Gender Self-Reassignment in an XY Adolescent Female Born With Ambiguous Genitalia

The management of patients with ambiguous genitalia has long been governed by several principles.^1–3 First, to avoid stigmatization of the patient, gender assignment should be made as quickly as possible, preferably before hospital discharge.^{2 ,3} Second, a primary consideration in assigning gender should be the prognosis for future sexual function and fertility.^{2 ,3} Given that the prognosis is known for some causes of intersexuality, the likelihood of fertility can be deduced by diagnosis of the underlying condition. Third, gender assignment has been strongly influenced by John Money and co-workers' proposal^4–8 that gender identity at birth is highly malleable. Money emphasized the importance of early and unambiguous gender assignment.

Current pediatric endocrinology textbooks continue to include phallus size among the important considerations in assigning gender in the newborn with ambiguous genitalia. Phallus size <1.5 cm at term⁹ is considered inadequate for development of a functional penis (ability to have intercourse and to urinate standing up). Given that reconstructive surgery aimed at achieving functional female genitalia is considered the more effective alternative, XY intersexual patients with microphallus and testes are often assigned female gender. According to Money's approach, unambiguous presentation of gender identity to the patient's parents and, later, to the patient would ensure the likelihood of a good outcome. However, there have been few reports of long-term follow-up on the stability of gender reassignment for XY children born with functional testes and androgen receptors.

Recently Diamond and Sigmundson¹⁰ reported on the long-term outcome in the case of John/Joan. This case of a normal male infant whose penis was ablated during circumcision, and who was subsequently raised female, provided early support for Money's ideas. However, the patient ultimately reassigned his own gender during adolescence, leading Diamond and Sigmundson to propose alternative principles for the management of …