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...
Topics
- 3-Hydroxysteroid Dehydrogenases
- Adolescent
- Adult
- Child
- Child, Preschool
- Disorders of Sex Development
- Female
- Homozygote
- Humans
- Male
- Mutation
- Pedigree
- Puberty, Precocious