17β-hydroxysteroid dehydrogenase 3 deficiency in women

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

doi:10.1210/jc.84.2.802

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 journal › Article › peer-review

50 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 language	English (US)
Pages (from-to)	802-804
Number of pages	3
Journal	Journal of Clinical Endocrinology and Metabolism
Volume	84
Issue number	2
DOIs	https://doi.org/10.1210/jc.84.2.802
State	Published - 1999

ASJC Scopus subject areas

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

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10.1210/jc.84.2.802

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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.",

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AU - Mendonca, Berenice B.

AU - Arnhold, Ivo J P

AU - Bloise, Walter

AU - Andersson, Steffan

AU - Russell, David W.

AU - Wilson, Jean D.

PY - 1999

Y1 - 1999

N2 - 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.

AB - 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.

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JO - Journal of Clinical Endocrinology and Metabolism

JF - Journal of Clinical Endocrinology and Metabolism

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ER -

17β-hydroxysteroid dehydrogenase 3 deficiency in women

Abstract

ASJC Scopus subject areas

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