Article
A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient.
The Journal of clinical endocrinology and metabolism - 1 Mar 2009
Rubtsov Petr, Karmanov Maksim, Sverdlova Polina, Spirin Pavel, Tiulpakov Anatoly
Abstract excerpt
CONTEXT: The first and the rate-limiting step in the biosynthesis of hormones in all steroidogenic tissues, conversion of cholesterol to pregnenolone, is catalyzed by the cholesterol side-change cleavage cytochrome P450 (P450scc) encoded by a single gene, CYP11A1. To date, mutations in CYP11A1 gene have been reported in six patients, all of whom presented with adrenal insufficiency within the first 4 yr of life...
Topics
- Adrenal Insufficiency
- Child
- Cholesterol Side-Chain Cleavage Enzyme
- Gonadal Dysgenesis, 46,XY
- Homozygote
- Humans
- Hypospadias
- Male
- Mutation
- Phosphoproteins
- Steroidogenic Acute Regulatory Protein