------------------------------------------------------------------------ NEW DEVELOPMENTS IN THE TREATMENT AND DIAGNOSIS OF CONGENITAL ADRENAL HYPERPLASIA ------------------------------------------------------------------------ PHYLLIS W. SPEISER, MD CHIEF, DIVISION OF PEDIATRIC ENDOCRINOLOGY NORTH SHORE UNIVERSITY HOSPITAL ASSOCIATE PROFESSOR OF PEDIATRICS NEW YORK UNIVERSITY SCHOOL OF MEDICINE Standard CAH treatment: Currently, standard medical treatment consists of giving a glucocorticoid (a cortisol-like steroid medication, e.g., oral hydrocortisone in children, or prednisone or dexamethasone in older patients). In addition, those who have aldosterone deficiency ("salt-wasters") need another drug, fludrocortisone (Florinef, which acts like the missing hormone, aldosterone) to be able to retain salt. Infants and small children may also receive salt tablets as a dietary supplement, whereas older patients eat salty foods. Although many patients are well-managed on these types of medical regimens, it is very difficult to precisely mimic the native adrenal hormone rhythms and achieve perfect hormonal balance. Thus, most CAH patients have intermittent periods of fluctuating control with peaks and valleys in the hormones doctors use to monitor the effectiveness of treatment (specifically, 17-hydroxyprogesterone and androgens). This leads to increases in the steroid medication doses, and sometimes these become excessive. A known complication of high dose glucocorticoids is growth inhibition. Endocrinologists may find they are "between a rock and a hard place" treating some difficult- to- control CAH patients, since either over treating or under treating will ultimately stunt growth. Most CAH patients do not reach the target height predicted based on parental heights. They are on average about 1 to 2 standard deviations below the population average in height, meaning they are "short normal." A particularly important factor in determining final height in CAH patients is the amount of steroids given as treatment in the first 2 years of life. Doctors are now advocating more modest treatment doses to preserve height potential. All children with CAH should be seen frequently by a pediatric endocrinologist who not only measures blood hormone levels, but also carefully assesses height, weight, blood pressure, and an annual x-ray of the wrist (bone age x-ray).