The Adrenal Cortex in Childhood Part 2: Pathological Aspects*

Congenital adrenal hyperplasia (CAH) is the most important cause of the adrenogenital syndrome in infancy and childhood. It is a classic example of an 'inborn error of metabolism' and represents the clinical expression of a hereditary defect in the biosynthesis of cortisol. Studies on patients with this disorder have enriched our knowledge on the biosynthesis and metabolism of adrenocortical steroids, the psychosexual orientation and maturation in man, and the effects of androgens on growth and skeletal maturation. A most comprehensive review of the adrenogenital syndrome has been given recently (Bongiovanni and Root, 1963), while two other extensive papers on CAH have appeared in this journal during recent years (Wilkins, 1962b; Raiti and Newns, 1964). At least 3, and possibly 4, hereditary defects in the biosynthesis of cortisol have been described. An impaired biosynthesis of cortisol, whether due to a relative defect of 21-hydroxylation (Jailer, 1953), of 1 1-hydroxylation (Eberlein and Bongiovanni, 1956), or of 3p-dehydrogenation (Bongiovanni, 1961), will