label: 11-Beta-Hydroxylase Deficiency
label_lc: 11-beta-hydroxylase deficiency
description: Decreased or absent activity of the enzyme 11-beta-hydroxylase caused by loss-of-function mutations in the CYP11B1 gene, resulting in congenital adrenal hyperplasia. Clinical manifestations of this condition include virilization in 46XX infants and hypertension.