Article
Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females.
Journal of molecular endocrinology - 1 Feb 1994
Mendonça B B, Russell A J, Vasconcelos-Leite M, Arnhold I J, Bloise W, Wajchenberg B L, Nicolau W, Sutcliffe R G, Wallace A M
Abstract excerpt
A mutation (A82T) is described in the coding sequence of the gene for 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) type II that is associated with variable clinical consequences. Four homozygotes are described, all of which showed elevated levels of delta 5 steroids consistent with 3 beta-HSD deficiency. Two males from a consanguineous family were found to be homozygous for A82T and were affected with...
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