Medical and psychosexual outcome in women affected by complete gonadal dysgenesis.

Background: Prenatal exposure to testicular hormones influences the development of brain structures and behavior in many non-human mammalian species. Less understood is the role of possessing a Y chromosome, independent of testicular hormones, on psychosexual differentiation.
Hypothesis: Phenotypic women affected by complete gonadal dysgenesis possess a 46,XY chromosome complement and streak gonads. This population is suitable to test the influence of an absence of androgens and Müllerian inhibiting substance on psychosexual development in genetic males.
Patients: Three 46,XY women diagnosed with complete gonadal dysgenesis participated.
Methods: Psychosexual development, medical outcome and knowledge of medical condition were assessed with a written questionnaire and a physical examination.
Results: All participants were healthy, compliant with their hormone therapy, and exhibited female-typical psychosexual development. However, participants were poorly informed about their condition and the fertility treatment options available to them.
Conclusions: These data indicate no obvious role for genes on the Y chromosome, outside of its pseudoautosomal region and SRY, on psychosexual differentiation in genetic males who do not produce testicular hormones. Greater efforts need to be made to educate affected women about their pregnancy options.