Molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia: implications for genetic counseling.

doi:10.2165/00129785-200101020-00003

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Article

Molecular diagnosis of CYP21 mutations in congenital adrenal hyperplasia: implications for genetic counseling.

American journal of pharmacogenomics : genomics-related research in drug development and clinical practice - 1 Jan 2001

Speiser P W

Abstract excerpt

Congenital adrenal hyperplasia (CAH) is an inherited disorder of steroid biosynthesis most often attributable to mutations in CYP21 (also termed CYP21A2) encoding the active steroid 21-hydroxylase enzyme. This review focuses on clinical and genetic aspects of CAH, and updates the reader on curren...

Topics

Adrenal Hyperplasia, Congenital
Genetic Counseling
Genetic Testing
Genotype
Humans
Mutation
Phenotype
Steroid 21-Hydroxylase

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