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J Pediatr Endocrinol Metab. 2005 Apr;18(4):339-45.

Choice of gender in 5alpha-reductase deficiency: a moving target.

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  • 1Division of Pediatric Endocrinology, Department of Pediatrics, Penn State College of Medicine, The Milton S Hershey Medical Center, Hershey, PA 17033-0850, USA.


Steroid 5alpha-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 to be in transition from a female to an increasingly male gender. This case demonstrates that in patients with disorders such as 5alpha-reductase deficiency, in which significant prenatal androgen exposures are combined with postnatal virilization, adult gender identity and gender role may be a dynamic process that is not complete until well after adolescence.

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