Steroid 5α-reductase deficiency in a 65-year-old male pseudohermaphrodite: The natural history, ultrastructure of the testes, and evidence for inherited enzyme heterogeneity

J. Imperato-McGinley, R. E. Peterson, M. Leshin, Jim Griffin III, G. Cooper, S. Draghi, M. Berenyi, J. D. Wilson

Research output: Contribution to journalArticle

79 Scopus citations

Abstract

We report a 65-yr-old male pseudohermaphrodite with steroid 5a-reductase deficiency in whom there was no medical intervention before, during, or after puberty, enabling us to observe the natural history of this condition. The affected subject has an android build, with more facial and body hair than in previously described affected adults. Although the subject was raised as a girl, a male gender identity evolved with the events of puberty, but social factors have delayed the complete expression of a male gender role. Plasma levels of dihydrotestosterone and the in vivo conversion of radiolabeled testosterone to dihydrotestosterone were decreased. There was an elevated urinary etiocholanolone to androsterone ratio, typical of the syndrome. Characterization of 5a-reductase enzyme activity in cultured genital skin fibroblasts demonstrated a pattern of enzyme activity distinctly different from three previously described families with this condition. There was decreased enzyme affinity for testosterone and NADPH. Also, the stability of the enzyme to elevated temperature was not protected by NADPH, resulting in rapid disappearance of enzyme activity after inhibition of protein synthesis with cycloheximide. Electron microscopic evaluation of the testes was carried out.

Original languageEnglish (US)
Pages (from-to)15-22
Number of pages8
JournalJournal of Clinical Endocrinology and Metabolism
Volume50
Issue number1
DOIs
StatePublished - Jan 1980

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Biochemistry
  • Endocrinology
  • Clinical Biochemistry
  • Biochemistry, medical

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