Monitoring of Therapy in Congenital Adrenal Hyperplasia

BACKGROUND: Congenital adrenal hyperplasia is a group of disorders caused by defects in the adrenal steroidogenic pathways. In its most common form, 21-hydroxylase deficiency, patients develop varying de-grees of glucocorticoid and mineralocorticoid defi-ciency as well as androgen excess. Therapy is guided by monitoring clinical parameters as well as adrenal hor-mone and metabolite concentrations. CONTENT: We review the evidence for clinical and bio-chemical parameters used in monitoring therapy for congenital adrenal hyperplasia. We discuss the utility of 24-h urine collections for pregnanetriol and 17-ketosteroids as well as serum measurements of 17-hydroxyprogesterone, androstenedione, and testoster-one. In addition, we examine the added value of dail