17β-Hydroxysteroid Dehydrogenase 3 Deficiency in Women1 | Zendy

Berenice B. Mendonça | Zendy; Ivo J.P. Arnhold | Zendy; W Bloise | Zendy; S Andersson | Zendy; David W. Russell | Zendy; Jean D. Wilson | Zendy

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17β-Hydroxysteroid Dehydrogenase 3 Deficiency in Women1

Author(s) -

Berenice B. Mendonça,

Ivo J.P. Arnhold,

W Bloise,

S Andersson,

David W. Russell,

Jean D. Wilson

Publication year - 1999

Publication title -

the journal of clinical endocrinology and metabolism

Language(s) - Uncategorized

Resource type - Journals

SCImago Journal Rank - 2.206

H-Index - 353

eISSN - 1945-7197

pISSN - 0021-972X

DOI - 10.1210/jcem.84.2.5477

Subject(s) - male pseudohermaphroditism , heterozygote advantage , asymptomatic , hydroxysteroid dehydrogenase , dehydrogenase , mutation , compound heterozygosity , testosterone (patch) , gene , endocrinology , medicine , biology , genetics , allele , enzyme , biochemistry

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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