Artigos Originais, Revisões e Atualizações October 01, 2004 October 01, 2004

11beta-hydroxylase deficiency

DOI: 10.1590/S0004-27302004000500018

Congenital adrenal hyperplasia due to 11b-hydroxylase enzyme deficiency is a result of the impairment of 11-deoxycortisol to cortisol conversion. In general, it is responsible for less than 5% of the congenital adrenal hyperplasia cases. The clinical expression of androgen excess in females includes several degrees of genital ambiguity, varying from clitoromegaly to complete virilization. Due to the accumulation of mineralocorticoids, approximately 50% of the patients develop blood hypertension. Mutations in the CYP11B1 gene are responsible for the disease. Biochemical and molecular characteristics of the enzyme and their implications in the clinical presentation of 11b-hydroxylase deficiency are reviewed here.