Choice of gender in 5α-reductase deficiency: A moving target

Christopher P. Houk, D. Damiani, Peter A. Lee

Research output: Contribution to journalArticle

24 Scopus citations

Abstract

Steroid 5α-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 5α-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.

Original languageEnglish (US)
Pages (from-to)339-345
Number of pages7
JournalJournal of Pediatric Endocrinology and Metabolism
Volume18
Issue number4
DOIs
Publication statusPublished - Jan 1 2005
Externally publishedYes

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Keywords

  • 5α-Reductase deficiency
  • Gender identity
  • Intersex

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Endocrinology, Diabetes and Metabolism
  • Endocrinology

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