Article
Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment.
The Journal of steroid biochemistry and molecular biology - 1 Jan 2000
Carlson A D, Obeid J S, Kanellopoulou N, Wilson R C, New M I
Abstract excerpt
The diagnostic term congenital adrenal hyperplasia (CAH) applies to a family of inherited disorders of steroidogenesis caused by an abnormality in one of the five enzymatic steps necessary in the conversion of cholesterol to cortisol. The enzyme defects are translated as autosomal recessive traits, with the enzyme deficient in more than 90% of CAH cases being 21-hydroxylase. In the classical forms of CAH (simple...
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