46,XY Intersex Individuals: Phenotypic and Etiologic Classification, Knowledge of Condition, and Satisfaction With Knowledge in Adulthood

Abstract

ABSTRACT. Objectives. The objective of this study was to identify and study adults who have a 46,XY karyotype and presented as infants or children with variable degrees of undermasculinization of their genitalia (female genitalia, ambiguous genitalia, or micropenis). Participants' knowledge of their condition, satisfaction with their knowledge, and desire for additional education about their intersex condition were assessed.Methods. Participants were classified according to the cause underlying their intersex condition based on review of medical and surgical records. Knowledge of medical condition, satisfaction with that knowledge, and desire for additional education were assessed with a written questionnaire and a semistructured interview.Results. Patients were ineligible for recruitment because of death (9%), because of developmental delay (12%), or because they were not located (27%). Among the 96 eligible patients, 78% participated. Approximately half of the men (53%) and women (54%) exhibited a good understanding of their history. Fewer women who have a 46,XY chromosome complement and were born with female genitalia were informed about their intersex condition (36% with complete androgen insensitivity syndrome) than were women who were born with masculinized genitalia such as micropenis (80%) or ambiguous genitalia (72%). More women (66%) than men (38%) were satisfied with their knowledge of their medical and surgical history.Conclusions. Almost half of the patients, reared male or female, were neither well informed about their medical and surgical history nor satisfied with their knowledge. Pediatrics 2002;110(3). URL: http://www. pediatrics.org/cgi/content/full/110/3/e32; intersex, hermaphrodite, gender, androgen insensitivity, gonadal dysgenesis, micropenis, patient satisfaction, patient knowledge.ABBREVIATIONS. CAIS, complete androgen insensitivity syndrome; CGD, complete gonadal dysgenesis; LH, luteinizing hormone; FSH, follicle-stimulating hormone; AR, androgen receptor; PAIS, partial androgen insensitivity syndrome; 17␤-HSD-3, 17␤-hydroxysteroid dehydrogenase-3; PGD, partial gonadal dysgenesis; MIS, mü llerian inhibiting substance.

Gender Dysphoria and Gender Change in Androgen Insensitivity or Micropenis

“…For PAIS, the ideal selection criterion would also be documentation of a defective androgen receptor gene, which constitutes the "gold standard" for the diagnosis (Migeon et al, 2002a). However, it is generally well known that it is difficult to demonstrate the presence of such a mutation in many cases.…”

Ambiguous Genitalia With Perineoscrotal Hypospadias in 46,XY Individuals: Long-Term Medical, Surgical, and Psychosexual Outcome

“…Among these, 54 presented with ambiguous genitalia, including perineoscrotal hypospadias, and thus were eligible for study recruitment. 2 Thirty-nine individuals (72%) provided informed consent and completed the study. Participants ranged in age from early 20s to early 50s (mean age: 34 years).…”

“…1 We previously described a population of 46,XY subjects who presented to the Pediatric Endocrinology Clinic of Johns Hopkins Hospital with varying degrees of undermasculinized genitalia. 2 In this population, the most difficult group to treat in terms of gender assignment is that of individuals who were born with ambiguous genitalia that includes a small phallus and perineoscrotal hypospadias. 3 For this group of patients, there is a lack of agreement about optimal sex assignment (in terms of the child developing a gender identity that is congruent with his or her rearing) and types of genital surgery associated with the best cosmetic and functional outcome.…”

Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys

“…Some of these medical conditions are well known and studied as congenital adrenal hyperplasia (1) or incomplete androgen insensitivity syndrome (2,3). Conversely, 45,X/46,XY mixed gonadal dysgenesis (MGD) is less characterized.…”