Progress in molecular-genetic researches on congenital adrenal hyperplasia—11?-hydroxylase deficiency / 中华内分泌代谢杂志

ABSTRACT

11?-hydroxylase deficiency is one of the main causes of congenital adrenal hyperplasia (CAH),which is caused by the mutation of CYP11B1 gene that encodes the enzyme.Researches have shown that mutations of CYP11B1 gene would result in decreased activity or inactivation of the enzyme in classical 11?- hydroxylase deficiency,and their relationship between genotype and phenotype of 11?-hydroxylase deficiency is not clear.