[Clinical and molecular characteristics of patients with 46,XY DSD due to NR5A1 gene mutations].

Abstract excerpt

Steroidogenic factor 1 (SF1, NR5A1) is a nuclear receptor that regulates multiple genes involved in adrenal and gonadal development, steroidogenesis, and the reproductive axis. Human mutations in SF1 were initially found in patients with severe gonadal dysgenesis and primary adrenal failure. However, more recent case reports have suggested that heterozygous mutations in SF1 may also be found in patients with...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genetic Association Studies
• Share to Gonadal Dysgenesis, 46,XY