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, there are six other forms of CAH, due to mutations in the genes of other key enzymes involved in adrenal...

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