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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

Quantitative fluorescence polymerase chain reaction

Comparative genomic hybridization

Multiplex ligand-dependent probe amplification

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Douglas G, Axelrad ME, Brandt ML, Crabtree E, Dietrich JE, French S, et al. Consensus in guidelines for evaluation of DSD by the Texas Children's Hospital multidisciplinary gender medicine team. Int J Pediatr Endocrinol. 2010;2010:919707.

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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.

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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 ).

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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 ).

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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 ).

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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 ).

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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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  • 1998 Abstracts The American Pediatric Society and The Society for Pediatric Research
  • Published: 01 April 1998

Gender Assignment at Birth: Three Cases of Reassignment/Ambiguity At or Beyond Adolesence † 466

  • Chanika Phornphutkul 1 ,
  • Charlotte M Boney 1 ,
  • Anne Fausto-Sterling 1 &
  • Philip A Gruppuso 1  

Pediatric Research volume  43 ,  page 82 ( 1998 ) Cite this article

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Gender assignment at birth in cases of ambiguous genitalia (AG) has long been based on anatomical appearance, adequacy of the phallus and/or response to testosterone. Recent reports have questioned the validity of this approach. We have encountered three patients born with AG, all with 46XY karyotype, whose gender assignments were made shortly after birth but later questioned or altered by the patients themselves. CASE 1: This patient, exposed to dilantin in utero , was born with a small phallus (considered to be an enlarged clitoris) and bilaterally descended testes in the labioscrotal fold. Female gender was assigned. No specific hormonal diagnosis was made; however, androgen insensitivity and 5α-reductase deficiency were ruled out. Gonadectomy was performed at 1 mo. of age. Starting at age 4 yr., the patient described herself as not feeling “like a girl”. She was described as “tomboyish” . At 12 y.o. she was started on estrogen but later discontinued the therapy. At age 17 yr. she declared herself male, changed her name, had mammoplasty and began testosterone therapy. CASE 2: An infant, born with AG and non-palpable gonads was assigned male gender at birth and raised as a boy. No specific diagnosis was made. Throughout childhood, he did not accept being told he was “a normal boy” . Hypospadias repair and gonadectomy were done at 5 y.o. At age 11 yr. testosterone was started but the patient did not accept the treatment and has been non-compliant since. Testicular prostheses were placed at 13 y.o. and removed at the patient's request at 18 y.o. Now, at age 27 yr., the patient identifies himself as “intersex” . CASE 3: This patient, born with AG and non-palpable gonads, was assigned female gender at birth because of the presence of a uterus and microphallus. Ovotestes were removed surgically. Vaginoplasty and clitoral recession were performed subsequently. Shortly after starting estrogen treatment at age 12, the patient expressed resistance to hormonal therapy because she was uncertain about her gender identity. SUMMARY: In all three cases, gender assignment was accepted by the patients' parents, but not by the patients themselves. These three cases inidicate that the traditional approach to gender assignment in newborns with AG may be associated with lack of acceptance on the patient's part, thus placing patients at risk for unwanted and unnecessary surgery and/or hormonal therapy.

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Phornphutkul, C., Boney, C., Fausto-Sterling, A. et al. Gender Assignment at Birth: Three Cases of Reassignment/Ambiguity At or Beyond Adolesence † 466. Pediatr Res 43 (Suppl 4), 82 (1998). https://doi.org/10.1203/00006450-199804001-00487

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Grammatical Gender Systems: A Linguist's Assessment

  • Published: September 1999
  • Volume 28 , pages 457–466, ( 1999 )
  • Bernard Comrie 1  

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The notion of grammatical gender is defined and criteria for assigning nouns to genders are discussed, in particular semantic and formal criteria. Data from child language acquisition show that both semantic and formal criteria can be the basis of children's overgeneralizations, although the question of to what extent more opaque semantic or formal gender assignment criteria are available to children remains to be ascertained.

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Comrie, B., & Polinsky, M. (1999). Gender in a historical perspective: radial categories meet language change. In C. F. Justus & E. C. Polomé (Eds.), Language change and typological variation . Washington, DC: Institute for the Study of Man. In press.

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Corbett, G. (1991). Gender . Cambridge: Cambridge University Press.

Dixon, R. M. W. (1972). The Dyirbal language of northern Queensland. Cambridge: Cambridge University Press.

Gvozdev, A. N. (1949). Formirovanie u rebenka grammatičeskogo stroja russkogo jazyka [Development of the grammatical structure of Russian in the child], 1. Moscow: Akademija pedagogičeskix nauk.

Idiata, D. F. (1998). Quelques aspects de l'acquisition de la langue isangu par les enfants [Some aspects of the acquisition of the Isangu language by children]. Doctoral dissertation. Université Lumière Lyon 2. Munich: Lincom Europa. In Press.

Lakoff, G. (1990). Women, fire, and dangerous things. Chicago: University of Chicago Press.

Matthews, P. (1997). The concise Oxford dictionary of linguistics. Oxford: Oxford University Press.

Rajabov, R. (1999). The class category in Tsez. In Howard I. Aronson (ed.), NSL-9. Chicago: Chicago Linguistic Society. In press.

Zubin, D. A., & Köpcke, K.-M. (1981). Gender: a less than arbitrary grammatical category. In Roberta A. Hendrick, Carrie S. Masek, and Mary Frances Miller (eds.), Papers from the Seventeenth Regional Meeting Chicago Linguistic Society, 439-449. Chicago: Chicago Linguistic Society.

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Comrie, B. Grammatical Gender Systems: A Linguist's Assessment. J Psycholinguist Res 28 , 457–466 (1999). https://doi.org/10.1023/A:1023212225540

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New Hampshire House passes bill banning gender reassignment surgeries for minors

by RAY LEWIS | The National Desk

Transgender Flag (Getty Images)

CONCORD, N.H. (TND) — The New Hampshire House passed a bill banning gender reassignment surgeries for minors on Thursday.

House Bill 619 would prohibit juveniles from initiating genital transformations. It would also prevent physicians from undertaking the surgeries or recommending out-of-state facilities.

Those caught engaging in the "unprofessional conduct" would receive discipline.

"In the absence of high quality data to prove safety and efficacy, including long term outcomes, only people over the age of majority should receive genital gender reassignment surgery in the state of New Hampshire," the measure reads.

The bill states gender reassignment surgery violates a patient's "informed consent" since it requires "adequate information" and the "capacity to decide" and "absence of coercion."

READ MORE | Ohio governor vetoes ban on gender-affirming care, transgender athletes in girls sports

"Adolescent genital gender reassignment surgery generally lacks both adequate information for informed consent and involves a high risk of coercion for parental consent when parents believe that they are faced with a choice between their child committing suicide or consenting to their child’s genital gender reassignment surgeries," the bill says.

HB 619 also claims there is a lack of high quality clinical trials providing data on outcomes for pubertal suppression and cross-sex hormones in youth reassignment surgeries.

"We need to wait. We need to pause,” State Rep. Erica Layon, R-Derry, argued, according to InDepthNH.org . “Is it okay to tell parents the procedure is safe and effective if there is no data?”

The legislation also says studies have shown no decrease in minors' suicide risk after receiving surgery. Some rather presented a "significant increase" in suicides and psychiatric hospitalizations.

"Until 16 months ago, these procedures were prohibited by [medical] guidelines,” State Rep. Layon stated, according to the New Hampshire Bulletin .

The World Professional Association for Transgender Health and the Endocrine Society advises against reassignment surgeries for minors.

READ MORE | Chris Christie comes out against banning gender change procedures for minors

State Rep. Gerri Cannon, a Somersworth Democrat and New Hampshire's first elected transgender legislator, argued against the bill.

“This is not about surgery but about why we are considering putting medical processes into New Hampshire law that is constantly changing," State Rep. Cannon said, according to InDepthNH.org. “[Medical providers] are constantly learning new ways to care for patients and new techniques.”

Chris Erchull, an attorney for GLBTQ Legal Advocates & Defenders, predicted the issue would pass the state's Senate.

“It looks like this is going to be up to Governor Sununu to decide whether or not he is going to cave to the interests of people who are out to get transgender people or whether he will follow in the footsteps of Mike DeWine in Ohio and veto harmful legislation that targets the rights of trans people,” Erchull told InDepthNH.org.

gender assignment pdf

  • Main content

Illinois is making fuzzy dice legal again

  • On Monday, hundreds of new laws are set to take effect. 
  • One of them includes an Illinois law that will make rearview mirror decor legal. 
  • The minimum wage will also increase in several states.

Insider Today

Fuzzy dice will finally be free to dangle in Illinois.

Starting Monday, police in the state will no longer be allowed to pull over motorists solely because they have something hanging from their windshield's rearview mirror. That means air fresheners, parking placards, and, yes, even those dice are fair game to hang.

The revised Illinois windshield rule is one of hundreds of new laws taking effect with the new year in states across the US. While some may seem a bit pedestrian, others have practical impacts or touch on controversial issues, such as restrictions on weapons and medical treatments for transgender people.

Though the original Illinois windshield law was meant to improve roadway safety, it came to be seen by some as an excuse for pulling over drivers. The new law still prohibits objects that obstruct a driver's view but forbids law enforcement officers from conducting stops or searches solely because of suspected violations.

"With this new law, we are sending a powerful message that the state does not tolerate racial profiling or other forms of discrimination," said Democratic state Sen. Christopher Belt, one of the bill's sponsors.

Another new Illinois law seeks to stifle a more modern form of distracted driving by prohibiting people from participating in video conferences or scanning social media while behind the wheel.

Guns will be regulated after a record year of shootings

Several states have new laws regulating guns and online activity.

A Minnesota law will allow authorities to ask courts for " extreme risk protection orders " to temporarily take guns from people deemed to be an imminent threat to others or themselves.

Minnesota will be at least the 20th state with such a red-flag law.

Colorado will become one of a dozen states banning so-called ghost guns . The new law prohibits firearms assembled at home or 3D-printed without serial numbers, practices that have allowed owners to evade background checks.

The US Supreme Court declined to block an Illinois law from taking effect Monday that bans high-powered semiautomatic rifles and high-capacity magazines. But a federal judge recently blocked a California law that would have prohibited carrying concealed guns in many public places.

Several state laws delve into acceptable online activities. A new Connecticut law requires online dating operators to adopt policies for handling harassment reports by or between users.

A North Carolina law will require pornographic website operators to confirm viewers are at least 18 years old by using a commercially available database. The law lets parents sue companies if their children were allowed to access the pornography.

Another new Illinois law will allow lawsuits from victims of deepfake pornography , in which videos or images are manipulated without their consent.

Conservatives are clamping down on LGBTQ+ rights

Over the past few years, there has been a major push by conservatives to restrict access to gender-affirming treatments for transgender minors. Bans are on the books in 22 states, including some where judges have paused enforcement as they consider challenges to the policies.

New bans on access for minors to puberty blockers, hormone therapy and surgery, which is rare, are scheduled to take effect Jan. 1 in Idaho , Louisiana, and West Virginia. The West Virginia law contains an exception: Teens could still access treatment with parental consent and a diagnosis of severe gender dysphoria from two doctors.

While many Republican-led legislatures have imposed restrictions, many Democrat-dominated states have responded with transgender protections. A law taking effect Monday in Hawaii requires new marriage certificates to be issued to people who request to change how their sex is listed. The state also is replacing gender-specific terms in state law; "mother" is being replaced with "birthing parent" and "father" with "non-birthing parent."

In Colorado, new buildings wholly or partly owned by government entities will be required to have on every floor where there are public restrooms at least one that does not specify the gender of the users.

The conservative push on LGBTQ+ policies also has come with efforts to keep certain books out of school or public libraries. An Indiana law taking effect makes it easier for parents and others to challenge books in school libraries. By contrast, a new Illinois law would block state funding for public libraries that ban or restrict books.

Minimum wage is on the rise, again

The new year brings various laws on taxes and wages — perennial issues for state governments.

More than 20 states will raise minimum wages for workers, further widening the gap between state requirements and the federal minimum, which has been static at $7.25 an hour since July 2009. In several states, the new minimum wage will more than double that rate.

Maryland's minimum wage will be set at $15 an hour. Most employees will earn $15.13 an hour in New Jersey. In Connecticut, $15.69 per hour. In New York City, $16 an hour, though it will be $15 in most of the rest of the state. California's statewide minimum wage also will rise to $16 per hour. And in Washington, the minimum rate will be $16.28.

Residents in some states will gain money by paying less taxes, continuing a three-year trend in which nearly every state has reduced, rebated, or suspended some broad-based tax.

In Kansas, the sales tax on groceries will drop from 4% to 2% in its next step toward eventual elimination, producing a savings of $208 annually for a family spending an average of $200 weekly on groceries.

About 1 million tax filers are expected to benefit from Connecticut's first income tax rate reduction since the mid-1990s. Lower-income workers and retirees also stand to benefit from expanded tax breaks.

Missouri also will reduce its income tax rate while expanding tax exemptions for Social Security benefits and military training pay. Businesses will be able to claim tax credits for hiring interns or apprentices.

Alabama will exempt overtime pay from the state's income tax, though that lasts only until June 2025 unless renewed by lawmakers.

Past state law introductions

In 2023, hundreds of laws took effect for the first time across states, many of which tackled important topics like minimum wage increases and the legalization of marijuana.

Twenty-seven states increased their minimum wage floors last year. California and Washington increased the minimum wage above $15, making them the highest minimum wage states in the country in 2023.

Maryland and Missouri legalized marijuana , while Colorado passed a law decriminalizing psychedelic mushrooms .

State laws are fairly standard, but obscure and strange ones can find their way into the books. For example, in Kentucky, public officials must make an oath that they've never fought a duel with deadly weapons, while fortune telling is illegal in Maryland. Read more about the weirdest laws in each state here .

gender assignment pdf

Watch: Supreme Court overturns Roe v. Wade: What does it mean for every US state?

gender assignment pdf

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Gender assignment and gender agreement: Evidence from pronominal gender languages

Profile image of Jenny Audring

2008, Morphology

In research on grammatical gender, assignment and agreement are the two central notions. Genders are defined as systems of agreement classes, and the assignment of nouns to genders is reflected in the agreement they consistently trigger on associated elements. Yet, gender assignment and gender agreement are often discussed quite separately. This paper investigates the possibility that gender agreement is not only an overt manifestation of gender assignment, but that properties of agreement systems can themselves constrain the assignment systems they express. The paper discusses typological and diachronic evidence for the fact that not every type of assignment system can be expressed in every type of agreement system.

Related Papers

Elena Anagnostopoulou

gender assignment pdf

Diana Forker

Person and gender are typical agreement features within the clause, and cross-linguistically they are frequently part of one and the same agreement system and even expressed through the same morphological exponents. Some theories even go so far as to claim that person and gender agreement on different targets, e.g. verbs and adjectives, are instances of one and the same agreement phenomenon. This paper discusses gender and person agreement in the Nakh-Daghestanian language Lak. It shows that the two agreement systems are formally and functionally completely separated from each other. Corpus data from Lak does not prove that gender agreement in this language is used to establish reference. Therefore it should rather be treated as concord, that is, similar to modifier agreement within the noun phrase.

Heronides Moura

In this paper we explore the influence that social relations beyond gender/sex have on the grammatical genders of some languages, and how these social relations add to the criteria for classifying nouns in different grammatical genders based on the principle of sexual distinction. We also show how certain types of social relations affect nouns referring to male and female humans differently, but behave in a reasonably homogeneous way in languages of different families and in distant geographical regions.

Lien De Vos

Studies on developments in pronominal gender agreement often focus on the semantic guidelines that are used to replace grammatical agreement with. However, pragmatic factors contribute to the competition between syntactic and semantic agreement as well. This paper analyzes two prominence factors contributing to the overall discourse salience of the antecedent noun and their impact on grammatical agreement in personal pronouns. First, the results will reveal that the antecedent’s referential status i.e. the assumed cognitive status the antecedent has in the mind of the addressee (cf. the Givenness Hierarchy) exerts influence on the use of gender-marked pronouns. Secondly, this study will indicate that antecedents in subject position trigger more syntactic agreement than antecedents with other grammatical functions.

Hans-Olav Enger , Tore Nesset

Peter Siemund, Prof. Dr.

This book investigates the use of English third person pronouns (he, she, it) across different varieties of English, where we frequently find he and she used for inanimate objects (the tree – he, the house – he, the bucket – he, but the water – it). It is the first book-length study of this subject. Varieties of English are discussed in the context of Germanic and Romance languages and dialects as well as a small sample of additional languages. The analysis is conducted within the framework set out by functional typology. The book's straightforward and illuminating generalization in terms of the well known hierarchy of individuation provides a systematic link between pronominal usage in Standard English and its varieties.

Marina Bontos

Brain and language

Niels O Schiller

Linda B Smith

Abstract Previous research has shown that speakers of gendered languages think about and categorize nouns in accordance with the noun's grammatical gender. Past studies have often used languages that do not mark grammatical gender as “genderless” control languages. We examine whether this characterization of non-gendered languages is in fact correct, by examining whether native speakers attribute gender to English nouns and adjectives.

Kwartalnik Neofilologiczny

Magda Stroinska

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    Gender assignment rules are thought of as having two functions. First, they should alleviate the burden of learning and memorizing the gender of each item in the noun vocabulary of a language. Second, they should enable the speaker of the language to allocate new nouns—loanwords and neologisms—to a gender.

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    (1a) is a semantic gender assignment rule, and very common in the world's languages. (1b) is a phonological gender assignment rule described for Quafar, an East Cushitic language (Corbett 1991, p. 51). (1c), in turn, is a morphological gender assignment rule operating in German. Gender assignment rules are thought of as having two functions.