New ideas for medical treatment of congenital adrenal hyperplasia

During the past 50 years since the discovery of cortisone therapy as an effective treatment for CAH, many advances have been made in the management of 21-hydroxylase deficiency. Despite these advances, the clinical management of patients with CAH is often complicated by abnormal growth and development, iatrogenic Cushing's syndrome, inadequately treated hyperandrogenism, and infertility. New treatment approaches to classic CAH represent potential solutions to these unresolved issues. At the National Institutes of Health, a long-term randomized clinical trial is investigating a new treatment regimen: a reduced hydrocortisone dose, an antiandrogen, and an aromatase inhibitor. Peripheral blockade of androgens may also be helpful in the adult woman with CAH and PCOS. Other promising new treatment approaches include LHRH agonist-induced pubertal delay with or without growth hormone therapy, alternative glucocorticoid preparations or dose schedules, CRH antagonist treatment, and gene therapy. The applicability and success of these new approaches await the results of current research.