Article
Congenital adrenal hyperplasia: 21-hydroxylase deficiency in the newborn and during infancy.
Seminars in reproductive medicine - 1 Aug 2002
Hughes I A
Abstract excerpt
Congenital adrenal hyperplasia is a family of monogenic autosomal recessive disorders of steroidogenesis with protean clinical manifestations. The commonest form, 21-hydroxylase deficiency, is the most frequent cause of ambiguous genitalia in the newborn. The molecular features associated with abnormalities in the CYP21 gene are well characterized in relation to phenotypic manifestations. The concordance between...
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