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 enzyme in classical 11beta-hydroxylase deficiency.
Data sources: Articles on CAH and CYP11B1 gene mutation were retrieved from PubMed and MEDLINE published after 1991.
Results: The prevalence, pathophysiology, and molecular-genetic mechanisms were summarized.
Conclusions: The disease is caused by genetic mutations of CYP11B1, and types of the mutations are varied. In classical 11beta-hydroxylase deficiency, genetic mutations of CYP11B1 lead to activity decrease or loss; mutations in unclassical 11beta-hydroxylase deficiency are not definite. And the relationship between genotype and phenotype is not established.