gender assignment is

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A decision to undertake gender reassignment is made when an individual feels that his or her gender at birth does not match their gender identity. This is called ‘gender dysphoria’ and is a recognised medical condition.

Gender reassignment refers to individuals, whether staff, who either:

• Have undergone, intend to undergo or are currently undergoing gender reassignment (medical and surgical treatment to alter the body).
• Do not intend to undergo medical treatment but wish to live permanently in a different gender from their gender at birth.

‘Transition’ refers to the process and/or the period of time during which gender reassignment occurs (with or without medical intervention).

Not all people who undertake gender reassignment decide to undergo medical or surgical treatment to alter the body. However, some do and this process may take several years. Additionally, there is a process by which a person can obtain a Gender Recognition Certificate , which changes their legal gender.

People who have undertaken gender reassignment are sometimes referred to as Transgender or Trans (see glossary ).

Transgender and sexual orientation

It should be noted that sexual orientation and transgender are not inter-related. It is incorrect to assume that someone who undertakes gender reassignment is lesbian or gay or that his or her sexual orientation will change after gender reassignment. However, historically the campaigns advocating equality for both transgender and lesbian, gay and bisexual communities have often been associated with each other. As a result, the University's staff and student support networks have established diversity networks that include both Sexual Orientation and Transgender groups.

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• Open access
• Published: 09 February 2022

A review of the essential concepts in diagnosis, therapy, and gender assignment in disorders of sexual development

• Vivek Parameswara Sarma   ORCID: orcid.org/0000-0001-9484-7090 1  

Annals of Pediatric Surgery volume  18 , Article number:  13 ( 2022 ) Cite this article

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The aim of this article is to review the essential concepts, current terminologies and classification, management guidelines and the rationale of gender assignment in different types of differences/disorders of sexual development.

The basics of the present understanding of normal sexual differentiation and psychosexual development were reviewed. The current guidelines, consensus statements along with recommendations in management of DSD were critically analyzed to formulate the review. The classification of DSD that is presently in vogue is presented in detail, with reference to old nomenclature. The individual DSD has been tabulated based on various differential characteristics. Two schemes for analysis of DSD types, based on clinical presentation, karyotype and endocrine profile has been proposed here. The risk of gonadal malignancy in different types of DSD is analyzed. The rationale of gender assignment, therapeutic options, and ethical dimension of treatment in DSD is reviewed in detail.

The optimal management of different types of DSD in the present era requires the following considerations: (1) establishment of a precise diagnosis, employing the advances in genetic and endocrine evaluation. (2) A multidisciplinary team is required for the diagnosis, evaluation, gender assignment and follow-up of these children, and during their transition to adulthood. (3) Deeper understanding of the issues in psychosexual development in DSD is vital for therapy. (4) The patients and their families should be an integral part of the decision-making process. (5) Recommendations for gender assignment should be based upon the specific outcome data. (6) The relative rarity of DSD should prompt constitution of DSD registers, to record and share information, on national/international basis. (7) The formation of peer support groups is equally important. The recognition that each subject with DSD is unique and requires individualized therapy remains the most paramount.

The aim of this article is to review the essential concepts, current terminologies and classification, management guidelines, and the rationale of gender assignment in different types of differences/disorders of sexual development (DSD). The basics of the present understanding of normal sexual differentiation and psychosexual development were reviewed. The current guidelines, consensus statements along with recommendations in management of DSD were critically analyzed to formulate the review. The classification of DSD that is presently in vogue is presented in detail, with reference to old nomenclature. The individual DSD has been tabulated based on various differential characteristics. Two schemes for analysis of DSD types, based on clinical presentation, karyotype, and endocrine profile has been proposed here. The risk of gonadal malignancy in different types of DSD is analyzed. The rationale of gender assignment, therapeutic options, and ethical dimension of treatment in DSD is reviewed in detail.

The normal sexual differentiation

The normal pattern of human sexual development and differentiation that involves specific genetic activity and hormonal mediators [ 1 , 2 ] is explained by the classical Jost’s paradigm; the essence of which is narrated below [ 3 ].

The establishment of chromosomal sex (XX or XY) occurs at the time of fertilization. The variations in sex chromosome include XO, XXY or mosaicism as in XO/XY.

Chromosomal sex influences the determination of the gonadal sex, thus differentiating the bipotential gonadal ridge into testis or ovary. (Variations in gonadal sex include ovotestis and streak gonad.) The SRY gene (referred to as the testis-determining gene) on the short arm of Y chromosome directs the differentiation into testes, with formation of Leydig and Sertoli cells [ 4 , 5 ].

The sex phenotype (internal and external genitalia) is determined by the specific hormones secreted by the testes, which translates the gonadal sex into phenotype. Testosterone secretion by Leydig cells promotes Wolffian duct differentiation into vas deferens, epididymis, and seminal vesicles. The Wolffian ducts regress in the absence of androgenic stimulation. Testosterone is converted to dihydrotestosterone (DHT), by 5-alpha reductase, which results in masculinization of external genitalia, closure of urethral folds, and development of the prostate and scrotum. In the absence of influence of SRY gene, the development of bipotential gonad will evolve along the female pathway. Thus, the Mullerian ducts develop (even without any obvious hormonal input) into the uterus, fallopian tubes, and the proximal 2/3 of vagina. DHT is also important for the suppression of development of the sinovaginal bulb, which gives rise to the distal 1/3 of vagina. The fact that internal duct development reflects the ipsilateral gonad (due to the paracrine effect of sex hormones) is an important consideration in the understanding of specific types of DSD. The anti-Mullerian hormone (AMH) from Sertoli cells of Testis is vital for the regression of Mullerian structures. Therefore, Wolffian structures will develop on one side, along with Mullerian duct regression, only in the presence of a fully functional testis. But, Mullerian duct structures develop on one side even in the presence of an ipsilateral streak gonad. The genital tubercle develops as a clitoris, the urethral folds form the labia minora, and the labioscrotal swellings form the labia majora [ 1 , 2 , 4 , 5 , 6 ].

The concept of psychosexual development was added to the above sequence by Money et al. [ 7 ]. The brain undergoes sexual differentiation consistent with the other characteristics of sex. It is proposed that androgens organize the brain in early development and pubertal steroids activate the same, leading to masculine behavior. The sexual differentiation of genitalia occur in first 2 months of pregnancy, while sexual differentiation of brain occurs in the second half of pregnancy, and hence these processes can be influenced independently. Therefore, the extent of virilization of genitalia may not reflect the extent of masculinization of brain [ 8 , 9 ].

Psychosexual development is a complex and multifactorial process influenced by brain structure, genetics, prenatal and postnatal hormonal factors, environmental, familial, and psychosocial exposure [ 10 , 11 , 12 ]. Psychosexual development is conceptualized as three components: (1) gender identity is defined as the self-representation of a person as male, female or even, neither. (2) Gender role (sex-typical behavior) describes behavior, attitudes and traits that a society identifies as masculine or feminine. (3) Sexual orientation denotes the individual responsiveness to sexual stimuli, which includes behavior, fantasies, and attractions (hetero/bi/homo-sexual).

Psychosexual development is influenced by various factors such as Androgen exposure, sex chromosome genes, brain structure, family dynamics and social structure. With reference to altered psychosexual development, two conditions are important to be recognized and differentiated. (1) Gender dissatisfaction denotes unhappiness with the assigned sex, the etiology of which is poorly understood. (With respect to subjects with DSD, it has to be remembered that homo-sexual orientation or cross-sex interest is not considered an indication of incorrect gender assignment.) (2) Gender dysphoria (GD) is characterized by marked incongruence between the assigned gender and experienced/expressed gender, which is associated with clinically significant functional impairment. (It can occur in the presence or absence of DSD) [ 12 , 13 , 14 ].

The term “disorders/differences of sex development” (DSD) is defined as congenital anomalies in which development of chromosomal, gonadal, or phenotypic sex (including external genitalia/internal ductal structures) is atypical. In a wider perspective, DSD includes all conditions where chromosomal, gonadal, phenotypical, or psychological sex are incongruent. The three components of psychosexual development also may not always be concordant in DSD [ 15 , 16 ].

A greater understanding of underlying genetic and endocrine abnormalities has necessitated refinement in terminologies and classification of DSD. The newer classification of DSD aims to be more precise, specific, flexible, and inclusive of advances in genetic diagnosis, while being sensitive to patient concerns (Table  1 ). Terms such as intersex, hermaphrodite, pseudohermaphrodite, and sex reversal are avoided, to this end, in diagnostic terminologies. Presently, a specific molecular diagnosis is identified only in about 20% of all DSD. The majority of virilized 46 XX infants will have CAH, but only 50% of 46 XY DSD will have a definitive diagnosis [ 16 , 17 ].

For the purpose of understanding of the basic pathology and ease of comprehension, DSD can be classified as follows:

Sex chromosomal DSD: here, the sex chromosome itself is abnormal. This includes XO (Turner syndrome), XXY (Klinefelter’s syndrome), mosaic patterns of XO/XY (Mixed Gonadal Dysgenesis and Partial Gonadal Dysgenesis), XX/XY (Ovotesticular DSD), and even SRY-positive XX in 46 XX testicular DSD (de la Chapelle syndrome). These are essentially genetic anomalies characterized by a varying degrees of gonadal dysgenesis/abnormal gonadal differentiation secondary to the sex chromosome defect and in certain situations, associated systemic abnormalities and increased risk of malignancies. The phenotypic sex (internal ductal structures and external genitalia) reflects the gonadal sex.

Disorders of gonadal development: these are characterized by abnormal gonadal development, in the absence of any obvious sex chromosomal abnormality, i.e., Karyotype is either 46 XX or 46 XY. It includes 46 XY complete gonadal dysgenesis (Swyer syndrome), 46 XY partial gonadal dysgenesis, 46 XY ovotesticular DSD, 46 XX pure gonadal dysgenesis (Finnish syndrome) and 46 XX ovotesticular DSD. Here also, the phenotypic sex reflects the gonadal sex (streak or dysgenetic gonads/ovotestis).

Abnormalities in phenotypic sex secondary to hormonal defects: these are characterized by normal chromosomal sex (46 XX or 46 XY) and gonadal sex (testes/ovaries), but abnormal phenotype (internal ductal and/or external genital) due to defects in hormonal function. In 46 XY DSD, this can be due to defects in synthesis or action of androgens or less commonly, AMH. In 46 XX DSD, this is due to androgen excess, as in Congenital Adrenal Hyperplasia, or less commonly, gestational hyperandrogenism.

Primary endocrine abnormalities: These are characterized by a severe underlying endocrine abnormality, as in congenital hypogonadotropic hypogonadism or pan-hypopitutarism.

Malformation syndromes: these are characterized by the presence of genital abnormalities due to severe congenital anomalies including persistent cloaca, cloacal exstrophy, Mullerian agenesis/MRKH syndrome, or vaginal atresia.

The common pattern of correlation of gonadal sex with internal duct structure development is summarized in Table  2 . The cardinal characteristics of chromosomal, gonadal, and phenotypic sex in the individual types of DSD is summarized in Table  3 .

The genetic testing in DSD

For a sex chromosome DSD, no further genetic analysis is required. However, a DSD with 46 XX or 46 XY karyotype, the underlying etiology may be a monogenic disorder where the candidate gene has to be analyzed. The algorithm of genetic analysis of DSD is defined according to the results of sex chromosome complement (karyotyping/array CGH or SNP array) and presence of regions of Y chromosome (FISH/QFPCR). The next step is to study specific genes involved in gonadal development by techniques including Sanger sequencing combined with MLPA to assess specific genetic defects. Further analysis includes evaluation for causes of monogenic DSD or analysis of copy number variations (CNV) or both. Panels for candidate genes (CYP21A2 in CAH, AR in androgen insensitivity syndrome) provide rapid and reliable results. The evolving use of whole exome sequencing (WES) and whole genome sequencing (WGS) aim to identify previously unrecognized genetic etiology of DSD.

The further characterization of 46 XY DSD

The further characterization of individual types of 46 XY DSD based on endocrine and genetic evaluation is summarized in Table  4 . The selective use of the following investigations is required in 46 XY DSD to arrive at a specific diagnosis of the subtype:

Assay of serum testosterone, LH and FSH.

hCG stimulation test, to assess response in testosterone levels.

Assay of AMH, to detect the presence of functioning testicular tissue.

Testosterone: dihydrotestosterone (DHT) ratio.

Testosterone: androstenedione ratio.

ACTH test, for the diagnosis of testosterone biosynthesis defects.

Specific substrates like progesterone, 17-OHP, and 1-OH pregnenelone, for typing of Androgen biosynthesis defects.

Ultrasound scan/MRI and laparoscopy for the detection of Mullerian structures.

Gonadal biopsy for the diagnosis of ovotesticular DSD and gonadal dysgenesis.

Genetic testing including screening of androgen receptor gene for mutations, Molecular testing for 5-alpha reductase-2 gene mutations, androgen receptor expression, and androgen binding study in genital skin fibroblasts.

The further characterization of 46 XX DSD is summarized in Table  5 . The classification of the major types of DSD based on the different clinical manifestations is summarized in Table  6 .

Gonadal dysgenesis syndromes

There are five common patterns of gonadal dysgenesis syndromes, in addition to the dysgenetic ovotestis which is found in 46 XX or 46 XY ovotesticular DSD.

46 XY complete gonadal dysgenesis (Swyer syndrome)

46 XY partial gonadal dysgenesis (Noonan syndrome)

45 XO/46 XY mixed gonadal dysgenesis

46 XX pure gonadal dysgenesis (Finnish syndrome)

45 XO Turner’s syndrome.

Gender assignment in DSD

The classical “optimal gender policy” involved early sex assignment and surgical correction of genitalia and hormonal therapy, with the objective of an unambiguous gender of rearing, that will influence the future gender identity and gender role [ 7 , 11 ]. The genital phenotype (characteristics of genitalia) has historically been the guide for gender assignment, considering esthetic, sexual, and fertility considerations. This perspective, which assumes psychosexual neutrality at birth, has been challenged now, with the present focus shifting to the importance of prenatal and genetic influences on psychosexual development. In addition to the progress in the diagnostic techniques and therapeutic modalities, there has been greater understanding of the associated psychosocial issues and acceptance of patient advocacy [ 19 , 20 , 21 ].

Factors to be considered for gender assignment in DSD

The most common gender identity outcome, observed incidence of GD, and requirement of gender reassignment in the specific type of DSD from available data.

The most common pattern of psychosexual development in the particular DSD, consistent with established neurological characteristics.

The requirement of genital reconstructive surgery to conform to the assigned sex.

The estimated risk of gonadal malignancy and need for gonadectomy (Table  7 ).

The requirement, possible response, and timing of HRT.

The expected post-pubertal cosmetic and functional outcome of genitalia, after reconstruction where required.

The potential for fertility, even with the presumed aid of assisted reproduction techniques.

Though GD in patients with DSD influences, the choice of gender assignment (and reassignment), sexual orientation, and gender-atypical behavior do not affect the decision-making process in gender assignment of DSD [ 22 ].

Gender assignment in neonates should be done only after expert evaluation. The evaluation, therapy, and long-term follow-up should only be done at a centre with an experienced multidisciplinary team. The multidisciplinary team for management of DSD should include pediatric subspecialists in endocrinology, surgery/urology, genetics, gynecology, and psychiatry along with pediatrician/neonatologist, psychologist, specialist nurse, social worker, and medical ethicist. The core group will vary according to the type of DSD. All individuals with DSD should receive the appropriate gender assignment [ 22 , 23 , 24 , 25 ]. The patient and family should be able to have an open communication and participation in the decision-making process. The concerns of patients and their families should be respected and addressed in strict confidence.

The rationale of gender assignment in different clinical conditions of DSD

The usually recommended gender assignment guidelines in different clinical types of DSD is summarized in Table  8 .

46 XX DSD—congenital adrenal hyperplasia (CAH)

In CAH, female gender identity is the most common outcome despite markedly masculinized gender-related behavior. Patients diagnosed in the neonatal period, particularly with lower degrees of virilization, should be assigned and reared as female gender, with early feminizing surgery. GD is rare when female gender is assigned. Those with delayed diagnosis and severely masculinized genitalia need evaluation by a multidisciplinary team. Evidence supports the current recommendation to rear such infants, even with marked virilization, as females [ 18 , 19 , 22 , 23 , 26 ]. A psychological counseling for children with CAH and their families, focused on gender identity and GD, is recommended.

46 XY complete gonadal dysgenesis

It is recommended to rear these children as female, due to following considerations: (a) these patients have typical female psychosexual development. (b) Reconstructive surgery is not required for the external genitalia to be consistent with female gender. (c) Hormonal replacement therapy (HRT) is required at puberty as streak gonads should be removed in view of high risk of gonadal malignancy. (d) Pregnancy is feasible with implantation of fertilized donor eggs and hormonal therapy [ 19 , 22 , 23 ].

Complete androgen insensitivity syndrome (CAIS)

It is recommended that subjects with CAIS should be reared as female, due to the following considerations: (a) they have well documented female-typical core psychosexual characteristics, with no significant GD, in accordance with the proposed absence of androgenization of the brain. (b) Surgical reconstruction of the genitalia is not required for consistency with female gender, though vaginoplasty may be necessary. (c) HRT is required with estrogens after gonadectomy, but testosterone replacement is untenable due to androgen resistance [ 18 , 19 , 22 , 23 , 26 ].

5-alpha reductase deficiency

Male gender assignment is usually recommended due to the following considerations: (a) the genital tissue is responsive to androgens. (b) The potential for fertility. (c) The reported high incidence of subjects requesting female-to-male gender reassignment after puberty*. (d) HRT is not required at puberty for patients reared as male, if testes are not removed. (e) As the risk of gonadal malignancy is low, testes can potentially be retained. (f) They are very likely to have a male gender identity.*(As most neonates with this disorder have female external genitalia at birth, they are reared as females. Profound virilization occurs at puberty, with a gender role change from female to male during adolescence in up to 63% cases.) About 60% of these patients, assigned female in infancy and virilizing at puberty, and all who are assigned male, live as males. When the diagnosis is made in infancy, the combination of male gender identity in the majority and the potential for fertility, should be considered for gender assignment [ 19 , 22 , 23 ].

17-beta-HSD-3 deficiency

Classical features are that of an undervirilized male. Some of the affected patients with feminine genitalia at birth are reared as females. Virilization occurs at puberty, with gender role change from female to male in up to 64% cases. They are highly likely to identify as males. Male gender assignment is recommended in partial defects. But there is no strong data to support male gender assignment, as in 5-alpha reductase deficiency. The other considerations against male gender assignment are the lack of reported cases of fertility and the intermediate risk of germ cell tumors. Hence, regular testicular surveillance is required for those reared as male, with retained testes. Therefore, gender assignment should be made considering all the above factors [ 18 , 19 , 22 , 23 , 26 ].

Partial androgen insensitivity syndrome (PAIS)

Infants with PAIS are assigned to male/female gender, depending partially on the degree of undervirilization. The virilization at puberty is also variable and incomplete. The response to hCG stimulation test/testosterone therapy can serve as a guide to the possible sex of rearing. The phenotype is highly variable in PAIS, which is correspondingly reflected in the sex of rearing. The gender identity has considerable fluidity in PAIS, though gender identity is usually in line with the gender of rearing. Though fertility is possible if the testes are retained, it should be remembered that there is an intermediate risk of gonadal germ cell tumors. Hence, gender assignment in these patients is a complex, multifactorial process [ 18 , 19 , 22 , 23 , 26 ].

47 XXY Klinefelter’s syndrome and variants

They usually report a male gender identity, but with a putative high incidence of GD, which needs to be elaborated in larger series.

Mixed gonadal dysgenesis

The genital phenotype is highly variable. The prenatal androgen exposure, internal ductal anatomy, testicular function at and after puberty, post-puberty phallic development, and gonadal location have to be considered to decide the sex of rearing.

• Ovotesticular DSD

These entities were previously referred to as “true hermaphroditism”, signifying the presence of both testicular and ovarian tissue, though dysgenetic, in the same subject. The three patterns seen are as follows:

46 XX/XY–33% of ovotesticular DSD, with testis and ovary/ovotestis.

46 XX–33% of ovotesticular DSD, with dysgenetic ovotestis.

46 XY–7% of ovotesticular DSD, with dysgenetic ovotestis.

This is characterized by ambiguity of genitalia or severe hypospadias at birth, with secondary sexual changes at puberty, corresponding to the relative predominance of ovarian/testicular tissue. The management depends on the age at diagnosis and anatomical differentiation. Either sex assignment is appropriate when the diagnosis is made early, prior to definition of gender identity. The sex of rearing should be decided considering the potential for fertility, based on gonadal differentiation and genital development. It should be ensured that the genitalia are, or can be made, consistent with the chosen sex [ 19 , 22 , 23 , 24 , 25 ].

General guidelines for surgery and HRT in DSD

Feminizing genitoplasty.

Surgery for correction of virilization (clitoral recession, with conservation of neurovascular and erectile structures, and labioplasty) should be carried out in conjunction with the repair of the common urogenital sinus (vaginoplasty). The current recommendation is to perform early, single-stage feminizing surgery for female infants with CAH. It is opined that correction in first year of life relieves parental distress related to anatomic concerns, mitigates the risks of stigmatization and gender identity confusion, and improves attachment between the child and parents. The current recommendation is the early separation of vagina and urethra, the rationale of which includes the beneficial effects of estrogen for wound healing in early infancy, limiting the postoperative stricture formation and avoidance of possible complications from the abnormal connection between the urinary tract and peritoneum through the Fallopian tubes. Surgical reconstruction in infancy may require refinement at puberty. Vaginal dilatation should not be undertaken before puberty. An absent or inadequate vagina, requiring a complex reconstruction of at high risk of stricture formation, may be appropriately delayed. But, the need for complete correction of urogenital sinus, prior to the onset of menstruation, is an important consideration [ 19 , 22 , 23 , 24 , 25 , 26 ].

Male genital reconstruction

The standard timing and techniques of operative procedures for correction of ventral curvature and urethral reconstruction, along with selective use of pre-operative testosterone supplementation is advised when male sex of rearing is adopted. The complexity of phallic reconstruction later in life, compared to infancy, is an important consideration in this regard. There is no evidence that prophylactic removal of discordant structures (utriculus/pseudovagina, Mullerian remnants) that are asymptomatic, is required. But symptoms in the future may mandate surgical removal. In patients with symptomatic utriculus, removal can be attempted laparoscopically, though it may not be practically feasible to preserve the continuity of vas deferens [ 19 , 22 , 23 , 24 , 25 ].

Gonadectomy

The gonads at the greatest risk of malignancy are both dysgenetic and intra-abdominal. The streak gonad in a patient with MGD, raised male should be removed by laparoscopy in early childhood. Bilateral gonadectomy (for bilateral streak gonads) is done in early childhood for females with gonadal dysgenesis and Y chromosome material, which should be detected by techniques like FISH and QFPCR. In patients with defects of Androgen biosynthesis raised female, gonadectomy is done before puberty. The testes in patients with CAIS and those with PAIS, raised as females, should be removed to prevent malignancy in adulthood. Immunohistochemical markers (IHM) that can serve to identify gonads at risk of developing malignancy include OCT 3/ 4, PLAP, AFP, beta-Catenin and CD 117. Early removal at the time of diagnosis (along with estrogen replacement therapy) also takes care of the associated hernia, psychological problems associated with the retained testes and risk of malignancy. Parental choice allows deferment until adolescence, in view of the fact that earliest reported malignancy in CAIS is at 14 years of age. A scrotal testis in gonadal dysgenesis is at risk of malignancy. Current recommendations are surveillance with testicular biopsy at puberty to detect premalignant lesions, which if detected, is treated with local low-dose radiotherapy (with preliminary sperm banking). Also, patients with bilateral ovotestes are potentially fertile from the functioning ovarian tissue. Separation of ovarian and testicular tissue, though challenging, is preferably done early in life [ 19 , 22 , 23 , 24 , 25 , 26 ].

Hormonal therapy/sex steroid replacement

Hormonal induction at puberty in hypogonadism should attempt to replicate normal pubertal maturation to induce secondary sexual characteristics, pubertal growth spurt, optimal bone mineral accumulation together with psychosocial support for psychosexual maturation. Treatment is initiated at low doses and progressively increased. Testosterone supplementation in males (initiated at bone age of 12 years) and estrogen supplementation in females (initiated at bone age of 11 years) is given accordingly for established hypogonadism. In males, exogenous testosterone is generally given till about 21 years, while the same in females is variable. Also, in females a progestin is added after breakthrough bleeding occurs, or within 1–2 years of continuous estrogen. No evidence of benefit exists for addition of cyclical progesterone in females without uterus [ 22 , 23 , 24 , 25 ].

The advances in molecular diagnosis of DSD

The advent of advanced tools for genetic diagnosis has enabled specific diagnosis to be made by molecular studies. WES and WGS represent evolving translational research that help to identify novel genetic causes of DSD. The techniques for identification of novel genetic factors in DSD have evolved from the use of CGH and custom array sequencing to the use of next generation sequencing (NGS) which mainly includes polymerase-based and ligase-based techniques. The importance of molecular diagnosis in DSD lies in the guidance of management in relation to possible gender development, assessment of adrenal and gonadal function, evaluation of the risk of gonadal malignancy, assessment of the risk of familial recurrence, and prediction of possible morbidities and long-term outcome. Hence, the advances in molecular diagnosis of DSD constitute a rapidly evolving frontier in the understanding and therapy of DSD.

The ethical dimension in DSD

The predominant ethical considerations in management of DSD are twofold. Firstly, when the components of biological sex (the sexual profile of genome, gonads, phenotype, endocrine and neurological status) align strongly, prediction of gender identity and recommendations for sex assignment can be made accordingly. The more discordant the determinants of biological sex, more variation in subsequent components of psychosexual development. Secondly, irreversible anatomic and physiologic effects of surgical assignment of sex have to be avoided, especially when the components of biological sex do not strongly align. The objective in such situations should be to delay such treatment till the appropriate age [ 24 , 25 , 26 ].

The arguments favoring recognition of DSD as an alternate gender, with delayed sex assignment and deferred surgical therapy has gained ground over the past decades, highlighted by certain judicial interventions across the globe. In this regard, it has to be emphasized that a transgender state, without incongruity of biological sex, has to be clearly distinguished from a DSD. Though differences in psychosexual development can occur in DSD, the vast majority of clinically diagnosed DSD (CAH, MGD, 46 XY DSD) have the anatomic and physiological consequences of altered components of biological sex. The issues in these subjects are not only confined to the genitalia, but also include problems that can include life-threatening cortisol deficiency, features of hypogonadism and urogenital sinus, and even the risk of gonadal malignancy. The early identification and correction of each issue is vital, and the best available window for the same is limited and usually, early in life. It is some of the less frequently encountered types of DSD (ovotesticular DSD, 17-BHSD deficiency, PAIS) that invariably require a more complex decision-making process. The diagnostic and therapeutic approach in the majority of clinically encountered DSD requires a structured scientific approach, with due consideration of the intricacies of psychosexual development.

The optimal management of different types of DSD in the present era requires the following considerations: (1) establishment of a precise diagnosis, employing the advances in genetic testing and endocrine evaluation. (2) A multidisciplinary team is required for the diagnosis, evaluation, gender assignment and follow-up of these children, and during their transition to adulthood. (3) Deeper understanding of the issues in psychosexual development in DSD is vital for therapy. (4) The patients and their families should be an integral part of the decision-making process. (5) Recommendations for gender assignment should be based upon the specific outcome data. (6) The relative rarity of DSD should prompt constitution of DSD registers, to record and share information, on national/international basis. (7) The formation of peer support groups is equally important. The recognition that each subject with DSD is unique and requires individualized therapy remains the most paramount.

Availability of data and materials

Available on request.

Abbreviations

Disorders of sexual differentiation

• Congenital adrenal hyperplasia

Complete androgen insensitivity syndrome

Partial androgen insensitivity syndrome

Follicular stimulating hormone

Leutinizing hormone

Human chorionic gonadotropin

Fluorescence in situ hybridization

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gender reassignment

Definition of gender reassignment

Note: This term is sometimes considered to be offensive in its implication that a transgender or nonbinary person takes on a different gender, rather than making changes to align their outward appearance and presentation with their gender identity. Gender transition is the preferred term in the medical and LGBTQ+ communities.

Word History

1969, in the meaning defined at sense 2

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Medical Definition

Medical definition of gender reassignment.

Note: This term is sometimes considered to be offensive in its implication that a transgender or nonbinary person takes on a different gender, rather than makes changes to align their outward appearance and presentation with their gender identity. Gender transition is the preferred term in the medical and LGBTQ+ communities.

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• Sex and Gender Identity
• What's intersex?
• What are gender roles and stereotypes?

There’s a lot more to being male, female, or any gender than the sex assigned at birth. Your biological or assigned sex does not always tell your complete story.

What are the differences between sex, gender, and gender identity?

It’s common for people to confuse sex, gender, and gender identity.  But they’re actually all different things.

Sex is a label — male or female — that you’re assigned by a doctor at birth based on the genitals you’re born with and the chromosomes you have. It goes on your birth certificate.

Gender is much more complex: It’s a social and legal status, and set of expectations from society, about behaviors, characteristics, and thoughts. Each culture has standards about the way that people should behave based on their gender. This is also generally male or female. But instead of being about body parts, it’s more about how you’re expected to act, because of your sex.

Gender identity is how you feel inside and how you express your gender through clothing, behavior, and personal appearance. It’s a feeling that begins very early in life.

What’s assigned sex (aka “biological sex”)?

Assigned sex is a label that you’re given at birth based on medical factors, including your hormones, chromosomes, and genitals. Most people are assigned male or female, and this is what’s put on their birth certificates.

When someone’s sexual and reproductive anatomy doesn’t seem to fit the typical definitions of female or male, they may be described as intersex .

Some people call the sex we’re assigned at birth “biological sex.” But this term doesn’t fully capture the complex biological, anatomical, and chromosomal variations that can occur. Having only two options (biological male or biological female) might not describe what’s going on inside a person’s body.

Instead of saying “biological sex,” some people use the phrase “assigned male at birth” or “assigned female at birth.” This acknowledges that someone (often a doctor) is making a decision for someone else. The assignment of a biological sex may or may not align with what’s going on with a person’s body, how they feel, or how they identify.  

The factors that determine our assigned sex begin as early as fertilization .

Each sperm has either an X or a Y chromosome in it. All eggs have an X chromosome.

When sperm fertilizes an egg, its X or Y chromosome combines with the X chromosome of the egg.

A person with XX chromosomes usually has female sex and reproductive organs, and is therefore usually assigned biologically female.

A person with XY chromosomes usually has male sex and reproductive organs, and is therefore usually assigned biologically male.

Other arrangements of chromosomes, hormones, and body parts can happen, which results in someone being intersex .

What’s gender?

Gender is much bigger and more complicated than assigned sex. Gender includes gender roles , which are expectations society and people have about behaviors, thoughts, and characteristics that go along with a person’s assigned sex.

For example, ideas about how men and women are expected to behave, dress, and communicate all contribute to gender. Gender is also a social and legal status as girls and boys, men, and women.

It’s easy to confuse sex and gender. Just remember that biological or assigned sex is about biology, anatomy, and chromosomes. Gender is society’s set of expectations, standards, and characteristics about how men and women are supposed to act.

What’s gender identity?

Your gender identity is how you feel inside and how you express those feelings.  Clothing, appearance, and behaviors can all be ways to express your gender identity.

Most people feel that they’re either male or female.  Some people feel like a masculine female, or a feminine male. Some people feel neither male nor female. These people may choose labels such as “genderqueer,” “gender variant,” or “gender fluid.”  Your feelings about your gender identity begin as early as age 2 or 3.

Some people’s assigned sex and gender identity are pretty much the same, or in line with each other. These people are called cisgender. Other people feel that their assigned sex is of the other gender from their gender identity (i.e., assigned sex is female, but gender identity is male). These people are called transgender or trans. Not all transgender people share the same exact identity.

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Gender in the Cradle: Evaluating Gender Assignment as a Social Norm

Module 1: Foundations of A Psychology of Gender

3rd edition as of August 2023

Module Overview                                              

In our first module, gender is differentiated from concepts of sex and sexual orientation, and health is differentiated from wellness, laying the foundation for the subsequent modules. The dimensions of gender and the importance of gender congruence are outlined, and terms related to gender are defined. Finally, movements specific to women (i.e., feminism) and men are discussed, as well as some of the professional societies and journals committed to studying gender issues.

Module Outline

1.1. Defining Terms

1.2. movements linked to gender, 1.3. connecting with other psychologists of gender.

Module Learning Outcomes

• Contrast gender with sex and sexual orientation and describe the key components of gender.
• Describe movements geared to women and men.
• Identify professional societies and journals committed to the study of gender issues.

Section Learning Objectives

• Define psychology.
• Contrast health and wellness.
• Differentiate sex and gender.
• List the dimensions of gender.
• Clarify the importance of gender congruence.
• Differentiate gender and sexual orientation.
• Define key terms in relation to the language of gender.

1.1.1. What is Psychology?

Welcome to your course on the psychology of gender which this book supports. Of course, you may be expecting a definition of gender in this module, and one will certainly be provided. However, since some students taking this class are not psychology majors or minors, and most of you had your introductory class some time ago, we want to ensure you have a solid foundation to build on. To begin, we need to understand what psychology is.

Psychology is the scientific study of behavior and mental processes. While this may be surprising to some, psychology utilizes the same scientific process and methods practiced by other scientific disciplines, such as biology and chemistry. We will discuss this in more detail in Module 2 so please just keep this in the back of your mind for now. Second, psychology is the study of behavior and mental processes. Psychology seeks not only to understand the reasons people engage in the behavior they do, but also how. What is the mechanism by which our movements are controlled when we extend a hand to reach for a cup of tea and lift it? What affects the words we choose while madly in love? How do we distinguish between benign or threatening events when a loud sound is heard? What makes an individual view another group as less favorable than their own? Such prejudicial or discriminatory behavior could be directed at a person due to their gender or sexual orientation. These are just a few of the questions that we ask as psychologists and our focus in this book is on the psychology of gender.

1.1.2. What is Health and Wellness?

As we discuss the psychology of gender, we will cover numerous topics related to the health and wellness of individuals. The Substance Abuse and Mental Health Services Administration (SAMHSA) defines wellness as “being in good physical and mental health.” They add, “Remember that wellness is not the absence of illness or stress. You can still strive for wellness even if you are experiencing these challenges in your life.” Most people see wellness as just focused on the physical or mental. These are only part of the picture.

SAMHSA proposes eight dimensions of wellness as follows (this information is directly from their website):

• Physical – Recognizing the need for physical activity, healthy foods, and sleep
• Emotional – Coping effectively with life and creating satisfying relationships
• Environmental —Good health by occupying pleasant, stimulating environments that support well-being
• Financial —Satisfaction with current and future financial situations
• Intellectual —Recognizing creative abilities and finding ways to expand knowledge and skills
• Occupational —Personal satisfaction and enrichment from one’s work
• Social — Developing a sense of connection, belonging, and a well-developed support system
• Spiritual — Expanding a sense of purpose and meaning in life

As we tackle the content of the remaining modules, consider the various dimensions of wellness that are affected by topics related to gender, such as stereotypes, identity formation, aggression, relationships, health, sexuality, development, mental disorders, and physiology. As you will see, all eight are involved at different times.

Source: https://www.samhsa.gov/wellness-initiative/eight-dimensions-wellness

1.1.3. What is a Psychology of Gender?

Before we can define gender, we must understand the meaning of sex. Though sex and gender are sometimes used interchangeably in everyday language, they have distinct meanings in the scientific contexts of collecting data and conducting research. Sex refers to the biological, anatomical aspects of an individual. This includes the individual’s hormones, chromosomes, body parts, such as the sexual organs, and how they all interact. When we use the term sex, we are describing the assignment of an individual as male or female at birth, based on these aspects.

In contrast, gender is socially constructed and enforced, presumed after a sex is assigned, and leads to labels such as masculinity or femininity and their related behaviors. Gender constructions change over time and differ across cultures. For instance, in the past, the accepted norm was to give pink to boys and blue to girls (Cohen, 2013). Because there is such variety and overlap in evolving gender contructions, people might declare themselves to be a man or woman, as having no gender, or falling on a continuum. How so? According to genderspectrum.org, gender results from the complex interrelationship of three dimensions – body, identity, and social.

First, body , concerns our physical body, how we experience it, how society genders bodies, and the way in which others interact with us based on our body. The website states, “Bodies themselves are also gendered in the context of cultural expectations. Masculinity and femininity are equated with certain physical attributes, labeling us as more or less a man/woman based on the degree to which those attributes are present. This gendering of our bodies affects how we feel about ourselves and how others perceive and interact with us.”

Gender identity is our internal perception and expression of who we are. This includes naming our gender, though this gender category may not match the sex we are assigned at birth. Gender identities can take on several forms from the traditional binary man-woman, to non-binary such as genderqueer or genderfluid, and ungendered or agender (i.e. genderless). Though an understanding of our gender occurs by age four, naming it is complex and can evolve over time. As genderspectrum.org says, “Because we are provided with limited language for gender, it may take a person quite some time to discover, or create, the language that best communicates their internal experience. Likewise, as language evolves, a person’s name for their gender may also evolve. This does not mean their gender has changed, but rather that the words for it are shifting.”

Finally, we have a social gender or the manner in which we present our gender in the world, but also how other people, society, and culture affect our concept of gender. In terms of presentation, we communicate our gender through our clothes, hairstyles, and behavior called gender expression . In terms of the way culture affects gender concepts, children are socialized into gender roles though a process beginning before they are born and through toys, colors, and clothes. This socialization can come from parents, grandparents, siblings, teachers, media, religious figures, friends, and the community. Generally, the binary male-female view of gender is communicated, for which there are specific gender expectations and roles. According to genderspectrum.org, “Kids who don’t express themselves along binary gender lines are often rendered invisible or steered into a more binary gender presentation. Pressures to conform at home, mistreatment by peers in school, and condemnation by the broader society are just some of the struggles facing a child whose expression does not fall in line with the binary gender system.” The good news is that acceptance for more complex expressions of gender is increasing (Parker et al., 2022).

1.1.4. Gender Congruence

When we feel a sense of harmony in our gender, we are said to have gender congruence . In gender congruence, the gender of the individual is named such that it matches the internal sense of who they are. This congruence is expressed through their clothing and activities, and being seen consistently by others as they see themselves. Congruence does not happen overnight, but occurs throughout life as we explore, grow, and gain insight into ourselves. It is a simple process for some, and complex for others, though all of us have a fundamental need to obtain gender congruence.

When a person moves from the traditional binary view of gender to transgender, agender, or non-binary, they are said to “ transition ” and find congruence in their gender.  Genderspectrum.org adds, “What people see as a “transition” is actually an alignment in one or more dimensions of the individual’s gender as they seek congruence across those dimensions. A transition is taking place, but it is often other people (parents and other family members, support professionals, employers, etc.) who are transitioning in how they see the individual’s gender, and not the person themselves. For the individual, these changes are often less of a transition and more of an evolution.” Harmony is sought in various ways to include:

• Social – Changing one’s clothes, hairstyle, and name and/or pronouns
• Hormonal – Using hormone blockers or hormone therapy to bring about physical, mental, and/or emotional alignment
• Surgical – When gender-related physical traits are added, removed, or modified
• Legal – Changing one’s birth certificate or driver’s license

The website states that the transition experience is often a significant event in the person’s life. “A public declaration of some kind where an individual communicates to others that aspects of themselves are different than others have assumed, and that they are now living consistently with who they know themselves to be, can be an empowering and liberating experience (and moving to those who get to share that moment with them).”

1.1.5. Gender and Sexual Orientation

Gender must also be distinguished from sexual orientation, which refers to who we are physically, emotionally, and/or romantically attracted to. Hence, sexual orientation is interpersonal while gender is personal. We would be mistaken to assume that a boy who plays princess is gay, or that a girl who has short hair is lesbian.  The root of such errors comes from confusing gender with sexual orientation. The way someone dresses or acts concerns gender expression, and it is not possible to determine their sexual orientation based on these behaviors.

1.1.6. The Language of Gender

Before we move on in this module and into the rest of the book, it is critical to have a working knowledge of terms related to the study of gender. Consider the following:

• Agender – When someone does not identify with a gender
• Cisgender – When a person’s gender identity matches their assigned sex at birth
• FtM – When a person is assigned a female sex at birth but whose gender identity is boy/man
• Gender dysphoria – When a person is unhappy or dissatisfied with their gender and can occur in relation to any dimension of gender. The person may experience mild discomfort to unbearable distress
• Genderfluid – When a person’s gender changes over time; they view gender as dynamic and changing
• Gender role – All the activities, functions, and behaviors that are expected of males and females by society
• Genderqueer – Anyone who does not identify with conventional gender identities, roles, expectations, or expression.
• MtF – When a person is assigned a male sex at birth but whose gender identity is girl/woman
• Non – binary – When a gender identity is not exclusively masculine or feminine
• Transgender – When a person’s gender identity differs from their assigned sex

To learn more about gender, we encourage you to explore the https://www.genderspectrum.org/ website.

The World Health Organization also identifies two more key concepts in relation to gender. Gender equality is “the absence of discrimination on the basis of a person’s sex in opportunities, the allocation of resources and benefits, or access to services” while gender equity refers to “the fairness and justice in the distribution of benefits and responsibilities between women and men.” We will encounter these two concepts throughout the book.

Source: http://www.euro.who.int/en/health-topics/health-determinants/gender/gender-definitions

Two other terms are worth mentioning. According to https://www.genderspectrum.org , gender expansive is, “An umbrella term used for individuals who broaden their own culture’s commonly held definitions of gender, including expectations for its expression, identities, roles, and/or other perceived gender norms.” Additionally, gender literacy is, “ the ability to participate knowledgeably in discussions of gender and gender-related topics.” It involves having a stance of openness to the complexity of gender and the idea that each person determines for themselves their own identity.

Additional Resources:

• CBS News Report on the Gender Identity Terms You Need to Know – https://www.cbsnews.com/news/transgender-gender-identity-terms-glossary/
• Psychology Today article on the differences between sex and gender – https://www.psychologytoday.com/us/blog/the-how-and-why-sex-differences/201110/sex-difference-vs-gender-difference-oh-im-so-confused
• Psychology Today on sex differences and whether they are real – https://www.psychologytoday.com/us/articles/201711/the-truth-about-sex-differences
• Define feminism.
• Outline the three waves of feminism.
• List and describe the types of feminism.
• Describe and exemplify types of movements related to men.

1.2.1. Feminism

Feminism is a belief which advocates that men and women should have equal rights and opportunities socially, economically, and politically. According to Ropers-Huilman (2002) feminist theory is grounded in three main principles. One of which is that women have something of value to contribute to every aspect of the world. Second, due to oppression, women have not been able to achieve their full potential or gain full participation in society. Third, feminist research should go beyond just critiquing to include social transformation.

Feminism has developed over three waves. The first, occurring during the late 19th to early 20th centuries, was linked to the women’s suffragist movement and obtaining the right for women to vote, as well as abolitionism. Key figures included Elizabeth Cady Stanton who convened the Seneca Falls Convention in July 1848, saying “all men and women are created equal.” There, it was proposed in the “Declaration of Sentiments” that women be given the right to vote. During this time, Susan B. Anthony, who was arrested for attempting to vote, started the National Woman Suffrage Association (NWSA) with Stanton, Lucretia Mott, and Matilda Joslyn Gage. Because of the work of feminists in the first wave, the 19th Amendment to the Constitution, which guaranteed the right to vote for women, was passed and ratified.

The second wave of feminism spanned the 1960s to the 1990s and unfolded during the antiwar and civil rights movements, including women of color as well as women from developing nations. Books by feminists such as The Feminine Mystique, by Betty Friedan, The Second Sex, by Simone de Beauvoir, and Sexual Politics, by Kate Millet fueled a revolution of sexuality and freedom from a life confined within the home, centered around a husband and children. Friedan also started the National Organization for Women (NOW) to fight for equality and raise awareness, with the concept of choice for women being the priority of these efforts. On January 22, 1973 the Roe v. Wade decision made abortion legal with the Supreme Court, asserting that a woman’s right to an abortion was implicit in the right to privacy, protected in the 14th amendment. Also during this wave, Title VII of the Civil Rights Act of 1964 was passed and the National Organization for the Women was started.

In the 1990s and beyond, feminists of the third wave, having inherited professional and economic power gained by those in the second, have sought to redefine divisions of labor in their households, workplaces, and further economic, racial, and social justice. During this wave, focus shifted from fighting for equality of individuals to celebrating differences, emphasizing sexual exploration and empowerment within diversity of class, race, ethnicity, and gender.

Feminism takes several forms. First, liberal feminism was rooted in the first wave and seeks to level the playing field for women to gain the same opportunities for pursuits as men and dispel the myth that women are not as capable or intelligent. Liberal feminism states that the cause of the oppression of women is rooted in the legal system. Radical feminism, however, states that these problems are rooted in patriarchal gender relations. Radical feminists maintain that the liberal counterpart is not sufficient to address centuries of patriarchal oppression and domination of women on the individual, institutional, and systemic levels. This form of feminism seeks to place higher societal value on feminine qualities, which they believe would lessen gender oppression.

M ulticultural feminism suggests that women in a country such as the United States have different interconnected identities, and eco feminism links the destruction of the planet with the exploitation of women worldwide by the patriarchy, investigating racism, socioeconomic privilege, and speciesism. Finally, cultural feminism states that fundamental differences exist between men and women and those special qualities of women should be celebrated.

1.2.2. Men’s Movements

There are several forms of men’s movements (Fox, 2004). Pro-feminist men’s movements emerged in the 1970’s alongside second wave feminism, during which men questioned the traditional views of masculinity and campaigned in partnership with women for rights and opportunities. Pro-feminist men’s movements “exist in many countries and many feminist men’s groups focus on involving men in anti-violence work” (Jordan, 2019). A prominent pro-feminist men’s organization in the United States is the National Organization for Men Against Sexism (NOMAS). Their Statement of Principles says they advovate “a perspective that is pro-feminist, gay affirmative, anti-racist, dedicated to enhancing men’s lives, and committed to justice on a broad range of social issues including class, age, religion, and physical abilities. Men can live as happier and more fulfilled human beings by challenging the old-fashioned rules of masculinity that embody the assumption of male superiority. Traditional masculinity includes many positive characteristics in which we take pride and find strength, but it also contains qualities that have limited and harmed us.” They encourage men to spend more time with their children, have intimacy and trust with other men, display emotional expressiveness, build their identity around more than just a career, rethink a man’s obsession with winning, unlearn aggressiveness, and to not fear femininity. For more on the group, please visit: http://nomas.org/ .

Other forms of men’s movements include the mythopoetic men’s movement, a New Age movement which emerged in the 1980s. This movement is based on spirituality and psychoanalysis derived from Carl Jung, as well as a book by Robert Bly called Iron John: A Book About Men, in which Bly states that society and the feminist movement depleted male energy. Mythopoets believe society “trapped men into straightjackets of rationality, thus blunting the powerful emotional communion and collective spiritual transcendence that they believe men in tribal societies typically enjoyed” (Messner, 1997).  Proponents of this movement use self-help approaches to attain “deep masculinity.” Mythopoetic men’s groups include the ManKind Project and Promise Keepers. The ManKind Project has a flagship, three-phase training program called the New Warrior Training Adventure which they describe as a modern male initiation and self-examination, as well as a “hero’s journey” of classical literature and myth (ManKind Project Chicago, 2022). For more on the ManKind Project, please visit: https://mankindproject.org/ .

The Promise Keepers, a Christian men’s group, states that masculinity is in crisis and the soul of men is at stake due to society rejecting biblical definitions of manhood. They write, “Men are seeking authentic relationships and real connections. They long to be men of influence within the workplace, among their friends, and within their own households. But these connections, these relationships, these identities are difficult to establish and maintain successfully.” They cite 7 promises – honor, brotherhood, virtue, commitment, changemaking, unity, and obedience. For more on the Promise Keepers, please visit: https://promisekeepers.org/ .

Some men’s movements are geared toward the rights of men, focusing on legislative, political, and cultural change. One such group is the National Coalition for Men (NCFM) which states, “Perhaps you are a victim of paternity fraud, lost your children in family court, were falsely accused of a gender targeted crime, were denied health services or protection by a domestic violence shelter… the list of possible discrimination’s against males is seemingly endless. Here, you may quickly realize that you are not alone…you are among friends.” To learn more about NCFM, please visit: https://ncfm.org/ . Additionally, the website, www.avoiceformen.com states its mission is, “… to provide education and encouragement to men and boys; to lift them above the din of misandry, to reject the unhealthy demands of gynocentrism in all its forms, and to promote their mental, physical and financial well-being without compromise or apology.”

• Clarify what it means to communicate findings.
• Identify professional societies related to the study of gender and related issues.
• Identify publications related to the study of gender and related issues.

One of the functions of science is to communicate findings. Testing hypotheses, developing sound methodology, accurately analyzing data, and drawing cogent conclusions are important, and equally important is disseminating those findings. This is accomplished through joining professional societies and submitting articles to peer reviewed journals. Below are some of the societies and journals important to the study of gender and related issues.

1.3.1. Professional Societies

• Website – https://www.apa.org/about/division/div35
• Mission Statement – “Division 35: Society for the Psychology of Women provides an organizational base for all feminists, women and men of all national origins, who are interested in teaching, research, or practice in the psychology of women. The division recognizes a diversity of women’s experiences which result from a variety of factors, including ethnicity, culture, language, socioeconomic status, age and sexual orientation. The division promotes feminist research, theories, education, and practice toward understanding and improving the lives of girls and women in all their diversities; encourages scholarship on the social construction of gender relations across multicultural contexts; applies its scholarship to transforming the knowledge base of psychology; advocates action toward public policies that advance equality and social justice; and seeks to empower women in community, national and global leadership.”
• Publication – Psychology of Women Quarterly (journal) and Feminist Psychologist (quarterly newsletter)
• Other Information – The division has 5 special sections for the psychology of black women; concerns of Hispanics women/Latinas; lesbian, bisexual, and transgender concerns; psychology of Asian Pacific American women; and Alaska Native/American Indian/Indigenous women.
• Website – https://www.apadivisions.org/division-44
• Mission Statement – “Div. 44 (SPSOGD) is committed to advancing social justice in all its activities. The Society celebrates the diversity of lesbian, gay, bisexual, transgender and gender nonconforming and queer people and recognizes the importance of multiple, intersectional dimensions of diversity including but not limited to: race, ethnicity, ability, age, citizenship, health status, language, nationality, religion and social class.”
• Publication – Psychology of Sexual Orientation and Gender Diversity (journal) and Division 44 Newsletter
• Website – https://www.apa.org/about/division/div51
• Mission Statement – “Division 51: Society for the Psychological Study of Men and Masculinities (SPSMM) advances knowledge in the new psychology of men through research, education, training, public policy and improved clinical services for men. SPSMM provides a forum for members to discuss the critical issues facing men of all races, classes, ethnicities, sexual orientations and nationalities.”
• Publication – Psychology of Men and Masculinities (journal)
• Other Information – The division has five special interest groups focused on applied and professional practice, racial ethnic minorities, sexual and gender minorities, students, and violence and trauma.

1.3.2. Publications

• Website: https://www.apadivisions.org/division-35/publications/journal/index
• Published by: APA Division 35
• Description: “The Psychology of Women Quarterly ( PWQ ) is a feminist, scientific, peer-reviewed journal that publishes empirical research, critical reviews and theoretical articles that advance a field of inquiry, teaching briefs and invited book reviews related to the psychology of women and gender.” Topics include violence against women, sexism, lifespan development and change, therapeutic interventions, sexuality, and social activism.”
• Website: https://www.apadivisions.org/division-44/publications/journal
• Published by: Division 44 of APA
• Description: “A quarterly scholarly journal dedicated to the dissemination of information in the field of sexual orientation and gender diversity, PSOGD is envisioned as the primary outlet for research particularly as it impacts practice, education, public policy, and social action.”
• Website: https://www.apa.org/pubs/journals/men
• Published by: Division 51 of APA
• Description: “ Psychology of Men & Masculinities is devoted to the dissemination of research, theory, and clinical scholarship that advances the psychology of men and masculinity. This discipline is defined broadly as the study of how boys’ and men’s psychology is influenced and shaped by both gender and sex, and encompasses the study of the social construction of gender, sex differences and similarities, and biological processes.”
• Website: https://tandfonline.com/toc/cjgs20/current
• Published by: Taylor and Francis
• Description: “The Journal of Gender Studies is an interdisciplinary journal which publishes articles relating to gender and sex from a feminist perspective covering a wide range of subject areas including the Social, Natural and Health Sciences, the Arts, Humanities, Literature and Popular Culture. We seek articles from around the world that examine gender and the social construction of relationships among genders.”
• Website: http://ijgws.com/
• Description: “ International Journal of Gender and Women’s Studies is an interdisciplinary international journal which publishes articles relating to gender and sex from a feminist perspective covering a wide range of subject areas including the social and natural sciences, the arts, the humanities and popular culture. The journal seeks articles from around the world that examine gender and the social construction of relationships among genders.”
• Website: https://addletonacademicpublishers.com/journal-of-research-in-gender-studies
• Published by: Addleton Academic Publishers
• Description: “The Journal of Research in Gender Studies publishes mainly original empirical research and review articles focusing on hot emerging topics, e.g. same-sex parenting, civil partnership, LGBTQ+ rights, mobile dating applications, digital feminist activism, sexting behavior, robot sex, commercial sex online, etc.”
• Website: https://www.tandfonline.com/action/journalInformation?show=aimsScope&journalCode=wglm20
• Description: “J ournal of Gay & Lesbian Mental Health seeks out and publishes the most current clinical and research scholarship on LGBT mental health with a focus on clinical issues.”

Module Recap

If you asked a friend or family member what the difference between sex and gender was, they might state that they are synonyms for one another and can be used interchangeably. After reading this module, you know that this is incorrect, and that sex is a biological concept while gender is socially constructed. Gender is further complicated by the fact that it consists of the three dimensions of body, identity, and social. As humans, we have a psychological need to have gender congruence or a sense of harmony in our gender, though at times to get there we have to transition. We also contrasted gender and sexual orientation, and outlined some of the language of gender you will encounter throughout this book. Movements linked to gender include feminism and men’s movements. Finally, we featured three divisions of the American Psychological Association which study gender and several journals that publish research on it, all in an effort to communicate findings and connect with other psychologists studying gender.

In our next module, we will discuss how psychology as a discipline is scientific and demonstrate the ways in which the psychology of gender is studied. This discussion will conclude Part I: Setting the Stage of this book.

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GENDER ASSIGNMENT

the term used for the classification of an infant at birth as either male or female. Children born with ambiguous genitalia are usually assigned a gender by parents or physicians. See gender reassignment .

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Assigned Gender , also called Assigned Gender at Birth (AGAB) , Gender Assigned at Birth (GAAB) , Designated Gender at Birth (DGAB) or Assigned Sex at Birth (ASAB) , is a gender or sex assigned to infants, usually based on genitalia alone and reported on the infant's birth certificate. [1] [2] [3] [4]

There are various definitions and versions of AGAB and its overall concept. These include:

• AGAB (Assigned Gender at Birth): Referring to one's assigned sex. An example of this is AMAB (Assigned Male at Birth). Despite the terminological difference between sex and gender, sex assignment is commonly referred to as an assigned gender; [5]
• AGAB (Assigned Gender at Birth): A less common use of the term - referring to the intangible decision made by the parent(s)/guardian(s) to treat the infant as a certain gender identity, which usually follows on throughout childhood and teenagehood. An example of this is AMAB (Assigned Male / Man /Boy at Birth); [6]
• AGAA (Assigned Gender at Age): Referring to the intangible decision made by the parent(s)/guardian(s) to treat the infant, child, or teenager as a certain gender identity. An example of this is AMAC (Assigned Boy At Childhood); citation needed
• CAGAB (Coercively Assigned Gender at Birth) / FAGAB (Forcefully Assigned Gender at Birth): Referring to one's coercive/forced sex assignment, usually in cases where an infant's body is medically altered to reflect either male or female genitalia. An example of this is CAMAB (Coercively Assigned Male at Birth); [7] [8]
• IAGAB ( Intersex /Incorrectly Assigned Gender at Birth): Referring to an intersex infant's sex assignment, usually male or female especially in countries where intersex is not legally recognized or is unable to be assigned in one's birth certificate. May also refer to an incorrect assignment, especially in cases where the infant's intersex traits are not externally visible; [9]
• ASAB (Assigned Sex at Birth): Referring to one's assigned sex, based on the infant's birth certificate. This is usually used over AGAB as to affirm the differences between sex and gender identity. An example of this is AMAB (Assigned Male at Birth). [2]
• 1 Terminology and Usage
• 3 Recognition of Intersex or Other
• 4 Assigned Sexes
• 5 Resources

Terminology and Usage

Due to the definition of gender identity being a social/psychological aspect rather than a physical one (body sex), AGAB can be a potentially confusing concept. Historically, AGAB was designed with gender's secondary definition in mind - where gender is a synonym of body sex. [10] Whilst the definition of gender has changed over the years, AGAB as a concept has remained primarily the same. Despite the linguistic conflict, it is officially understood to refer to one's body sex, as that is how one's AGAB is determined. [1] Many English birth certificates use the term body sex for one's gender assignment, however whilst ASAB may be more linguistically correct in terms of definition, AGAB is still far more commonly used.

Individuals whose gender identity matches their birth assignment are referred to as cisgender , while individuals who have a gender identity that differs from their assigned gender may identify as transgender . [11] The difference or relationship between one's gender identity and assigned birth is referred to as one's gender modality .

Gender assignment as a clinical definition was historically referred to as natal male/female. This terminology was changed with the publishing of the the DSM-5-TR (Diagnostic and Statistical Manual of Mental Disorders 5 Text Revision) in 2022, instead opting to use "individual assigned sex/gender at birth". [12] However, AGAB has existed earlier than 2022 and widely used amongst queer communities before its official presence in the DSM. [11]

Originally it was referred to as Sex/Gender Assigned At Birth (SAAB), and its usage traces back to the early 2000s. [13] Its variations also appeared in a similar timeframe, including CAGAB. [14] [15] [16]

The first appearances of AGAB are unknown, but it's been allegedly reported as appropriated from the intersex community. [17] Intersex individuals would use AGAB specifically in cases where an intersex individual is assigned a sex/gender other than intersex. This is reasoned with the notion that the definition of assigned refers to the medical reassignment often prescribed to intersex infants, which differs to the literary recording of one's sex. In a letter to the editor of Times-Call, Susana wrote:

Such people are often, unfortunately, “assigned” a sex (sometimes incorrectly) by doctors who perform a sex assignment surgery on the unconsenting child, to make their genitalia more closely resemble standard female or male genitals. This does not happen to non-intersex people, and it is not accurate to describe women or men as having been “assigned” a sex, when in actuality, their biological sex was simply observed and written down at birth. [17]

However this exclusivity has mostly been lost throughout the years, most likely due to the vague definition of assignment , that being "to designate or set (something) aside for a specific purpose"; as per linguistic manner, a recording of the birth sex (regardless of medical intervention) still meets the definition of an assignment. [18]

Recognition of Intersex or Other

Many countries do not legally recognize intersex or indeterminate as a valid record, and do not allow their documentation on birth certificates, passports, or other forms of identification. However some countries do allow the record and identification of intersex, including the correction of certificates for those that later discovered they were intersex. The amount of regions that have begun to recognize intersex classification have been steadily growing over the past few decades.

In 2016, Sara Kelly Keenan was the first US citizen to receive a birth certificate marking one's assigned sex as intersex. [19] [20] Most Australians have been able to correct their birth certificates since 2009, or in some cases remove the sex field from their birth certificate entirely. [21] In 2013, German began to allow an indeterminate sex option on birth certificates. [22] In 2018, Alex Juergen became the first Austrian to receive an intersex marked birth certificate. [23] In 2016, Canadian transgender parent Kori Doty opted to not record their newborn's sex at all. [24]

Some activists have taken to the idea of removing the sex on birth certificates altogether. [25]

Dr Fiona Kelly, a law school professor, and Hannah Robert, a lecturer in law, wrote of the benefits of removing the assigned sex from one's birth certificate:

Having a gender identity that does not match the sex designation on a birth certificate can create confusion and potentially expose people to discrimination when an identity document is requested, such as when they register at a school or university or apply for a passport. ... Removing sex from birth certificates would also eliminate the need for the parents of an intersex child to choose a sex for their baby to be publicly recorded. This can be a highly difficult and emotional decision for parents and, in some instances, will not reflect the child’s understanding of their gender later on. Leaving the birth certificate blank allows the child to make that decision once they have the knowledge and maturity to confirm their gender identity. " [25]

Assigned Sexes

• ↑ 1.0 1.1 "Birth Assignment". translanguageprimer, https://translanguageprimer.com/birth-assignment/ . Accessed on 19 Jun, 2023.
• ↑ 2.0 2.1 "Glossary". Digital Transgender Archive, https://www.digitaltransgenderarchive.net/learn/glossary . Accessed on 21 Jun, 2023.
• ↑ "Birth certificate (Australian)". Unique Student Identifier, 14 Jun, 2023, https://www.usi.gov.au/students/identification/australian-birth-certificate .
• ↑ Raveenthiran V. Neonatal Sex Assignment in Disorders of Sex Development: A Philosophical Introspection. J Neonatal Surg. 2017 Aug 10;6(3):58. doi: 10.21699/jns.v6i3.604. PMID: 28920018; PMCID: PMC5593477.
• ↑ "Glossary of Terms: Transgender". GLAAD, https://glaad.org/reference/trans-terms/ . Accessed on 19 Jun, 2023.
• ↑ "LGBTQ+ Terminology / Vocabulary Primer". NewYork-Presbyterian, https://www.nyp.org/documents/pps/cultural-competency/Understanding%20Disparities%20-%20LGBTQ%20Terminology.pdf . Accessed on 21 Jun, 2023.
• ↑ "CAGAB". The Trans Language Primer, https://translanguageprimer.com/cagab/ . Accessed on 21 Jun, 2023.
• ↑ 8.0 8.1 8.2 8.3 coded-reality. "October 26: Intersex Awareness Day". Tumblr, 2020, https://coded-reality.tumblr.com/post/188611961035/october-26-intersex-awareness-day .
• ↑ 9.0 9.1 9.2 nonbinary-support. "Hey! I'm intersex.". Tumblr, 2016, https://nonbinary-support.tumblr.com/post/131461402043/hey-im-intersex-do-i-need-to-use-agab-language .
• ↑ Zhu, Handwiki. "Gender." Encyclopedia . Web. 07 November, 2022.
• ↑ 11.0 11.1 "Understanding Gender Identities". The Trevor Project, 23 Aug, 2021, https://www.thetrevorproject.org/resources/article/understanding-gender-identities/ .
• ↑ First MB, Yousif LH, Clarke DE, Wang PS, Gogtay N, Appelbaum PS. DSM-5-TR: overview of what's new and what's changed. World Psychiatry. 2022 Jun;21(2):218-219. doi: 10.1002/wps.20989. PMID: 35524596; PMCID: PMC9077590.
• ↑ "Intro to Understanding Sex, Gender and the Spectrum". kyberia, 21 Apr, 2007, https://kyberia.sk/id/3069259 .
• ↑ Bazant, Micah. "Trans Etiquette/Respect/Support 101". Transtorah, 2011, http://www.transtorah.org/PDFs/Trans_Etiquette_101.pdf .
• ↑ destroyedforcomfort. "AMAB/AFAB vs . CAMAB/CAFAB". Tumblr, 2013, https://destroyedforcomfort.tumblr.com/post/32011963208/amabafab-vs-camabcafab .
• ↑ "Transsexual". TVTropes, https://archive.md/dZncK#selection-4277.1-4401.19 . Archived on 30 Aug, 2017.
• ↑ 17.0 17.1 Santamaria, Susana. "‘Assigned at birth’ appropriated from the intersex community". Times-Call, 6 Feb, 2021, https://www.timescall.com/2021/02/06/letters-sexual-assignment/?fbclid=IwAR18338gF1mWlnVucksTF6R3MulLMQzltg4IT0JFNfla0STJOr6J7eUfNsI .
• ↑ "assign - transcription, translation and pronunciation online". myefe, https://myefe.com/transcription-pronunciation/assign#:~:text=designate%20or%20set%20(something)%20aside%20for%20a%20specific%20purpose .. Accessed on 22 Jun, 2023.
• ↑ 19.0 19.1 O'Hara, Mary Emily. "Nation's First Known Intersex Birth Certificate Issued in NYC". NBC News, 30 Dec, 2016, https://www.nbcnews.com/feature/nbc-out/nation-s-first-known-intersex-birth-certificate-issued-nyc-n701186 .
• ↑ Segal, Corinne. "Nation’s first known ‘intersex’ birth certificate issued in New York City". PBS News Hour, 5 Jan, 2017, https://www.pbs.org/newshour/nation/new-york-city-issues-nations-first-birth-certificate-marked-intersex#:~:text=Meanwhile%2C%20Keenan%20reached%20out%20to%20the%20New%20York%20City%20Health%20Department%2C%20who%20issues%20birth%20certificates%2C%20to%20request%20a%20change%20to%20the%20sex%20listed%20on%20her%20birth%20certificate ..
• ↑ Carpenter, Morgan. "On intersex birth registrations". Intersex Human Rights Australia, 13 Nov, 2009, https://ihra.org.au/4856/on-birth-registrations/ .
• ↑ Muller, Natalie. "Third sex". DW, 1 Nov, 2013, https://www.dw.com/en/third-sex-option-on-birth-certificates/a-17193869 .
• ↑ Savage, Rachael. Anarte, Enrique. "Austria issues first intersex birth certificate after four-year battle". Reuters, 17 Jul, 2020, https://www.reuters.com/article/us-austria-lgbt-rights-trfn-idUSKCN24H33M .
• ↑ 24.0 24.1 Koenig, Ronnie. "Transgender parent explains why they are raising baby without an assigned gender". Today, 18 Jul, 2017, https://www.today.com/parents/transgender-parent-leaves-their-baby-s-gender-unassigned-t113796 .
• ↑ 25.0 25.1 Dr Kelly, Fiona. "Removing sex from birth certificates". La Trobe University, Robert, Hannah, 29 Oct, 2018, https://www.latrobe.edu.au/news/articles/2018/opinion/removing-sex-from-birth-certificates .
• ↑ "AFAB". Merriam-Webster, https://www.merriam-webster.com/dictionary/AFAB . Accessed on 19 Jun, 2023.
• ↑ beyond-mogai-pride-flags. "DFAB Flag". Tumblr, 15 Oct, 2020, https://archive.md/2022.02.12-070010/https://beyond-mogai-pride-flags.tumblr.com/post/632047659950194688/dfab-flag . Archived on 12 Feb, 2022.
• ↑ themogaidragon. "AIAB". Tumblr, 17 Sep, 2021, https://themogaidragon.tumblr.com/post/662581001970728960/aiab .
• ↑ "AMAB". Merriam-Webster, https://www.merriam-webster.com/dictionary/AMAB . Accessed on 19 Jun, 2023.
• ↑ beyond-mogai-pride-flags. "DMAB Flag". Tumblr, 15 Oct, 2020, https://archive.md/2022.02.12-084755/https://beyond-mogai-pride-flags.tumblr.com/post/632047211246764032/dmab-flag . Archived on 12 Feb, 2022.
• ↑ beyond-mogai-pride-flags. "AXAB Pride Flag". Tumblr, 9 Oct, 2020, https://archive.md/2022.02.12-094909/https://beyond-mogai-pride-flags.tumblr.com/post/631548226993012736/axab-pride-flag . Archived on 12 Feb, 2022.
• ↑ 32.0 32.1 interarchival. "fafab + famab". Tumblr, 27 Dec, 2021, https://web.archive.org/web/20230107041309/https://interarchival.tumblr.com/post/671776339598196736/fafab-famab . Archived on 7 Jan, 2023.
• ↑ 33.0 33.1 https://interarchival.tumblr.com/post/671769367452778496/iafab-iamab [Dead Link]
• ↑ beyond-mogai-pride-flags. "UAB Pride Flag". Tumblr, 3 Mar, 2019, http://archive.today/2022.04.20-012243/https://beyond-mogai-pride-flags.tumblr.com/post/183189528435/uab-pride-flag . Archived on 20 Apr, 2022.

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• J Clin Res Pediatr Endocrinol
• v.12(4); 2020 Dec

Gender Identity and Assignment Recommendations in Disorders of Sex Development Patients: 20 Years’ Experience and Challenges

Fatih gürbüz.

1 Çukurova University Faculty of Medicine, Department of Pediatric Endocrinology, Adana, Turkey

Murat Alkan

2 Çukurova University Faculty of Medicine, Department of Pediatric Surgery, Adana, Turkey

Gonca Çelik

3 Çukurova University Faculty of Medicine, Department of Child Psychiatry, Adana, Turkey

Atıl Bişgin

4 Çukurova University Faculty of Medicine, Department of Medical Genetics, Adana, Turkey

Necmi Çekin

5 Çukurova University Faculty of Medicine, Department of Forensic Medicine, Adana, Turkey

İlker Ünal

6 Çukurova University Faculty of Medicine, Department of Biostatistics, Adana, Turkey

Ali Kemal Topaloğlu

Ünal zorludemir, ayşe avcı, bilgin yüksel.

Gender assignment in infants and children with disorders of sex development (DSD) is a stressful situation for both patient/families and medical professionals.

The purpose of this study was to investigate the results of gender assignment recommendations in children with DSD in our clinic from 1999 through 2019.

The mean age of the 226 patients with DSD at the time of first admission were 3.05±4.70 years. 50.9% of patients were 46,XY DSD, 42.9% were 46,XX DSD and 6.2% were sex chromosome DSD. Congenital adrenal hyperplasia (majority of patients had 21-hydroxylase deficiency) was the most common etiological cause of 46,XX DSD. In 46,XX patients, 87 of 99 (89.7%) were recommended to be supported as a female, 6 as a male, and 4 were followed up. In 46,XY patients, 40 of 115 (34.8%) were recommended to be supported as a female, and 70 as male (60.9%), and 5 were followed up. In sex chromosome DSD patients, 3 of 14 were recommended to be supported as a female, 9 as a male. The greatest difficulty in making gender assignment recommendations were in the 46,XY DSD group.

Conclusion:

In DSD gender assignment recommendations, the etiologic diagnosis, psychiatric gender orientation, expectation of the family, phallus length and Prader stage were effective in the gender assignment in DSD cases, especially the first two criteria. It is important to share these experiences among the medical professionals who are routinely charged with this difficult task in multidisciplinary councils.

What is already known on this topic?

Gender assignment in disorders of sex development (DSD) patients is always very difficult, complex and demanding experience in the management for both families and clinicians, particularly in cases where the gender appropriate for the clinical diagnosis is incompatible with the psychological gender of the patient. Gender assignment councils must have an experienced and multidisciplinary approach.

What this study adds?

Here, we present 20 years of experience and challenges in gender assignment, the causes and clinical characteristics of patients with DSD. This study is the longest timeframe, is the most comprehensive and has the largest number of cases in terms of gender assignment recommendation and assessing the factors affecting gender assignment from Turkey.

Introduction

According to Jost’s paradigm, the first sexual development stage begins with the identification of the chromosomal sex at the time of fertilization and is completed as a result of many biological process ( 1 ). Money et al. ( 2 ) added the theory of psychosexual development to this paradigm. This theory is influenced by hormonal and genetic status, environmental and psychosocial experiences, and social and parental behavior ( 3 , 4 , 5 ). Any defect occurring during this complicated process of sexual differentiation may lead to a discordant development of chromosomal, gonadal, and anatomical sex/phenotype and is defined as disorders of sex development (DSD) ( 6 , 7 , 8 ). DSD are a heterogeneous group of rare conditions which include various etiologies and presentations ( 9 , 10 , 11 ). The incidence of DSD is almost 1 in 4,500-5,500 ( 10 , 11 , 12 ).

The long-term physical, social and psychological outcomes of patients with DSD are still unclear. There are increasing concerns regarding early decisions about gender assignment in recent reports ( 13 , 14 , 15 , 16 , 17 , 18 ). Studies have been generally conducted regarding psychosexual and surgical outcomes in this group of patients ( 19 , 20 , 21 , 22 ). Gender assignment of a child with DSD is the most difficult and stressful condition for both the family and the clinician, especially in cases of ambiguous genitalia ( 6 , 23 , 24 ). Families will always want to know the actual gender of their DSD baby as soon as possible and give their baby a gender appropriate name. The primary goal in DSD is for gender identity to be consistent with the gender assigned ( 6 ). In this respect, a multidisciplinary approach is required for the diagnosis and treatment of DSD ( 25 ). Influencing factors to consider when debating gender assignment include medical diagnosis, external genital appearance, potential of fertility and sexuality, therapeutic and/or surgical intervention options, views and desires of the patients and their families, sociocultural factors, and the psychological gender development status of the child ( 26 , 27 , 28 ).

There is a multidisciplinary council to make gender assignment recommendations in DSD patients which, in our clinic, consists of pediatric endocrinology, pediatric surgery, pediatric psychiatry, medical genetics and forensic science specialists. Here, we present 20 years of experience at a single regional referral center in assistance with gender assignment in DSD patients.

The purpose of this study was to investigate the results of gender assignment recommendations in children with DSD and the factors affecting these results in our clinic. In the present study, the file records of the 226 children with DSD admitted to the Department of Pediatric Endocrinology of Çukurova University between the years of 1999 and 2019 were reviewed. The clinical diagnosis of a DSD was supported by anatomical examination findings, gonadal and pelvic ultrasound, cytogenetic studies, determination of serum electrolytes, 17-hydroxyprogesterone levels, the ratio of testosterone-dihydrotestosterone (basal and hCG stimulated) and molecular genetic testing. 21-hydroxylase deficiency (21-OHD) (72 of 88), 11-beta-hydroxylase deficiency (6 of 6), 17-beta-hydroxysteroid dehydrogenase type 3 deficiency (4 of 4), Steroidogenic Acute Regulatory Protein (STAR) gene mutations (5 of 5), complete androgen resistance (8 of 9), incomplete androgen resistance (6 of 6), 5-alpha-reductase deficiency, (19 of 19), Leydig cell aplasia/hypoplasia (2 of 2), 17-alpha-hydroxylase deficiency, (1 of 1), DSS-AHC Region on Human X Chromosome ( DAX1 ; also known as NR0B1 ) (2 of 2), NR5A1 (SF1) (2 of 2), Persistent Mullerian Duct syndrome (1 of 1), and Klinefelter syndrome (2 of 2) were diagnosed by cytogenetic studies and molecular genetic analyses. However, mixed gonadal dysgenesis, gonadal dysgenesis, ovotestis and Sertoli cell only syndrome were diagnosed by laparoscopy with gonadal biopsy, and molecular genetic testing. All the genetic testing was performed for diagnostic purposes after consent from the patients or child’s legal representative.

Laparoscopy and gonadal biopsy were performed in selected DSD patients for determination of gonadal histology. Cystoscopy was performed in order to examine urethra, uterus and uterine remnants.

Our center is the first, and the oldest and largest ‘Gender Evaluation Council’ in the region. This council consists of pediatric endocrinologists, pediatric surgeons, child psychiatrists, specialists in forensic medicine and a medical geneticist. Gender assignment recommendations were made by this council. The role of the council is to evaluate medical data, to conduct expert discussion, and to provide information and medical advice to the patient and/or family. The council ensures that ample time and opportunities are provided to patient and families for their questions, concerns, and counseling needs.

Exclusion criteria for this study were: DSD patients who did not need gender assignment (therefore not discussed in the council) such as Turner syndrome and isolated hypospadias. Written inform consent was obtained after the council from the parents or legal guardians of all the patients before participation. The study protocol was approved by the Ethics Committee of Çukurova University and performed in accordance with the ethical standards of the Declaration of Helsinki (ethical decision no: 452018.77/10).

Background clinical data obtained from medical file records included age at the time of first admission and meeting, reason for admission, genital examination findings, Prader stage, karyotype, diagnosis, psychiatric gender orientations, gender patient was being raised as, parents’ views and requests for the gender, number of council meetings held for each patient, and gender assigned. Although genital phenotype evaluation according to the Sinnecker classification is more appropriate for 46,XY DSD cases ( 29 ), all patients were evaluated via Prader classification in order to avoid confusion ( 30 ).

The patients were classified into three main groups on the basis of the karyotype of the affected individual, according to The Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology consensus ( 8 , 9 , 31 ). These groups are: 46,XX DSD; 46,XY DSD; and sex chromosome DSD.

The psychological evaluation for gender orientation was based on psychiatric interview with children and according to Diagnostic and Statistical Manual of Mental Disorders-5 diagnostic criteria ( 32 ).

Statistical Analysis

All analyses were performed using SPSS, version 20.0 statistical software package (IBM Inc., Armonk, NY, USA). Categorical variables were expressed as numbers and percentages, whereas continuous variables were summarized as mean and standard deviation (SD). Chi-square test was used to compare categorical variables between the groups. The normality of distribution for continuous variables was confirmed with the Shapiro-Wilk test. For comparison of continuous variables between two groups, the Student’s t-test or Mann-Whitney U test was used depending on the distribution being normal or non-parametric, respectively. For comparison of continuous variables between more than two groups, Kruskal Wallis test was used. Bonferroni adjusted Mann-Whitney U test was used for pairwise comparisons of groups. The statistical level of significance for all tests was considered to be 0.05.

A total of 226 patients were classified as 46,XY DSD (n=115, 50.9%), 46,XX DSD (n=97, 42.9%) or sex chromosome DSD (n=14, 6.2%) ( Table 1 ). The mean±SD age at first admission of the patients was 3.05±4.70 (range 0-17.58) years.

Of the 226 patients, ambiguous genitalia (n=141, 62.4%) was the most frequent cause of admission for all three groups ( Table 1 ).

When the diagnostic distribution of the patients was examined, congenital adrenal hyperplasia (CAH) was the most common cause of DSD. Among the 46,XX DSD (n=97) patients, 21-OHD was the most common (n=88, 90.7%) ( Table 1 ). The most common cause amongst 46,XY DSD cases (n=115) was 5-alpha reductase deficiency (n=19, 16.5%). This was followed by complete androgen insensitivity syndrome (CAIS) and incomplete androgen resistance (PAIS) (total n=15, 13%). Forty-two (18.6%) of all cases had undetermined causes for DSD. The vast majority of these were 46,XY DSD cases (40/42, 95.2%) ( Table 1 , ​ ,2 2 ).

The psychiatric evaluation of cases showed that only about half of the 46,XX DSD patients had female and one in three of the 46,XY DSD patients had male gender orientation. In the sex chromosome DSD cases, female gender was 4/15 and male gender was 5/14 patients and 5/15 patients had no sexual orientation ( Figure 1 ).

Gender orientations and gender assignment recommendations

DSD: disorders of sex development, F: female, M: male, NSO: no sexual orientation

*Two of the 3 cases with 46,XX related to 21-hydroxylase deficiency were raised as a male and their families insisted on an assignment recommendation as the male gender. The other one case had female gender orientation, but the family wanted to raise as the male gender. The remaining one 46,XX DSD patient had 11-OH deficiency, and raised as the male gender. Moreover, patient’s family wanted to raise as the male gender although the patient had menstrual bleeding.

**For 2 cases with 46,XY DSD diagnosed with 5-alpha reductase deficiency a follow-up recommendation was made, who were raised as female gender instead of male gender by their parents. Families were persistently wanting for a female assignment to be made. The other two 46,XY DSD cases had a diagnosis of gonadal dysgenesis and had not yet developed a gender orientation. The one 46,XY DSD patient had 17-betahydroxysteroid dehydrogenase type 3 deficiency, was raised as a female and the family asked for a male gender assignment.

***The one Klinefelter syndrome case was raised as a female and her family wanted to raise as the female gender. The other one patient was mixed gonadal dysgenesis and had no gender orientation yet.

The median age of all cases was 1.90 (mean: 4.46±4.98, range 0.12-18.63) years at the time of the council meeting. For each of the categories 46,XX DSD, 46,XY DSD and sex chromosome DSD patients these median ages were 1.60 (mean: 3.20±3.92, range 0.12-18.56), 2.98 (mean: 5.49±5.41, range 0.13-18.38) and 1.67 (mean: 4.77±6.15, range 0.21-18.63) years, respectively (p=0.004). While 200 (88.5%) of 226 patients had gender assignment at the first council meeting, 26 patients (11.5%) had more than one council meeting of whom 18/26 were 46,XY DSD, six were 46,XX DSD and two were sex chromosomal DSD patients. It is notable that patients requiring more than one meeting were mostly 46,XY DSD cases.

The mean age intervals of presentation and being considered at the meeting for 46,XX DSD, 46,XY DSD, and sex chromosome DSD were 1.19±2.03 (range 0.06-10.96) years, 1.45±2.12 (range 0.03-11.97) years and 2.73±4.58 (range 0.02-15.08) years, respectively. It was found that, these intervals were not different according to the DSD diagnosis (p=0.113), Prader stage (p=0.949) and decision (p=0.062).

In 46,XY DSD patients, 40 of 115 (34.8%) were recommended to be assigned as a female gender ( Figure 1 ). The female gender assignment recommendation in these cases was made for all of the CAIS, Leydig cell aplasia/hypoplasia, STAR gene mutations, 17-alpha hydroxylase and DAX1 (NR0B1) mutation cases according to the genetic diagnosis ( Table 2 ).

Eleven of 226 cases (4.8%) were followed without a gender assignment ( Figure 1 ). The common characteristic of all these cases who were not assigned a gender was that the family’s gender expectation was not compatible with chromosomal analysis, specific diagnosis, Prader stage and/or psychiatric evaluation.

When the effect of phallus length on the assignment recommendation was examined, it was found that in all three groups, phallus length was significantly higher in male assignments than in female assignments ( Table 3 ).

According to the Prader classification with gender assignments recommendation, lower Prader stages (especially stage 1) were effective in making a female gender assignment in 46,XY DSD and sex chromosomal DSD cases. In addition, as the Prader stage increased, the decision-making ratio was gradually increased in favor of the male gender. However, the higher Prader stages were not associated with making a male gender assignment in 46,XX DSD cases. Moreover, the gender assignment of patients with Prader stage 1-4 was the female gender in a very large number of the 46,XX DSD cases. In general, it was found that a lower Prader stage was more effective in making a female gender assignment recommendation, than making a male gender assignment recommendation with a higher Prader stage ( Table 4 ).

In this study, 20 years of experience in helping gender assignment, the causes and clinical characteristics of patients with DSD in a single referral clinic are presented. Gender assignment is always very difficult, complex and demands experience in the management of patients with DSD for both families and clinicians, particularly in cases where the gender appropriate for the clinical diagnosis is incompatible with the psychological gender of the patient. It should be recognized that every DSD is unique and has to be treated with individualized care. To our knowledge, this study has the longest timeframe, is the most comprehensive and has the largest number of cases in terms of gender assignment recommendation and assessing the factors affecting gender assignment from Turkey.

DSD are a heterogeneous group of conditions, which has an estimated incidence of 1:4500-5500 ( 10 , 11 , 12 , 33 , 34 ). In a recent study from Turkey by Aydin et al ( 35 ), it was found that the DSD newborn with ambiguous genitalia rate was 1.3/1000 newborns. However, this rate may be higher in our region where there is an increase in autosomal recessive forms of DSD due to higher rates of consanguinity, around 20% to 25% ( 35 ). This is in contrast to the consanguineous marriage rate reported by Aydin et al ( 35 ) (3 families of total 18 DSD patients). Nordenvall et al ( 36 ) remarked that the developmental anomalies of the external genitalia may be seen in 1:300 infants. However, not all of these conditions require gender assignment, including relatively common conditions such as isolated undescended testis and/or hypospadias.

Previous studies have reported a higher incidence of 46,XY DSD compared to 46,XX or sex chromosome DSD ( 35 , 37 , 38 , 39 , 40 , 41 , 42 ). In accordance with this the most common DSD group in our cohort was 46,XY DSD (50.9%). In a study with 117 patients from Thailand, it was reported that most of the cases were sex chromosome DSD (53%) ( 43 ). However, the majority of these patients were Turner syndrome. Girls with Turner syndrome were excluded from the present study because there is no necessity for gender assignment. Two Klinefelter syndrome patients were included because of ambiguous genitalia but other patients with Klinefelter syndrome without ambiguous genitalia, and thus without requirement for a gender assignment process were excluded.

Most patients with DSD are referred with ambiguous genitalia ( 35 , 37 , 38 , 39 , 43 ). In this study, ambiguous genitalia was the most common cause of admissions for all three DSD classifications ( Table 1 ).

Despite the current advanced genetic analyses, a definitive genetic diagnosis can only be made in about 20% of cases of DSD ( 11 , 12 , 31 , 37 ). Compatible with this information, the rate of patients with undetermined causes of DSD was 18.6% (42/226) in our study. There were only two patients (2%) with undetermined causes in the 46,XX DSD group whereas this was 40/115 (34.7%) amongst the 46,XY DSD cases, thus constituting 40/42 (95%) of the patients without a definitive genetic diagnosis.

The etiologic cause of most of the patients with 46,XX DSD is CAH due to 21-OHD ( 37 , 38 , 39 , 44 ). In this study, CAH was the most common underlying etiological condition of 46,XX DSD ( Table 1 ). CAH due to 21-OHD and 11-OHD accounted for 97.9% of 46,XX DSD in our series. Similarly, Ocal et al ( 39 ) found that 21-OHD and 11-OHD were the most frequent etiology (88.8%) of their 46,XX DSD group. De Paula et al (38) from Brazil with a 408 case series of genital ambiguity, Al-Mutair et al ( 45 ) from Saudi Arabia with a total of 120 DSD patients, and Al-Agha et al ( 46 ) from Australia report that the main etiology of 46,XX DSD was 21-OHD. However, Ganie et al ( 37 ) reported that the main referring cause of 46,XX DSD was ovotesticular in patients from sub-Saharan Africa.

It has been reported that only 50% of patients with 46,XY DSD can be given a definite diagnosis ( 44 ). In our study, the rate of 46,XY DSD patients with diagnosed causes was higher (n=75, 65.2%). The reason for this difference may be due to the further development of genetic understanding over the years. 5-alpha reductase deficiency was the most common etiology followed by CAIS and PAIS in 46,XY DSD ( Table 1 , ​ ,2). 2 ). The etiological distributions of both 46,XX DSD and 46,XY DSD patients were similar to previous studies ( 38 , 39 , 41 , 45 , 46 , 47 ). Contrary to this, Ganie et al ( 37 ) report that the main etiological cause of 46,XY DSD was disorder of androgen synthesis or action.

Mixed gonadal dysgenesis was the most common etiology in the sex chromosome DSD group in our study (85.7%) which excluded Turner syndrome. Jaruratanasirikul and Engchaun ( 43 ) from Thailand reported that the most common sex chromosome DSD was Turner syndrome followed by Klinefelter syndrome and 45,X/46,XY DSD. Similar to this report, Ganie et al ( 37 ) from South Africa, with a total 346 cases diagnosed with DSD, noted that Turner syndrome constituted the largest proportion of the sex chromosome DSD group (61%), followed by mixed gonadal dysgenesis.

Gender identity is a characteristic which is influenced by various prenatal and postnatal variables. Psychosexual development plays an important role in the formation of sexual identity and is the main component of sexual identity, which is influenced by genetic status, pre/postnatal exposure to androgens, sociocultural factors, and family dynamics ( 6 , 39 , 48 , 49 ). Gender assignment is an important problem in DSD patients who have a virilized brain with undervirilized external genitalia ( 13 , 14 , 15 , 39 ).

Eleven of 97 46,XX patients (11.3%) had male gender orientation in the psychological evaluation, and were raised as the male gender by parents (nine were 21-OHD, one was 11-OHD, and one had Sertoli cell only syndrome; mean age of cases was 9.92±4.96 years). At the council meeting, six of these 11 cases were gender assignment recommendation male, two as female and three were not assigned and were recommended to be followed up.

Five of the patients who received a male assignment recommendation were 46,XX 21-OHD CAH and the other one was Sertoli cell only syndrome ( Table 2 ). The mean age at presentation and at the time of the meeting of these five 21-OHD CAH patients was 7.56±5.26 years and 10.66±3.88 years, respectively. It was found that all of these patients were Prader stage 4-5, raised as male and their psychologic gender orientation was male, and all of the parents demanded a male gender assignment. The factors most strongly influencing recommended gender assignment in 46,XX cases included etiological diagnosis, age, psychologic gender and Prader staging ( Table 2 , ​ ,4 4 ).

Similar to our study, Khattab et al ( 13 ) report three 46,XX with 21-OHD CAH patients who were reared as male gender. In another study, of 50 DSD patients, 4/11 cases diagnosed with 46,XX DSD due to CAH had assumed a male social gender ( 15 ). This condition occurs due to prenatal and/or postnatal exposure to high levels of androgens that promote the masculinization of gender behavior ( 16 , 50 ). With the recent implementation of national neonatal CAH screening, it is hoped that late diagnosis of CAH, and therefore ambiguous genitalia, will be prevented.

For our council, the greatest difficulty in making gender assignment recommendations was in the 46,XY DSD group. The mean length of the phallus of patients who received a female assignment was 0.82±0.71 cm and 90% were Prader stage 1-2; etiological causes of these cases is shown in Table 2 . Most of the 46,XY DSD patients who had no etiological diagnosis and had female gender assignment recommendations were Prader stage 1-2. Interestingly, psychological evaluation of these cases showed 8/9 had female gender and 1/9 had no gender orientation.

The majority, 93.7%, of the 46,XY cases with a male gender assignment recommendation and no etiological diagnosis were Prader stage 3-5. Moreover, 62.5% of these patients had no gender orientation yet. These findings suggest that, besides the etiologic diagnosis, the expectation of the family, phallus length and Prader stage were effective in the female assignment recommendations in 46,XY DSD cases. Furthermore, if there is no definite etiologic diagnosis, the most important factors in determining the gender assignment recommendation in 46,XY DSD patients were Prader stage and psychological gender orientation.

Study Limitations

The major limitation of this study was the patients were only considered from presentation until the final decision for each individual by the gender assignment recommendation council. Due to ethical concerns, follow-up of patients after gender assignment recommendation was not included and thus there is no measure of agreement or discordance with the decision of the council reported.

The most difficult aspect of managing a patient with DSD diagnosis who has ambiguous genitalia is the assignment of an appropriate gender. Specific diagnosis and psychological gender are more effective in gender assignment of DSD patients with an etiologic cause. Phallus length and Prader stage are important criteria in the gender assignment of patients with undiagnosed DSD. In this cohort none of the clinical, etiological or genetic features of the patients dominated the gender assignment decision. Gender assignment should be determined by evaluating the patient’s chromosome structure, specific diagnosis, fertility, Prader stage, phallus length, psychological orientation, family wish and the consensus opinion of experienced specialist physicians. Gender assignment becomes more difficult, especially if there is a mismatch of the gender the child is raised as, with the etiologic diagnosis. Gender assignment councils must have an experienced and multidisciplinary approach to the diagnosis, medical and/or surgical treatment, psychosocial support, and genetic counseling of patients with DSD. We hope that by publishing our extensive experience in this challenging clinical area we will help other clinicians and patients facing these difficult choices.

Acknowledgments

The authors would like to thank the patients and their parents who participated in this study.

Ethics Committee Approval: The study protocol was approved by the Ethics Committee of Çukurova University and performed in accordance with the ethical standards of the Declaration of Helsinki (ethical decision no: 452018.77/10).

Informed Consent: Written inform consent was obtained after the council from the parents or legal guardians of all the patients before participation.

Peer-review: Externally peer-reviewed.

Authorship Contributions

Financial Disclosure: The authors declared that this study received no financial support.

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Glossary of Must-Know Gender Identity Terms

Verywell / Alex Dos Diaz

A Through E

F through l, m through r, s through z.

Gender identity terms are words that are used to help convey meaning related to how people identify with particular genders regardless of their sex assignment at birth. While it may seem arbitrary to some people, the words that we use are extremely important as they can be used to either exclude or empower. Choosing words carefully when we speak can help to affirm someone’s identity and challenge discrimination against them.

On the other hand, choosing not to use the words someone prefers can be disempowering and demeaning. To help you recognize the words that are best in each situation and be an ally , it helps to familiarize yourself with common terms. Given that terms are also constantly changing, it can be helpful to ask someone how they self-identify to make sure that you are using the language that they prefer and that feels affirming to them.

You may feel awkward or uncomfortable asking someone their pronouns , for example, but rest assured that people are generally happy to educate to ensure they are identified correctly.

In addition, terms may not be standard across cultures, languages, and different groups of people. In particular, if you grew up as part of Gen X or an older generation, chances are that all of these terms feel somewhat new to you. While you may feel that you are at a disadvantage in terms of knowing what to say, there’s no need to worry that you are going to say the wrong thing if you are willing to learn.

While in the past people were accustomed to speaking in binary language (male vs. female gender matching assigned sex only), this terminology ignored people who experience a sense of gender that doesn’t fit into societal norms. This also reflected a limited understanding of gender that doesn’t account for the variations of identities that we know to exist today.

Below is a glossary of terms to help you familiarize yourself with the different words and meanings that you may encounter. Remember that these terms are constantly changing and it's important to stay up-to-date by asking people about their preferred terms.

AFAB: Acronym with the meaning “assigned female at birth.”

AMAB: Acronym with the meaning “assigned male at birth.”

Agender: Referring to a person who does not identify with any gender identities, most people who use agender don't feel that they have a gender at all.

Ally: Ally is a term to describe anyone who actively and fully supports the LGBTQIA+ community.

Androgynous: Referring to a person with a gender identity or presentation that is neutral or has both masculine and feminine parts. Synonyms include null-gender, androgyne, genderless, and neutrosis.

Assigned Sex at Birth: A medical assignment given at birth based on physical characteristics of the body. This can refer to male, female, or also intersex.

Bigender : Referring to a person who identifies with two different genders at the same time.

Body Dysphoria: Discomfort about the body that is related to gender identity and misalignment with physical characteristics such as anatomy, secondary sex characteristics, reproductive organs, etc.

Cisgender or Cisnormativity: A person whose gender identity or subconscious sex aligns with the sex that they were assigned at birth. For example, a person assigned the sex of a male at birth who identifies as male gender would be considered cisgender. Similarly, a person assigned the sex of female at birth and who identifies as female gender would be cisgender .

Most people are cisgender and so this is considered the “norm,” which can lead to systemic and unintentional prejudice against trans people in society. However, cisgender individuals can also be gender non-conforming . The Latin prefix “cis” means “on the same side.”

Cisgender Privilege : Referring to the experience of never having one’s natural sexual identity be questioned by society. This leads to the behavior of taking for granted that everyone has the same life experience and a lack of struggle with their gender identity.

Coming out: The ongoing process of disclosing one's gender identity to oneself and others (e.g., with friends, at work, with family).

Cross-Dresser: A person who wears clothing that is not typical for their gender. Usually, the term is used for men who prefer to dress in women’s clothing. This may be done for self-expression or other reasons. Synonyms include transvestite or drag queen. Being a cross-dresser does not automatically equal being transgender, some people may just do this to express themselves.

Deadname: Name assigned at birth that the individual does not identify with. Deadnames reflect the idea that the name is no longer how the person identifies, hence the word “dead.” Being deadnamed can cause trans people to experience dysphoria.

Demigender/Demiboy/Demigirl: The prefix “demi” indicates a person who has the experience of partially identifying with a particular gender and includes those who may be nonbinary. Other related terms include demienby and demitrans.

Family of choice: The circle of friends, partners, etc. that people who are LGBTQIA+ choose to associate with because they provide validation, support, and a feeling of belonging that they may be missing in their biological family.

Female-to-male (FTM): Referring to people who were assigned female at birth but who identify as male. This may or may not involve changing the body through medical procedures or surgeries.

Feminine-of-center: Referring to a person who identifies with a feminine gender expression regardless of whether they consider themself a woman or were assigned the sex of female at birth.

Feminine-presenting: Referring to a person with an outward gender expression that appears feminine. For example, this could be shown through style, mannerisms, body language, etc.

Femme: Referring to a person with a gender identity or expression that leans toward being feminine in general. A person who is femme does not necessarily identify as a woman and is not necessarily assigned the female sex at birth by a doctor.

Gender Affirmation Surgery: Surgery to affirm an individual’s gender identity that involves changing primary or secondary sex characteristics. This can be necessary to alleviate gender dysphoria.

Gender Apathetic: Referring to a person who does not care about their gender nor how they appear to others in terms of their gender. In other words, they do not identify with any particular gender.

Gender Binary: A binary division of gender into only two types (man or woman) which is expected to match the sex assigned at birth (male, female, or intersex). This system does not allow for people who identify with a gender that does not fit the binary system or people who feel their gender is fluid rather than fixed.

Gender Conforming: Referring to a person who follows the rules of society about how genders should act, behave, and appear to others.

Gender Dysphoria: A medical diagnosis and term to reflect the distress experienced by individuals who have a misalignment between their sex assigned at birth and the gender that they identify with internally. This means that a person doesn’t feel right about their body parts, physical characteristics, or societal interactions in terms of their internal experience of gender.

Gender Expansive: Referring to people who work to make culture more inclusive in terms of gender expression, gender roles, and gender norms in society.

Gender Expression: The way that a person publicly expresses their gender as masculine, feminine, androgynous, etc. For example, gender can be expressed through their clothing, hair and makeup, body language, chosen name, pronouns, mannerisms, interests, etc.

For trans people, they may also physically alter their body through medical interventions to match their internal gender identity such as hormone therapy or surgery. Also known as gender presentation.

Gender Bender: Referring to an attack on stereotypes about gender that questions norms and expectations in society. May also be referred to as a genderf***.

Genderfluid: Referring to a person who shifts between genders or who feels as though their gender changes over time either rapidly or gradually.

Gender Identity: A core sense of the self as being a woman, man, or neither. This does not always align with the sex assigned at birth and can develop and change over time. It also cannot be assumed based on outward physical characteristics.

Gender-Inclusive Pronouns: Pronouns that are neutral and can be used by both transgender and cisgender people. For example, the words they, them, and theirs when used to refer to a single person are gender-neutral pronouns.

Gender Minority: Referring to people who are transgender or gender non-conforming and are in the minority in relation to society as a whole in terms of the binary view of gender.

Gender Non-conforming (gender variant, genderqueer): People whose gender expression does not follow the gender norms or societal expectations for the sex they were given at birth or their perceived sex. This includes people who are androgynous , feminine men, masculine women, etc. This can include trans people but not all people who are gender non-conforming identify as trans. People of any gender can be gender nonconforming (e.g., cis, nonbinary, trans).

Gender Norms: The cultural and social norms assigned to women and men regarding clothing, appearance, roles, and behavior. For example, women are expected to behave more passively than men, while men are expected to be more dominant than women. People who do not fit gender norms may be singled out (e.g., an overly feminine man or a dominant woman).

Gender Queer: Referring to a person who does not align with the gender binary of man vs. woman.

Gender Questioning: Referring to a person who is questioning aspects of their gender such as their gender identity or gender expression.

Gender Roles: Societal norms about what it means to belong to a certain gender. These can change over time and refer to behaviors, interests, etc. They may also differ across cultures.

Gender Outlaw: A person who does not follow the rules of society as far as being defined in a binary way (male vs. female).

Graygender: Referring to a person who does not experience a strong pull toward any particular gender identity or expression.

Intergender: Referring to a person who does not experience one gender, but rather falls between male and female gender identities.

Internalized Transphobia: Feeling uncomfortable with oneself because of having transgender feelings or a gender identity that does not match one’s assigned sex at birth or the gender roles of society.

Intersex: A person born with characteristics that are not easily categorized as male or female (e.g., reproductive organs, chromosomes, hormones). For example, a man could be born with ovaries instead of testes or a woman could be born with XY chromosomes. Intersex occurs at a rate of about one in 1500 births but most people are assigned either male or female sex at birth regardless of being intersex. Intersex people may identify with their assigned sex, identify with the opposite sex, or identify as intersex. They do not usually identify as trans (transgender or transsexual).

LGBTTTIQ: An acronym representing lesbian, gay, bisexual, transsexual, transgender, two-spirit, intersex, and queer.

LGBT: An acronym representing lesbian, gay, bisexual, transgender.

LGBTQIA+: An acronym representing lesbian, gay, bisexual, transgender, queer/questioning, intersex, asexual/ally, etc.

LGBTQ+ : An acronym representing lesbian, gay, bisexual, transgender, queer/questioning, etc. This acronym is internationally recognized.

LGBTQ2: An acronym representing lesbian, gay, bisexual, transgender, queer/questioning, and two-spirit.

LGBTI: An acronym representing lesbian, gay, bisexual, transgender, and intersex.

“Lived” Gender Identity: The combination of an internal gender identity and how it is publicly expressed (gender expression) in daily life such as when shopping, at work, when in the community, etc.

Male-to-female (MTF): Referring to people who were assigned male at birth but who identify as female. This may or may not involve changing the body through medical procedures.

Masculine-of-Center: People who identify as masculine. These individuals may or may not identify as a man. Being masculine-of-center does not indicate a person’s assigned sex at birth.

Masculine-presenting: People with a gender expression that they consider to be masculine. This includes outward expression through such things as body language, mannerisms, physical characteristics, and style.  This term does not indicate anything about assigned sex at birth.

Maverique: A person who experiences their gender identity to be separate from current categories and descriptions.

Misgender: Calling someone by the wrong pronoun or using language that is not inclusive to their gender identity.

Multi-gender: People who identify with more than one gender. This includes people who identify as bigender, trigender, pangender, polygender, and in some cases, genderfluid.

Neutrois: People who have a gender that is neither male nor female. This includes nonbinary, genderless, genderfluid, and agender identities.

Nonbinary: Nonbinary (sometimes called enby or nb) is an umbrella term for anyone who falls outside the gender binary of male or female. Some people simply identify as non-binary and some identify as a specific type of nonbinary identity. Examples include genderqueer, genderfluid, agender, bigender, etc.

Novigender: A gender identity used to describe the experience of people who don’t feel that their gender can be described using existing categories due to its complexity.

Out or Out of the Closet: Being open about one’s gender identity with others.

Outing Someone: Outing someone means telling a person about someone else's gender identity or sexuality when they may not be out yet. Ex. My friend Stacy told her parents I'm trans when I didn't want them to know yet. Outing someone can be very harmful as they might not be in a safe environment to come out on their own.

Omnigender: A person who identifies with all gender identities.

Pangender: A gender identity that involves experiencing many different gender identities simultaneously.

Passing: The experience of “passing” for one’s gender identity. For example, a transgender individual may be accepted by strangers as being the gender that they identify with even when this is different from their assigned sex at birth. This typically involves cues originating from physical characteristics, behaviors, and mannerisms.

Polygender and Pangender: The experience of displaying different parts from multiple gender identities.

Queer: Previously used as a derogatory term for transgender and transsexual individuals, which has since been reclaimed by the community to display their identities with pride .

Questioning: People who are in the process of questioning their gender identity and wish to explore different options.

Sex: A classification system assigned at birth based on a person’s physical characteristics, reproductive systems, chromosomes, hormones, and secondary sex characteristics. Sex is generally classified at birth as male, female, or intersex based on the appearance of the external genitalia. If these are ambiguous, sex is assigned based on internal genitalia, hormones, and chromosomes. Sex is generally recorded on the birth certificate but can sometimes be changed on this document as well as on other legal documents such as a driver’s license.

Sex Assigned at Birth: The sex assigned to a person at birth based on the existing classification system.

Social Dysphoria: A type of gender dysphoria that arises from distress about how other people label, interact with or perceive an individual. It can also be a result of one’s own behavior that is at odds with their gender identity.

Third Gender: The term third gender comes from native and non-Western cultures. It refers to a gender category that does not divide simply into male or female.

Trans Man/Trans Woman: A trans man is someone who was assigned the sex of “female” at birth but who identifies as a man (also known as female-to-male or FTM). A trans woman is someone who was assigned the sex of “male” at birth but who identifies as a woman (also known as male-to-female or MTF).

Transfeminine: Having a feminine gender identity but being assigned a different sex at birth.

Transgender/Trans: Transgender is as an umbrella term for anyone who identifies as a gender other than the one they were assigned at birth. This includes trans men or women and non-binary identities such as genderfluid, genderqueer, and agender.

Transitioning: Activities engaged in by trans individuals to affirm their gender identity such as changing their name, clothing, pronouns, sex designation, etc. This can include medical treatments such as hormone therapy, sex reassignment surgery, etc. This process is different for every person and the time it takes and activities that are engaged in are not universal.

Transmasculine: Having a masculine gender identity but being assigned a different sex at birth.

Transpositive: This term refers to the opposite of transphobia. This type of attitude is validating and accepting of transsexual and transgender individuals and celebrates their rights.

Transsexual: A person whose gender identity is different from the sex that they were assigned at birth. Transsexual generally means the individual has had gender-affirming surgeries and has fully gone through with their transition.

Transphobia: Intolerance, fear, aversion, prejudice, harassment, discrimination, violence, or hatred aimed at trans individuals and trans communities based on stereotypes and misconceptions.

Trigender: The experience of having three gender identities at the same time.

Two-Spirit: Two-Spirit is an important term in many indigenous cultures. It has no set definition but is mainly used to describe a spiritual view of gender or sexuality. It can be used to describe sexual orientation, gender identity, or spiritual identity. It is a term specific to Indigenous cultures and using it as a non-indigenous person would be cultural appropriation.

A Word From Verywell

Remember that terms are constantly changing and that it is important to keep current and ask people what terms they prefer when you are unsure. Although it may feel confusing, using the terms that affirm a person’s gender identity is no different than letting someone know that you care enough to understand things from their perspective.

Those who are cisgender may experience a type of privilege in that they do not understand what it is like to live with a gender identity that is outside the norm. Rather than trying to understand things through your own set of life experiences and views, it’s important to acknowledge that you can’t possibly understand what it might be like to live as a transgender person or someone with a gender identity that goes against the norm.

In these cases, it is best to defer to someone else’s personal experience of what it is like to live their life and what would help them the most. If someone shares their preferred pronouns with you, keep them in mind the same way that you would if they had told you their first name.

Government of Canada. Gender and Sexual Diversity Glossary .

Persad I. Sexual Orientation and Gender Identity Glossary .

Ontario Human Rights Commission. Appendix B. Glossary for Understanding Gender Identity and Expression .

Government of Canada. LGBTQ2 Terminology. Glossary and Common Acronyms .

By Arlin Cuncic, MA Arlin Cuncic, MA, is the author of The Anxiety Workbook and founder of the website About Social Anxiety. She has a Master's degree in clinical psychology.

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Pride Month

A guide to gender identity terms.

Laurel Wamsley

"Pronouns are basically how we identify ourselves apart from our name. It's how someone refers to you in conversation," says Mary Emily O'Hara, a communications officer at GLAAD. "And when you're speaking to people, it's a really simple way to affirm their identity." Kaz Fantone for NPR hide caption

"Pronouns are basically how we identify ourselves apart from our name. It's how someone refers to you in conversation," says Mary Emily O'Hara, a communications officer at GLAAD. "And when you're speaking to people, it's a really simple way to affirm their identity."

Issues of equality and acceptance of transgender and nonbinary people — along with challenges to their rights — have become a major topic in the headlines. These issues can involve words and ideas and identities that are new to some.

That's why we've put together a glossary of terms relating to gender identity. Our goal is to help people communicate accurately and respectfully with one another.

Proper use of gender identity terms, including pronouns, is a crucial way to signal courtesy and acceptance. Alex Schmider , associate director of transgender representation at GLAAD, compares using someone's correct pronouns to pronouncing their name correctly – "a way of respecting them and referring to them in a way that's consistent and true to who they are."

Glossary of gender identity terms

This guide was created with help from GLAAD . We also referenced resources from the National Center for Transgender Equality , the Trans Journalists Association , NLGJA: The Association of LGBTQ Journalists , Human Rights Campaign , InterAct and the American Psychological Association . This guide is not exhaustive, and is Western and U.S.-centric. Other cultures may use different labels and have other conceptions of gender.

One thing to note: Language changes. Some of the terms now in common usage are different from those used in the past to describe similar ideas, identities and experiences. Some people may continue to use terms that are less commonly used now to describe themselves, and some people may use different terms entirely. What's important is recognizing and respecting people as individuals.

Jump to a term: Sex, gender , gender identity , gender expression , cisgender , transgender , nonbinary , agender , gender-expansive , gender transition , gender dysphoria , sexual orientation , intersex

Jump to Pronouns : questions and answers

Sex refers to a person's biological status and is typically assigned at birth, usually on the basis of external anatomy. Sex is typically categorized as male, female or intersex.

Gender is often defined as a social construct of norms, behaviors and roles that varies between societies and over time. Gender is often categorized as male, female or nonbinary.

Gender identity is one's own internal sense of self and their gender, whether that is man, woman, neither or both. Unlike gender expression, gender identity is not outwardly visible to others.

For most people, gender identity aligns with the sex assigned at birth, the American Psychological Association notes. For transgender people, gender identity differs in varying degrees from the sex assigned at birth.

Gender expression is how a person presents gender outwardly, through behavior, clothing, voice or other perceived characteristics. Society identifies these cues as masculine or feminine, although what is considered masculine or feminine changes over time and varies by culture.

Cisgender, or simply cis , is an adjective that describes a person whose gender identity aligns with the sex they were assigned at birth.

Transgender, or simply trans, is an adjective used to describe someone whose gender identity differs from the sex assigned at birth. A transgender man, for example, is someone who was listed as female at birth but whose gender identity is male.

Cisgender and transgender have their origins in Latin-derived prefixes of "cis" and "trans" — cis, meaning "on this side of" and trans, meaning "across from" or "on the other side of." Both adjectives are used to describe experiences of someone's gender identity.

Nonbinary is a term that can be used by people who do not describe themselves or their genders as fitting into the categories of man or woman. A range of terms are used to refer to these experiences; nonbinary and genderqueer are among the terms that are sometimes used.

Agender is an adjective that can describe a person who does not identify as any gender.

Gender-expansive is an adjective that can describe someone with a more flexible gender identity than might be associated with a typical gender binary.

Gender transition is a process a person may take to bring themselves and/or their bodies into alignment with their gender identity. It's not just one step. Transitioning can include any, none or all of the following: telling one's friends, family and co-workers; changing one's name and pronouns; updating legal documents; medical interventions such as hormone therapy; or surgical intervention, often called gender confirmation surgery.

Gender dysphoria refers to psychological distress that results from an incongruence between one's sex assigned at birth and one's gender identity. Not all trans people experience dysphoria, and those who do may experience it at varying levels of intensity.

Gender dysphoria is a diagnosis listed in the Diagnostic and Statistical Manual of Mental Disorders. Some argue that such a diagnosis inappropriately pathologizes gender incongruence, while others contend that a diagnosis makes it easier for transgender people to access necessary medical treatment.

Sexual orientation refers to the enduring physical, romantic and/or emotional attraction to members of the same and/or other genders, including lesbian, gay, bisexual and straight orientations.

People don't need to have had specific sexual experiences to know their own sexual orientation. They need not have had any sexual experience at all. They need not be in a relationship, dating or partnered with anyone for their sexual orientation to be validated. For example, if a bisexual woman is partnered with a man, that does not mean she is not still bisexual.

Sexual orientation is separate from gender identity. As GLAAD notes , "Transgender people may be straight, lesbian, gay, bisexual or queer. For example, a person who transitions from male to female and is attracted solely to men would typically identify as a straight woman. A person who transitions from female to male and is attracted solely to men would typically identify as a gay man."

Intersex is an umbrella term used to describe people with differences in reproductive anatomy, chromosomes or hormones that don't fit typical definitions of male and female.

Intersex can refer to a number of natural variations, some of them laid out by InterAct . Being intersex is not the same as being nonbinary or transgender, which are terms typically related to gender identity.

The Picture Show

Nonbinary photographer documents gender dysphoria through a queer lens, pronouns: questions and answers.

What is the role of pronouns in acknowledging someone's gender identity?

Everyone has pronouns that are used when referring to them – and getting those pronouns right is not exclusively a transgender issue.

"Pronouns are basically how we identify ourselves apart from our name. It's how someone refers to you in conversation," says Mary Emily O'Hara , a communications officer at GLAAD. "And when you're speaking to people, it's a really simple way to affirm their identity."

"So, for example, using the correct pronouns for trans and nonbinary youth is a way to let them know that you see them, you affirm them, you accept them and to let them know that they're loved during a time when they're really being targeted by so many discriminatory anti-trans state laws and policies," O'Hara says.

"It's really just about letting someone know that you accept their identity. And it's as simple as that."

Getting the words right is about respect and accuracy, says Rodrigo Heng-Lehtinen, deputy executive director of the National Center for Transgender Equality. Kaz Fantone for NPR hide caption

Getting the words right is about respect and accuracy, says Rodrigo Heng-Lehtinen, deputy executive director of the National Center for Transgender Equality.

What's the right way to find out a person's pronouns?

Start by giving your own – for example, "My pronouns are she/her."

"If I was introducing myself to someone, I would say, 'I'm Rodrigo. I use him pronouns. What about you?' " says Rodrigo Heng-Lehtinen , deputy executive director of the National Center for Transgender Equality.

O'Hara says, "It may feel awkward at first, but eventually it just becomes another one of those get-to-know-you questions."

Should people be asking everyone their pronouns? Or does it depend on the setting?

Knowing each other's pronouns helps you be sure you have accurate information about another person.

How a person appears in terms of gender expression "doesn't indicate anything about what their gender identity is," GLAAD's Schmider says. By sharing pronouns, "you're going to get to know someone a little better."

And while it can be awkward at first, it can quickly become routine.

Heng-Lehtinen notes that the practice of stating one's pronouns at the bottom of an email or during introductions at a meeting can also relieve some headaches for people whose first names are less common or gender ambiguous.

"Sometimes Americans look at a name and are like, 'I have no idea if I'm supposed to say he or she for this name' — not because the person's trans, but just because the name is of a culture that you don't recognize and you genuinely do not know. So having the pronouns listed saves everyone the headache," Heng-Lehtinen says. "It can be really, really quick once you make a habit of it. And I think it saves a lot of embarrassment for everybody."

Might some people be uncomfortable sharing their pronouns in a public setting?

Schmider says for cisgender people, sharing their pronouns is generally pretty easy – so long as they recognize that they have pronouns and know what they are. For others, it could be more difficult to share their pronouns in places where they don't know people.

But there are still benefits in sharing pronouns, he says. "It's an indication that they understand that gender expression does not equal gender identity, that you're not judging people just based on the way they look and making assumptions about their gender beyond what you actually know about them."

How is "they" used as a singular pronoun?

"They" is already commonly used as a singular pronoun when we are talking about someone, and we don't know who they are, O'Hara notes. Using they/them pronouns for someone you do know simply represents "just a little bit of a switch."

"You're just asking someone to not act as if they don't know you, but to remove gendered language from their vocabulary when they're talking about you," O'Hara says.

"I identify as nonbinary myself and I appear feminine. People often assume that my pronouns are she/her. So they will use those. And I'll just gently correct them and say, hey, you know what, my pronouns are they/them just FYI, for future reference or something like that," they say.

O'Hara says their family and friends still struggle with getting the pronouns right — and sometimes O'Hara struggles to remember others' pronouns, too.

"In my community, in the queer community, with a lot of trans and nonbinary people, we all frequently remind each other or remind ourselves. It's a sort of constant mindfulness where you are always catching up a little bit," they say.

"You might know someone for 10 years, and then they let you know their pronouns have changed. It's going to take you a little while to adjust, and that's fine. It's OK to make those mistakes and correct yourself, and it's OK to gently correct someone else."

What if I make a mistake and misgender someone, or use the wrong words?

Simply apologize and move on.

"I think it's perfectly natural to not know the right words to use at first. We're only human. It takes any of us some time to get to know a new concept," Heng-Lehtinen says. "The important thing is to just be interested in continuing to learn. So if you mess up some language, you just say, 'Oh, I'm so sorry,' correct yourself and move forward. No need to make it any more complicated than that. Doing that really simple gesture of apologizing quickly and moving on shows the other person that you care. And that makes a really big difference."

Why are pronouns typically given in the format "she/her" or "they/them" rather than just "she" or "they"?

The different iterations reflect that pronouns change based on how they're used in a sentence. And the "he/him" format is actually shorter than the previously common "he/him/his" format.

"People used to say all three and then it got down to two," Heng-Lehtinen laughs. He says staff at his organization was recently wondering if the custom will eventually shorten to just one pronoun. "There's no real rule about it. It's absolutely just been habit," he says.

Amid Wave Of Anti-Trans Bills, Trans Reporters Say 'Telling Our Own Stories' Is Vital

But he notes a benefit of using he/him and she/her: He and she rhyme. "If somebody just says he or she, I could very easily mishear that and then still get it wrong."

What does it mean if a person uses the pronouns "he/they" or "she/they"?

"That means that the person uses both pronouns, and you can alternate between those when referring to them. So either pronoun would be fine — and ideally mix it up, use both. It just means that they use both pronouns that they're listing," Heng-Lehtinen says.

Schmider says it depends on the person: "For some people, they don't mind those pronouns being interchanged for them. And for some people, they are using one specific pronoun in one context and another set of pronouns in another, dependent on maybe safety or comfortability."

The best approach, Schmider says, is to listen to how people refer to themselves.

Why might someone's name be different than what's listed on their ID?

Heng-Lehtinen notes that there's a perception when a person comes out as transgender, they change their name and that's that. But the reality is a lot more complicated and expensive when it comes to updating your name on government documents.

"It is not the same process as changing your last name when you get married. There is bizarrely a separate set of rules for when you are changing your name in marriage versus changing your name for any other reason. And it's more difficult in the latter," he says.

"When you're transgender, you might not be able to update all of your government IDs, even though you want to," he says. "I've been out for over a decade. I still have not been able to update all of my documents because the policies are so onerous. I've been able to update my driver's license, Social Security card and passport, but I cannot update my birth certificate."

"Just because a transgender person doesn't have their authentic name on their ID doesn't mean it's not the name that they really use every day," he advises. "So just be mindful to refer to people by the name they really use regardless of their driver's license."

NPR's Danielle Nett contributed to this report.

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• gender identity

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The importance of communicating histories of gender assignment and reassignment to genetic laboratories

• Jess F Peterson 1 ,
• Peggy J Andringa 2 ,
• John W Grignon Jr 2 &
• Peter vanTuinen 1  

Genetics in Medicine volume  19 ,  pages 1205–1206 ( 2017 ) Cite this article

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Advancements in medicine have allowed for the medical or surgical modification of ambiguous genitalia, or for sex reassignment in transpeople. 1 , 2 , 3 , 4 The etiology of ambiguous genitalia is broad, including genetic alterations, hormone imbalances, gonadal dysgenesis, or structural abnormalities. 2 , 5 Depending on the presence of XY or XX chromosomes, gender assignment is largely dependent on the etiology of ambiguous genitalia. 2 For example, the recommended sex assignment for 46,XX with congenital adrenal hyperplasia or 46,XY and complete gonadal dysgenesis is female, while the recommended sex assignment for 46,XY with 5-alpha-reductase-2 deficiency could be male or female depending on sexual potential. 2 Gender identity indicates the persistent sense of self as a woman or man and, as such, transpeople who identify as the opposite sex may pursue gender reassignment by means of hormone replacement therapy, surgery, or a combination of both. 1 , 2 However, the complexity of gender identity is increasingly perceived as a bimodal continuum instead of a binary categorical system. 4 Several countries, including India, Nepal, Pakistan, and Bangladesh, recognize a third nonmale/nonfemale gender category, and this is listed as such on official government documents. 4

Importantly, gender reassignment will result in a discrepancy between genetic sex (46,XX or 46,XY) and gender identity (female or male), while gender assignment could result in a discrepancy between genetic sex and gender identity. Our laboratory has recently encountered genetic sex and gender identity discrepancies on two occasions, both of which led to extensive laboratory investigations only to discover that sex assignment or reassignment had occurred. Importantly, this information was not indicated on the test requisition forms. Both patients had histories of lymphoma and underwent bone marrow biopsies for staging purposes. Conventional cytogenetics were performed and the genetic sex was opposite to the sex indicated on the test requisition forms. These discrepancies prompted additional investigations to rule out several possibilities including: specimen mix-up from the referring institution; specimen mislabeling in our laboratory; potential specimen mix-ups at various stages of metaphase cell preparation; and histories of opposite sex bone marrow transplants. After exhausting all these explanations for the discrepancy in our first case, our discussion with the referring clinician revealed a history of ambiguous genitalia and gender assignment surgery. For the second case, a thorough search through the patient history revealed female-to-male gender reassignment.

Errors in laboratory medicine are traditionally categorized by pre-analytical, analytical, and post-analytical phases. 6 , 7 , 8 Further subdividing the preanalytical phase, “conventional” preanalytical errors occur under the control of the laboratory, while pre-pre-analytical errors occur outside of the laboratory and can result from test ordering practices, specimen collecting and handling, or transportation. 6 Genetic sex and gender identity discrepancies encountered in genetic laboratories can certainly be classified as pre-preanalytical errors and can have several unfavorable outcomes. First and most importantly, failure to communicate a history of gender assignment or reassignment could pose a serious risk to patient care. For example, risk calculations or recommendations for a patient with a BRCA1/2 mutation could be inaccurate if the family history fails to identify a transgender family member by their genetic sex rather than by gender identity. 9 Some reference ranges for analytes (e.g., hemoglobin, hematocrit, lipid profiles) in clinical chemistry and hematology are also based on genetic sex, and discrepancies could cause unnecessary evaluation, potential misdiagnosis, and unneeded therapy. 10 In addition, troubleshooting major discrepancies in genetic laboratories require a great deal of time and resources. Effectively, communicating a history of gender assignment or reassignment would prevent laboratory personal from spending an exorbitant amount of time investigating discrepant results.

One of several critical aspects identified in the pre-pre-analytical phase includes “the right patient”, and addresses issues associated with patient identification. 8 Avoiding specimen mix-up by using multiple identifiers (e.g., date of birth, name, sex, medical record number) has greatly reduced the risk of errors and is applicable to the majority of specimens handled in laboratory medicine. However, if gender assignment or reassignment has occurred, a potential patient identifier discrepancy may occur (sex reported on the test requisition form versus genetic sex). We have identified several potential solutions to address this issue. Substituting “birth sex” for “sex” on test requisition forms would address those that underwent gender assignment (if the genetic sex is known) or reassignment. Check boxes indicating a history of ambiguous genitalia or gender reassignment could also be incorporated into the test requisition form. Perhaps the most reasonable solution is fostering open and frequent communication between clinicians and laboratory directors. By doing so, laboratory directors could emphasize the importance of communicating histories of gender assignment and reassignment and how they may impact patient care and laboratory operations.

In conclusion, gender assignment and reassignment can lead to patient identifier discrepancies that, if not effectively communicated to the genetics laboratory, could potentially compromise patient care or lead to extensive and unnecessary laboratory troubleshooting. Several options have been proposed that may facilitate gathering this information more readily—most importantly, open and frequent communication between clinicians and laboratory directors.

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Peterson, J., Andringa, P., Grignon, J. et al. The importance of communicating histories of gender assignment and reassignment to genetic laboratories. Genet Med 19 , 1205–1206 (2017). https://doi.org/10.1038/gim.2017.44

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Gender Development

Neither sex assignment at birth or social gender norms define gender expression..

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Research provides evidence that cisgender children (children who identify as a boy or a girl according to their assigned sex at birth) show clear patterns of gender development. By age three, they label their gender based on their sex assignment at birth and prefer children of the same gender as playmates. Throughout early and middle childhood , cisgender children show behaviors that are stereotypically associated with their gender, including preferences for specific toys and clothes.

But what about transgender children (children who live as a gender that differs from their sex assignment at birth)? Transgender children have a completely different gender socialization experience, compared to their cisgender peers. They live a part of their childhood as members of one gender (i.e., the gender associated with their assigned sex at birth) and the other part as members of another gender (i.e., the gender with which they identify). What does their gender development look like? Does it differ from cisgender children’s gender development? Is it influenced by the amount of time in which they have been treated as their current gender?

A recent study published in Proceedings of National Academy of Sciences investigated these important questions in a large sample of 317 transgender children aged from three to 12-years-old. To this end, Gülgӧz and colleagues focused on transgender children’s gender identity — i.e., the internal sense of being a boy or a girl - and their gender expression — i.e., the behaviors and preferences that are highly stereotypical of their current gender.

Gender identity was assessed both at the explicit and implicit levels. Implicit gender identity was measured using an Implicit Association Test (IAT) evaluating the association strength between the concepts “Me” and “Not me” and the categories “Girls” and “Boys.” The IAT is a computer-based time-reaction task that is thought to assess automatic mental associations and representations that are encoded in memory and that occur outside of people’s awareness and control. Explicit gender identity was measured by using a self-reported item asking children whether they felt to be a boy or a girl.

Gender expression, instead, was measured only at the explicit level. That is, children were presented with questions about toy, peer, and clothing preferences and asked to verbally say their answers or point out them on a computer or a response sheet. For example, to determine toy preferences, children were asked to indicate the toy that they would like to play with the most among a series of toys ranging from stereotypically “boys” toys to stereotypically “girls” toys.

Results showed that transgender children identified as members of their current gender group than their assigned sex at birth, both at the implicit and explicit level and reported preferences that were stereotypically associated with it. In other words, transgender boys identified as boys and preferred stereotypically masculine toys and clothes as well as being friends with other boys. Similarly, transgender girls identified as girls and favored stereotypically feminine toys and clothes, and playmates of the same gender.

Notably, Gülgӧz and colleagues showed also that transgender children’s gender identity and expression were not related to the amount of time in which they were treated as their current gender, i.e. when they had socially transitioned, and do not differ from gender development of their cisgender peers. That is, both transgender and cisgender children report to identify with their current gender and showed similar stereotypical gender-typed preferences.

Gülgӧz and colleagues claim that these results “provide preliminary evidence that neither sex assignment at birth nor direct or indirect sex-specific socialization and expectations in alignment with early assignment necessary define how a child later identifies or expresses their gender”. In other words, “early sex assignment and parental rearing based on that sex assignment do not always define how a child identifies or expresses gender later.”

Gülgöz, S., Glazier, J.J., Enright, E.A., Alonso, D.J., Durwood, L.J., Fast, A.A., Lowe, R., Ji, C., Heer, J., Martin C.L., & Olson K.R. (2019). Similarity in transgender and cisgender children's gender development. Proceedings of National Academy of Sciences , 116(49):24480-24485.

Maddalena Marini, Ph.D. , is a postdoctoral researcher at Italian Institute of Technology, where she investigates implicit social beliefs.

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