Management of the child with congenital adrenal hyperplasia

Classical congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency leads to glucocorticoid and mineralocorticoid deficiency. Management should be viewed as a process of care which requires input from an interdisciplinary team. Glucocorticoid therapy should take the form of hydrocortisone in a starting dose of 15mg/m²/day (divided into three doses), and the dose should be titrated to blood or urine profiles of cortisol and 17-hydroxyprogesterone. Mineralocorticoid replacement (9α-fludrocortisone) requires higher doses in infancy and childhood than in adolescence. The starting dose should be 150μg/m²/day, and the dose thereafter titrated to plasma renin activity and blood pressure. Despite adequate glucocorticoid substitution and concordance with medical therapy, control can be difficult during puberty due to alterations in the clearance of hydrocortisone, and dosing schedules may need to be adjusted to account for this. Follow-up should address the many facets of CAH, which should be assessed at an annual review, and a suggested protocol is presented.

Keywords: hydrocortisone, fludrocortisone, circadian rhythm, emergency therapy, chronic care, transition