Congenital adrenal hyperplasia. Molecular insights learned from patients.

Abstract excerpt

Congenital adrenal hyperplasia (CAH) results from enzymatic blocks in the synthesis of cortisol. All enzyme defects causing CAH are autosomal recessive traits. It is a relatively common disease, occurring in 1 in 5000 to 1 in 15,000 births in most populations. Since the isolation of the gene responsible for steroid 21-hydroxylase deficiency (involved in about 90% of the cases of CAH) in 1984, knowledge of the...

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