Article
17Beta-hydroxysteroid dehydrogenase 3 deficiency in women.
The Journal of clinical endocrinology and metabolism - 1 Feb 1999
Mendonca B B, Arnhold I J, Bloise W, Andersson S, Russell D W, Wilson J D
Abstract excerpt
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...
Topics
- 17-Hydroxysteroid Dehydrogenases
- Adult
- Disorders of Sex Development
- Female
- Heterozygote
- Homozygote
- Humans
- Infertility, Female
- Isoenzymes
- Male
- Middle Aged