Steroid 5a-reductase deficiency is a rare, male-limited autosomal recessive disorder caused
by mutation in the SRD5A2 gene resulting in a deficiency of dihydrotestosterone (DHT)
during fetal development. Here we report an affected 46, XY adolescent who was born with
incompletely virilized genitalia and was raised in the female gender. At 12 years of age, the
patient requested feminizing genital surgery. Surgery was withheld and psychiatric
counseling was instituted. At 14 years of age, the patient's gender identity and role appeared …