Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency.

doi:10.1017/S1462399407000300

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Article

Congenital adrenal hyperplasia: focus on the molecular basis of 21-hydroxylase deficiency.

Expert reviews in molecular medicine - 30 Apr 2007

Gonçalves João, Friães Ana, Moura Luís

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by defects in one of several steroidogenic enzymes involved in the synthesis of cortisol from cholesterol in the adrenal glands. More than 90% of cases are caused by 21-hydroxylase deficiency, and the severity of the r...

Topics

Adrenal Hyperplasia, Congenital
Gene Components
Humans
Mutation
Steroid 21-Hydroxylase

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