Article
Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum.
The Journal of clinical endocrinology and metabolism - 1 Aug 2006
al Kandari Hessa, Katsumata Noriyuki, Alexander Suzan, Rasoul Majedah Abdul
Abstract excerpt
CONTEXT: The cholesterol side-chain cleavage enzyme catalyzes the conversion of cholesterol to pregnanalone in the first step of steroidogenic pathways. Defective enzyme activity leads to the deficiency of all steroid hormones, including progesterone, which is essential to sustain term pregnancy. RESULTS: We report a homozygous point mutation in the CYP11A1 gene in a 46, XY phenotypic female born at term to...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.