ABSTRACT
The congenital adrenal hyperplasias (CAH) are a group of relatively rare autosomal recessive disorders that result from mutations (in homozygosity or double heterozygosity) in the genes encoding several enzymes or proteins involved in the synthesis of adrenal steroids. They share a common pathophysiologic mechanism that consists of a deficiency in the synthesis and secretion of cortisol, the main glucocorticoid in humans. Although certain mechanisms are not completely understood, cortisol deficiency results in compensatory stimulation of the hypothalamic-pituitary axis, hypersecretion of corticotropinreleasing hormone (CRH) and corticotropin (ACTH), and hyperplasia of the dysfunctional adrenal glands (1).
