• PMID: 8185809
• Gene Name: HSD3B2
• Condition: Male pseudohermaphroditism, premature pubarche
• Association: Two males from a consanguineous family were found to be homozygous for A82T and were affected with pseudohermaphroditism. In the same family a female was found to be homozygous for A82T, but was clinically normal and had no history of premature pubarche o
• Mutation: A82T
• Sex: Male, Female
• Infertility type: Male infertility, Female infertility
• Other associated phenotypes: Male pseudohermaphroditism, premature pubarche

Mutation in 3 beta-hydroxysteroid dehydrogenase type II associated with pseudohermaphroditism in males and premature pubarche or cryptic expression in females

Mendonça BB, Russell AJ, Vasconcelos-Leite M, Arnhold IJ, Bloise W, Wajchenberg BL, Nicolau W, Sutcliffe RG, Wallace AM.

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 pseudohermaphroditism. They differed in their degree of mild salt loss. In the same family a female was found to be homozygous for A82T, but was clinically normal and had no history of premature pubarche or of abnormal menstrual cycles. However, in an apparently unrelated family, the A82T mutation was found in a female affected with premature pubarche. This is the first report of a proven mutation in 3 beta-HSD type II associated with premature pubarche. FAU - Mendonça, B B AU - Mendonça BB AD - Unidade de Gonadas e Intersexo, Faculdade de Medicina Hospital das Clinicas de Sao Paulo, Brazil. FAU - Russell, A J AU - Russell AJ FAU - Vasconcelos-Leite, M AU - Vasconcelos-Leite M FAU - Arnhold, I J AU - Arnhold IJ FAU - Bloise, W AU - Bloise W FAU - Wajchenberg, B L AU - Wajchenberg BL FAU - Nicolau, W AU - Nicolau W FAU - Sutcliffe, R G AU - Sutcliffe RG