17Beta-hydroxysteroid dehydrogenase 3 deficiency in women
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Updated: Oct 24, 2026

A Hyperandrogenic Mouse Model to Study Polycystic Ovary Syndrome
Published on: October 2, 2018
B B Mendonca1, I J Arnhold, W Bloise
1Division of Endocrinology, Hospital das Clinicas of The University of Sao Paulo School of Medicine, Brazil.
Abstract:
In genetic males, mutation of the 17beta-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 heterozygotes for the same mutations as their affected brothers. Our findings confirm the concept that women with such mutations are asymptomatic.
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