17β-hydroxysteroid dehydrogenase 3 deficiency in women

Berenice B. Mendonca, Ivo J P Arnhold, Walter Bloise, Steffan Andersson, David W. Russell, Jean D. Wilson

Research output: Contribution to journalArticlepeer-review

43 Scopus citations

Abstract

In genetic males, mutation of the 17β-hydroxysteroid dehydrogenase 3 (17HSD3)gene that is normally expressed in the testes impairs testosterone formation and causes development of male pseudohermaphroditism. We have ascertained seven women who are sisters of men with 17HSD3 deficiency and who are either homozygotes or compound heterozytotes for the same mutations as their affected brothers. Our findings confirm the concept that women with such mutations are asymptomatic.

Original languageEnglish (US)
Pages (from-to)802-804
Number of pages3
JournalJournal of Clinical Endocrinology and Metabolism
Volume84
Issue number2
DOIs
StatePublished - 1999

ASJC Scopus subject areas

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

Fingerprint Dive into the research topics of '17β-hydroxysteroid dehydrogenase 3 deficiency in women'. Together they form a unique fingerprint.

Cite this