Article
Steroid 5α-reductase 2 deficiency.
The Journal of steroid biochemistry and molecular biology - 1 Oct 2016
Mendonca Berenice B, Batista Rafael Loch, Domenice Sorahia, Costa Elaine M F, Arnhold Ivo J P, Russell David W, Wilson Jean D
Abstract excerpt
Dihydrotestosterone is a potent androgen metabolite formed from testosterone by action of 5α-reductase isoenzymes. Mutations in the type 2 isoenzyme cause a disorder of 46,XY sex development, termed 5α-reductase type 2 deficiency and that was described forty years ago. Many mutations in the encoding gene have been reported in different ethnic groups. In affected 46,XY individuals, female external genitalia are...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.