Congenital adrenal hyperplasia (CAH) is an inherited disorder of adrenal steroid biosynthesis. The basic defect is the deficiency of an enzyme in the pathway of cortisol production. This results in distinct biochemical and clinical features, each depending on the site of the deficient enzyme, and on the secondary effects of steroids, which are produced in excess in an attempt to compensate for diminished circulating cortisol. This article describes recent advances in the definition, genetics and treatment of 21-OH deficiency, the commonest defect. Current advances in the other defects are also outlined.
Savage, M. O. (1985). Congenital adrenal hyperplasia. In Clinics in Endocrinology and Metabolism (Vol. 14, pp. 893–909). https://doi.org/10.1016/S0300-595X(85)80082-7