Part of “CHAPTER 77 – CONGENITAL ADRENAL HYPERPLASIA“

Patients with simple virilizing or salt-wasting classic 21-hydroxylase deficiency or those with 11β-hydroxylase, 17α-hydroxylase/17,20-lyase, and 3β-HSD deficiencies, as well as select symptomatic patients with nonclassic forms of these diseases, are treated with daily oral hydrocortisone or similar drugs. Treatment with glucocorticoids suppresses excessive secretion of ACTH, correcting the adrenal hormone imbalance. Patients with the salt-wasting form of CAH require additional supplementation with mineralocorticoids (e.g., fludrocortisone acetate [Florinef], 50–200 μg per day) and sodium chloride supplements (1 to 2 g/10 kg body weight). Older children and adults with simple virilizing disease who are treated adequately with glucocorticoids usually do not have a clinically apparent deficiency of aldosterone, nor is renin markedly elevated. Many pediatric endocrinologists empirically treat all CAH patients with fludrocortisone and sodium chloride despite the lack of signs of salt wasting. Prudence dictates following PRA in all patients as an index of the need for mineralocorticoid and salt supplements. Caution is advised to avoid development of hypertension consequent to excessive or unnecessary treatment with the latter regimen.

Glucocorticoid treatment also leads to reduction of mineralocorticoid hormones in 11β-hydroxylase and 17α-hydroxylase deficiency, with amelioration of hypertension. In cases of longstanding hypertension, adjunctive antihypertensive drugs may be required to completely normalize blood pressure.

The usual mode of treatment for CAH in childhood is with two to three divided daily doses of hydrocortisone totaling 10 to 20 mg/m² per day (average dosage ˜15 mg/m² per day). Even this relatively low dosage may be supraphysiologic, because healthy children and adolescents secrete an average of ˜7 μg/m² of cortisol daily.52,53 Experience indicates that once-daily doses of hydrocortisone, because of its relatively rapid metabolism, is therapeutically suboptimal over the long term.