Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.

Abstract excerpt

Congenital adrenal hyperplasia (CAH) comprises a group of autosomal recessive disorders caused by numerous variants in several genes encoding enzymes involved in adrenal steroidogenesis. While 21-hydroxylase deficit is the most common and well-known form of CAH, accounting for 90%-95% of cases, t...

Topics

• Humans
• Adrenal Hyperplasia, Congenital
• Mutation
• Disease Management
• Steroidogenic Acute Regulatory Protein