17 beta-hydroxysteroid dehydrogenase 3 deficiency in women

In genetic males, mutation of the 17 beta-hydroxysteroid dehydrogenase 3 (1 7HSD3)gene that is normally expressed in the testes impairs testosterone fo rmation and causes development of male pseudohermaphroditism. We have ascer tained seven women who are sisters of men with 17HSD3 deficiency and who ar e either homozygotes or compound heterozytotes for the same mutations as th eir affected brothers. Our findings confirm the concept that women with suc h mutations are asymptomatic.