The fundamental aim of endocrine therapy in CAH is to provide replacement of the deficient hormones. Since 1949, when Wilkins and Bartter discovered the efficacy of cortisone therapy for CAH due to 21-hydroxylase deficiency (Wilkins et al. 1950; Bartter et al. 1951; Bartter 1977), glucocorticoid therapy has been the keystone of treatment for this disorder. Glucocorticoid administration both replaces the deficient Cortisol and suppresses ACTH overproduction, resulting in cessation of overstimulation of the adrenal cortex and amelioration of the noxious effects of oversecreted adrenal steroids. Proper replacement therapy in 21- and 11 β-hydroxylase deficiencies suppresses excessive adrenal androgen production, averting further virilization, slowing accelerated growth and bone age advancement to a more normal rate, and allowing a normal onset of puberty (Fig. 16). Glucocorticoid treatment also leads to remission of hypertension in 11β- and 17α-hydroxylase deficiencies, presumably by suppressing oversecretion of DOC. Excessive glucocorticoid administration should be avoided since this produces Cushingoid facies, growth retardation, and inhibition of epiphyseal maturation. In the enzyme deficiencies which impair mineralocorticoid synthesis, the administration of salt-retaining steroid is required to maintain adequate sodium balance.
KeywordsCongenital Adrenal Hyperplasia Simple Virilizing Cortisone Therapy Deficient Cortisol Cushingoid Facies
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