Initial Gender Assignment Research Articles

One hundred twelve cases of 46, XY DSD patients after initial gender assignment: a short-term survey of gender role and gender dysphoria

Background46, XY disorders of sex development (46, XY DSD) are congenital disorders with 46, XY chromosomal karyotype but inconsistent gonadal/phenotypic sex. One of the biggest concerns for parents and clinicians is the gender assignment. However, there is no standard uniform of care nor consensus at present. We sought to evaluate the current treatment's rationality and provide a reference basis for the gender reassignment in 46, XY DSD patients with a specific diagnosis.MethodsWe conducted a cross-sectional survey of gender role with the Pre-school Activities Inventory (PSAI), the Children's Sex Role Inventory (CSRI) in 46, XY DSD patients and set up control groups comparison. Psychiatrist assessed gender dysphoria in patients ≥ 8-year-old with the criteria of diagnostic and statistical manual of mental disorders, 5th edition (DSM-5).ResultsA total of 112 responders of 136 patients participated in this study (82.4%, aged 2–17.8 years, median age: 4-year-old). The follow-up period was from 6 months to 10 years (median: 2 years). Twenty-five females were reassigned to the male gender after a specific diagnosis (16/25 (64%) in 5 alfa-reductase-2 deficiency (5α-RD2), 5/25 (20%) in partial androgen insensitivity syndrome (PAIS), 4/25 (16%) in NR5A1gene mutation). Male gender assignment increased from 55.3 (n = 62) to 77.7% (n = 87). The median PSAI score was similar to the control males in 5α-RD2, PAIS, and NR5A1 gene mutation groups (p > 0.05); while identical to the control females in complete androgen insensitivity syndrome (CAIS) and CYP17A1 gene mutation groups (p > 0.05). PSAI score of children raised as male was higher than those of CAIS and CYP17A1 groups raised as female (p < 0.05). CSRI scale showed no statistical differences in the consistency of gender roles and reassigned gender between 46, XY DSD patients and control groups (p > 0.05). None of the patients over 8-year-old (n = 44) had gender dysphoria.ConclusionThe reassigned gender in 46, XY DSD patients is consistent with their gender role during early childhood. None of them had gender dysphoria. The molecular diagnosis, gonadal function, and the gender reassignment are congruent within our Chinese cohort. Long-term follow-up and more evaluation are still required.

Recalled and current gender role behavior, gender identity and sexual orientation in adults with Disorders/Differences of Sex Development

The magnitude of sex differences in human brain and behavior and the respective contributions of biology versus socialization remain a topic of ongoing study in science. The preponderance of evidence attests to the notion that sexual differentiation processes are at least partially hormonally mediated, with high levels of prenatal androgens facilitating male-typed and inhibiting female-typed behaviors. In individuals with Disorders/Differences of Sex Development (DSD), hormonal profiles or sensitivities have been altered due to genetic influences, presumably affecting gender(ed) activity interests as well as gender identity development in a minority of the affected population. While continued postnatal androgen exposure in a number of DSD syndromes has been associated with higher rates of gender dysphoria and gender change, the role of a number of mediating and moderating factors, such as initial gender assignment, syndrome severity and clinical management remains largely unclear. Limited investigations of the associations between these identified influences and gendered development outcomes impede optimization of clinical care. Participants with DSD (n=123), recruited in the context of a Dutch multi-center follow-up audit, were divided in subgroups reflecting prenatal androgen exposure, genital appearance at birth and gender of rearing. Recalled childhood play and playmate preferences, gender identity and sexual orientation were measured with questionnaires and semi-structured interviews. Data were compared to those of control male (n=46) and female participants (n=79). The findings support that (a) prenatal androgen exposure has large effects on (gendered) activity interests, but to a much lesser extent on sexual orientation and that (b) initial gender of rearing remains a better predictor of gender identity contentedness than prenatal androgen exposure, beyond syndrome severity and medical treatment influences. Nonetheless, 3.3% of individuals with DSD in our sample self-reported gender dysphoria from an early age and changed gender, which further underlines the need for thorough long- term follow-up and specific clinical support.

Gender development and sexuality in disorders of sex development.

Understanding psychological development in individuals with disorders of sex development (DSD) is important for optimizing their clinical care and for identifying paths to competence and health in all individuals. In this paper, we focus on psychological outcomes likely to be influenced by processes of physical sexual differentiation that may be atypical in DSD, particularly characteristics related to being male or female (those that show sex differences in the general population, gender identity, and sexuality). We review evidence suggesting that (a) early androgens facilitate several aspects of male-typed behavior, with large effects on activity interests, and moderate effects on some social and personal behaviors (including sexual orientation) and spatial ability; (b) gender dysphoria and gender change occur more frequently in individuals with DSD than in the general population, with rates varying in relation to syndrome, initial gender assignment, and medical treatment; and (c) sexual behavior may be affected by DSD through several paths related to the condition and treatment, including reduced fertility, physical problems associated with genital ambiguity, social stigmatization, and hormonal variations. We also consider limitations to current work and challenges to studying gender and sexuality in DSD. We conclude with suggestions for a research agenda and a proposed research framework.

529 MANAGEMENT OF CHILDREN WITH AMBIGUOUS GENITALIA USING A “DISORDERS OF SEX DEVELOPMENT (DSD) TEAM”

You have accessJournal of UrologyPediatrics: Congenital Anomalies - Lower Urinary Tract & Genitalia1 Apr 2010529 MANAGEMENT OF CHILDREN WITH AMBIGUOUS GENITALIA USING A “DISORDERS OF SEX DEVELOPMENT (DSD) TEAM” Saul Greenfield, Tom Mazur, Glinianski Michal, and Teresa Quattrin Saul GreenfieldSaul Greenfield More articles by this author , Tom MazurTom Mazur More articles by this author , Glinianski MichalGlinianski Michal More articles by this author , and Teresa QuattrinTeresa Quattrin More articles by this author View All Author Informationhttps://doi.org/10.1016/j.juro.2010.02.728AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookTwitterLinked InEmail INTRODUCTION AND OBJECTIVES Controversy continues regarding the proper management of children born with DSD. Since 1985, a multidisciplinary “DSD Team” has been utilized to manage these children. Urology, endocrinology and psychology records were reviewed regarding surgical procedures, hormonal treatment and gender development. METHODS The combined data bases from the urology, endocrinology and psychology departments were reviewed from 1985 to 2008. Surgical, medical and psychological data were tabulated. RESULTS 14 patients were identified: 3-congenital adrenal hyperplasia (CAH), 4-true hermaphrodites (TH), 4-mixed gonadal dysgenesis (MGD), 1-androgen insensitivity syndrome (AIS), 1 with severe hypospadias, 1 with 46Xp+Y (sex reversal). Mean follow up was 12.5 years (4 to 25 yrs). 8 were reared as girls, 6 as boys. All 3 CAH were gender assigned as girls&em;1 has undergone clitoral reduction and 1 has had vaginoplasty. All are well managed on medical therapy. Of the 4 MGD patients, all were gender assigned as boys and underwent hypospadias repair and removal of mullerian ductal (MD) structures and ovarian issue. 3 are on androgen supplementation. Three of the four with TH were assigned and reared as boys and underwent hypospadias repair with removal of inappropriate gonadal and MD structures. The one assigned and reared female is on estrogen and undergoing vaginal dilatation. The 1 with AIS was reared female. The 1 with sex reversal (46Xp+Y) was assigned female. The 1 severe hypospadias patient has undergone repair and is reared male. Current psychosexual assessment indicates gender identity concordant with initial gender assignment in all 14. Furthermore, no gender dysphoria was identified in any patient. Sexual orientation is heterosexual in 6 (3M, 3F) and 4 are sexually active (2M, 2F). The remaining 8 were too young to assess sexual orientation. CONCLUSIONS Using a team approach, appropriate gender assignment can be made shortly after diagnosis, as suggested by the current evidence of gender development in these individuals. Ongoing medical, surgical and psychological interventions will permit the team to continually assess psychosexual development as well as quality of life for both patient and family. Buffalo, NY© 2010 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 183Issue 4SApril 2010Page: e209 Advertisement Copyright & Permissions© 2010 by American Urological Association Education and Research, Inc.MetricsAuthor Information Saul Greenfield More articles by this author Tom Mazur More articles by this author Glinianski Michal More articles by this author Teresa Quattrin More articles by this author Expand All Advertisement Advertisement PDF DownloadLoading ...

LONG-TERM CLINICAL AND SURGICAL OUTCOME OF SEVERELY UNDERVIRILIZED MALES — IMPLICATIONS FOR INITIAL MANAGEMENT

Purpose Gender assignment in children with ambiguous genitalia represents an extremely difficult task since there is still a lack of agreement about optimal management. Those born with a small phallus and perineoscrotal hypospadias are difficult to treat and to counsel correctly. Herein, we present a homogenous group of undervirilized males with their long-term surgical and clinical outcome as well as their gender identity. Material and methods 21 patients (all 46 XY) who underwent genitoplasty for ambiguous genitalia in infancy or early childhood were retrospectively identified from the hospital's database. Mean follow-up after corrective surgery was 15.35 years. Initially all children presented with ambiguous genitalia (perineoscrotal hypospadias and cryptorchidism). Either female gender reassignment including gonadectomy, genital reconstruction and secondary vaginoplasty or orchidopexy and hypospadias repair were performed. All patients exhibited disturbances within the androgen receptor pathway. Gender identity and subjective satisfaction with genital surgery were individually assessed. Results 13 patients had female gender reassignment whereas 8 were raised as males. Gender identity and phenotypic sex were identical in all but one patient (28 y) who had a male gender identity despite a female sex of rearing. Genito-sexual function and cosmetic outcome as well as gender acceptance were reported to be satisfactory in 20 patients (95.2%). Conclusions Retrospectively, initial gender assignment was considered appropriate by the overwhelming majority of our patients reflected by a consistently high gender acceptance. Corrective surgery for ambiguous genitalia yielded durable functional and cosmetic results. Regarding the relative success of this therapeutic strategy we suggest that the sex of rearing should be decided based upon thorough information about the child's medical and surgical options as well as about all available outcome data.

Novel Missense Mutation in the P-Box of Androgen Receptor in a Patient with Androgen Insensitivity Syndrome

Mutations in the X-linked AR gene cause androgen insensitivity syndrome (AIS) by impairing androgen-dependent male sex differentiation to various degree. Here we describe a partial AIS patient with confliction with the assigned female sex. Although the patient was noticed to have ambiguous genitalia at birth, the patient was reared as a female with no medical intervention. At the age of 31 years, the patient visited us because the patient was dissatisfied with the assigned female sex. The patient was treated with systemic testosterone and topical dihydrotestosterone, but the external genitalia responded only minimally to the treatment. The genetic analysis revealed a novel missense K580R mutation in the P-box of the DNA-binding domain of androgen receptor, which was the first missense mutation shared by AIS and prostate cancer. Although the best predictor of the adult gender identity is documented to be the initial gender assignment in patients with partial AIS as well as those with complete AIS, deciding gender assignment for infants with partial AIS is still challenging.

Long-Term Clinical and Surgical Outcome of Severely Undervirilized Males - Implications for Initial Management

Purpose Gender assignment in children with ambiguous genitalia represents an extremely difficult task since there is still a lack of agreement about optimal management. Those born with a small phallus and perineoscrotal hypospadias are difficult to treat and to counsel correctly. Herein, we present a homogenous group of undervirilized males with their long-term surgical and clinical outcome as well as their gender identity. Material and methods 21 patients (all 46 XY) who underwent genitoplasty for ambiguous genitalia in infancy or early childhood were retrospectively identified from the hospital's database. Mean follow-up after corrective surgery was 15.35 years. Initially all children presented with ambiguous genitalia (perineoscrotal hypospadias and cryptorchidism). Either female gender reassignment including gonadectomy, genital reconstruction and secondary vaginoplasty or orchidopexy and hypospadias repair were performed. All patients exhibited disturbances within the androgen receptor pathway. Gender identity and subjective satisfaction with genital surgery were individually assessed. Results 13 patients had female gender reassignment whereas 8 were raised as males. Gender identity and phenotypic sex were identical in all but one patient (28 y) who had a male gender identity despite a female sex of rearing. Genito-sexual function and cosmetic outcome as well as gender acceptance were reported to be satisfactory in 20 patients (95.2%). Conclusions Retrospectively, initial gender assignment was considered appropriate by the overwhelming majority of our patients reflected by a consistently high gender acceptance. Corrective surgery for ambiguous genitalia yielded durable functional and cosmetic results. Regarding the relative success of this therapeutic strategy we suggest that the sex of rearing should be decided based upon thorough information about the child's medical and surgical options as well as about all available outcome data.

Gender Dysphoria and Gender Change in Androgen Insensitivity or Micropenis

This review article answers three questions relevant to the medical management and care of individuals born with complete androgen insensitivity syndrome (CAIS), partial androgen insensitivity syndrome (PAIS), or a micropenis: (1) Do any of these individuals reassign themselves from their initial gender assignment? (2) Do more reassign than the ones who do not? (3) Is there evidence of gender dysphoria in those who do not self-initiate reassignment? Reviewed were all articles on CAIS, PAIS, and micropenis cited in K. J. Zucker (1999) plus articles published through 2004. There were no documented cases of gender change in individuals with CAIS (N= 156 females) or micropenis (N= 89: 79 males, 10 females). Nine (9.1%) out of 99 individuals with PAIS changed gender. Thus, self-initiated gender reassignment was rare. Gender dysphoria also appears to be a rare occurrence. The best predictor of adult gender identity in CAIS, PAIS, and micropenis is initial gender assignment.