Endocrine Abstracts

The management of adults with congenital adrenal hyperplasia due to classic 21-hydroxylase deficiency (21OHD) is a challenging balance of hormone replacement, disease control, and avoidance of adverse effects. The approach should emphasize the clinical evaluation and patient goals, and laboratory tests are used secondarily as ancillary data. Upon transition from pediatric to adult care, the concerns shift from growth and pubertal development to fertility, neoplasia formation, and long-term complications. Each visit requires a thorough physical exam to assess for cushingoid features such as skin thinning, bruising, muscle weakness, fat redistribution, and purple striae – much of this exam can be done via telemedicine. The most useful biomarkers to aid in glucocorticoid titration are androstenedione, the androstenedione/testosterone ratio in men, and follicular-phase progesterone in women attempting pregnancy. The major androgens in most 21OHD patients are the 11-oxygenated androgens, and these steroids appear to be useful analytes of disease control as well. Hydrocortisone remains the most effective glucocorticoid for cortisol replacement therapy. More potent synthetic glucocorticoids have narrower therapeutic indices and greater the risk of adverse effects than hydrocortisone. Attention to mineralocorticoid replacement is also important, and under-replacement is a common cause of chronic fatigue. Standing blood pressure, serum potassium, and plasma renin are used to titrate the fludrocortisone acetate dose in that order. Conceptually, the endocrinologist should distinguish doses used to replace the cortisol deficiency (first priority) and then additional doses to achieve adequate disease control. New treatments are under study to improve disease control while avoiding excessive glucocorticoid exposure.