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- Title
17b-Hydroxysteroid Dehydrogenase 3 Deficiency in Women.
- Authors
MENDONCA, BERENICE B.; ARNHOLD, IVO J. P.; BLOISE, WALTER; ANDERSSON, STEFFAN; RUSSELL, DAVID W.; WILSON, JEAN D.
- Abstract
In genetic males, mutation of the 17b-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.
- Publication
Journal of Clinical Endocrinology & Metabolism, 1999, Vol 84, Issue 2, p802
- ISSN
0021-972X
- Publication type
Article
- DOI
10.1210/jcem.84.2.5477