Congenital adrenal hyperplasia: phenotype and genotype.

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is a monogenic autosomal recessive condition manifested as a heterogeneous phenotype and caused by mutations in the CYP21 gene on chromosome 6p21.3. More than 50 mutations have been described, of which about 10 types account for >90% of affected alleles. Concordance between genotype and phenotype is sufficiently robust to be of significant value in the diagnosis and management...

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