Congenital Adrenal Hyperplasia due to 11-Beta-Hydroxylase Deficiency (CYP11B1)
Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is an autosomal recessive disorder caused by pathogenic variants in the gene CYP11B1. This corticosteroid biosynthesis disorder causes the production of excess androgen, glucocorticoid deficiency, hyperandrogenism, hypertension, and virilization in females. Individuals affected with the classic form of the disorder exhibit hypertension, early development of precocious puberty, accelerated growth velocity, and skeletal maturation leading to short stature in adulthood, as well as a life-long risk for adrenal crisis. Females with the classic form present with ambiguous external genitalia but normal internal reproductive organs, while females with the non-classic form present with normal female genitalia, but may develop excessive body hair growth and irregular menstruation. Males with the non-classic form only present with short stature. Patients with CAH have normal life expectancy but require treatment for life.
For information about carrier frequency and residual risk, please see the residual risk table.