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Male pseudohermaphroditism resulting from a novel mutation in the human steroid 5 alpha-reductase type 2 gene (SRD5A2).

Abstract
The enzyme steroid 5 alpha-reductase, via NADPH, catalyses the conversion of testosterone to dihydrotestosterone, which is required for the embryonic differentiation of the external male genitalia and the prostate. An impairment of this reaction causes a form of male pseudohermaphroditism in which genetic males differentiate predominantly as phenotypic females. Molecular analysis of the 5 alpha-reductase type 2 gene in a patient with confirmed biochemical 5 alpha-reductase deficiency has resulted in the identification of a novel mutation, GAA to AAA, at codon 200. This mutation produces an amino acid change from glutamic acid to lysine, and may affect the ability of the enzyme to bind its co-factor.
AuthorsR Anwar, S G Gilbey, J P New, A F Markham
JournalMolecular pathology : MP (Mol Pathol) Vol. 50 Issue 1 Pg. 51-2 (Feb 1997) ISSN: 1366-8714 [Print] England
PMID9208814 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Topics
  • 3-Oxo-5-alpha-Steroid 4-Dehydrogenase (genetics)
  • Adult
  • Disorders of Sex Development (enzymology, genetics)
  • Humans
  • Male
  • Point Mutation
  • Polymerase Chain Reaction

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