Congenital adrenal hyperplasia (CAH) consists of a group of autosomal recessive disorders; each of which is associated with the deficiency of an enzyme involved in the synthesis of cortisol, aldosterone, or both. The clinical features of each type of congenital adrenal hyperplasia depend on the degree of cortisol deficiency and/or aldosterone deficiency. These features in several cases demonstrate the buildup of precursor adrenocortical hormones, which produces anomalies like hypertension or virilization when present in supraphysiologic concentrations.
CAH due to 17-Alpha-hydroxylase deficiency ia associated with mutations in CYP17A1 gene.