The syndrome of congenital adrenal hyperplasia in Israel

Congenital adrenal hyperplasia (CAH) is caused by an enzymatic defect at one of the various stages of steroid hormone synthesis in the adrenal gland. As a result of these defects, cortisol production is impaired, and uninhibited ACTH release occurs; increased amounts of intermediary steroids are produced, many of which have an anabolic effect, resulting in the clinical syndrome. A survey of cases of congenital adrenal hyperplasia in Israel revealed an unusually high incidence of the disease in general, and particularly of the 11-hydroxylase deficiency type, among Jews of North African origin. This disease thus joins a list of a number of genetic inborn errors of metabolism occurring with increased frequency in this population.