46,XY disorder of sex development - adrenal insufficiency due to CYP11A1 deficiency
From BugSigDB
CLAH due to loss-of-function mutations in the CYP11A1 gene, resulting in decreased or absent activity of the enzyme P450scc, which leads to reduced conversion of cholesterol to pregnenolone, the first step in steroidogenesis.
- Aliases
- 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
- 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency syndrome
- adrenal insufficiency, congenital, with 46,XY SEX reversal, partial or complete
- cholesterol side-chain Cleavage deficiency
- Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency
- p450scc deficiency
- XY sex reversal - adrenal failure
- XY sex reversal-adrenal failure
- XY sex reversal-adrenal failure syndrome
