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


METHODS
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.
Zhao
Li-Qiang
LQ
Department of Endocrinology, West China Hospital of Sichuan University, Chengdu 610000, China.
Han
Su
S
Tian
Hao-Ming
HM
D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000201:enzymology* / Q000453:epidemiology / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008967:Molecular Biology; D009154:Mutation; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics*
D013252:Steroid 11-beta-Hydroxylase