PEDIATRIC UROLOGY

46,XY Intersex individuals: phenotypic and etiologic classification, knowledge of condition, and satisfaction with knowledge in adulthood
Migeon CJ, Wisniewski AB, Brown TR, Rock JA, Meyer-Bahlburg HF, Money J, Berkovitz GD
Department of Pediatrics, Johns Hopkins University, Maryland, USA
Pediatrics 2002; 110:e32

• 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 (50%) 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.
  
  
• Editorial Comment
  The management of patients with intersex is highly complex. Care should be multidisciplinary and should, at a minimum, include input from surgeons, endocrinologists, geneticists, psychologists and bioethics experts. Urgent decisions are made in the nursery that will have significant effects on patients for years to come. Most concerning is the fact that there are only limited long-term outcome data on these neonatal decisions. Some of the first outcome studies, flawed as they may be, are just being published at this time.
  Among the most important points that patient activists make is the accusation that intersex individuals and their families are poorly informed about their medical conditions and therefore can not make optimal decisions regarding their own healthcare. This study reviews adults with intersex due to under-masculinization despite a 46, XY karyotype. Using questionnaires and semi-structured interviews the authors assessed patient knowledge of their history and satisfaction with their knowledge.
  Although not surprising, it was still disturbing to find that only 50% of patients (both male and female) were informed adequately about their condition. Interestingly, fewer women were informed about their condition if they had Complete Androgen Insensitivity (36%) than men with micropenis (80%). On the other hand, women were more satisfied than men (66% vs. 38%) with their state of knowledge.
  The importance of neonatal decisions in these patients is considerable and there are still too few studies of outcome to assess how we are doing. Perhaps more important, factors that could improve outcome have not been studied enough. Studies like the one summarized above are to be encouraged strongly.

Dr. Barry A. Kogan
Chief and Professor of Urology and Pediatrics
Albany Medical College
Albany, New York, USA