46,XY Intersex Individuals: Phenotypic and
Etiologic Classification, Knowledge of Condition, and Satisfaction With
Knowledge in Adulthood
PEDIATRICS
Vol. 110 No. 3 September 2002, pp. e32
Abstract Full Text PDF
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.
Key Words:
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 • 17ß-HSD-3,
17ß-hydroxysteroid dehydrogenase-3 • PGD, partial gonadal dysgenesis •
MIS, müllerian inhibiting substance
* Department of Pediatrics,
Division of Pediatric Endocrinology, Johns Hopkins University School of
Medicine, Baltimore, Maryland
Department of Biochemistry and Molecular Biology, Johns Hopkins Bloomberg
School of Public Health, Baltimore, Maryland
Department of
Gynecology and Obstetrics, Emory University School of Medicine, Atlanta,
Georgia
|| Department of Psychiatry, Division of Child Psychiatry and
Program of Developmental Psychoendocrinology, Columbia University College of
Physicians and Surgeons and New York State Psychiatric Institute, New York,
New York
¶ Department of Medical Psychology and Pediatrics, Johns Hopkins
University School of Medicine, Baltimore, Maryland
# Department of Pediatrics, Division of Pediatric Endocrinology,
University of Miami School of Medicine, Miami, Florida
Citation: Claude J. Migeon, MD*,
Amy B. Wisniewski, PhD*, Terry R. Brown, PhD*,,
John A. Rock, MD,
Heino F. L. Meyer-Bahlburg, Dr. rer. nat.||, John
Money, PhD¶ and Gary D. Berkovitz, MD#
