Steroid 5α-reductase 2 deficiency

David W. Russell, Jean D Wilson

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Loss-of-function mutations in the steroid 5α-reductase 2 gene (SRD5A2) cause a disorder of male sexual differentiation in which the prostate does not form and external genitalia develop along female lines. Failure to synthesize dihydrotestosterone in fetal tissues that give rise to the male urogenital tract underlies the phenotype that characterizes this disorder. Studies of the SRD5A2 gene and its encoded enzyme at the molecular, biochemical, and endocrinological levels established the crucial role of dihydrotestosterone in formation of the male phenotype and in many other androgen actions and led to the development of drugs for the treatment of prostatic disease.

Original languageEnglish (US)
Title of host publicationGenetic Steroid Disorders
Subtitle of host publicationSecond Edition
PublisherElsevier
Pages309-325
Number of pages17
ISBN (Electronic)9780128214244
ISBN (Print)9780128214251
DOIs
StatePublished - Jan 1 2023

Keywords

  • Disorders of sexual differentiation (DSD)
  • ambiguous genitalia
  • androgen action
  • dihydrotestosterone
  • gender identity/gender role behavior

ASJC Scopus subject areas

  • General Biochemistry, Genetics and Molecular Biology

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