46,XY intersex individuals: phenotypic and etiologic classification, knowledge of condition, and satisfaction with knowledge in adulthood.
OBJECTIVE
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.
Department of Pediatrics, Division of Pediatric Endocrinology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. cmigeon@welchlink.welch.jhu.edu
Claude J
CJ
Migeon
Amy B
AB
Wisniewski
Terry R
TR
Brown
John A
JA
Rock
Heino F L
HF
Meyer-Bahlburg
John
J
Money
Gary D
GD
Berkovitz
D000223:Adaptation, Psychological; D000328:Adult; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000209:etiology / Q000503:physiopathology / Q000523:psychology* / Q000628:therapy; D006801:Humans; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D011606:Psychosexual Development