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.
|Number of pages
|Published - 1 Jan 1977
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health