Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.

doi:10.1007/s12519-008-0016-8

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Article

Progress in molecular-genetic studies on congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.

World journal of pediatrics : WJP - 1 May 2008

Zhao Li-Qiang, Han Su, Tian Hao-Ming

Abstract excerpt

BACKGROUND: 11beta-hydroxylase deficiency is one of the main causes of congenital adrenal hyperplasia (CAH). It is caused by the mutation of the CYP11B1 gene that encodes the enzyme. Researches have shown that mutations of the CYP11B1 gene would result in activity decrease or inactivation of the...

Topics

Adrenal Hyperplasia, Congenital
Genes, Recessive
Humans
Molecular Biology
Mutation
Steroid 11-beta-Hydroxylase

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