21 HYDROXYLASE DEFICIENCY

Course overview

21-HYDROXYLASE DEFICIENCY IS AN AUTOSOMAL RECESSIVE DISORDER CAUSED BY A DEFICIENCY IN ONE OF THE ENZYMES REQUIRED FOR THE SYNTHESIS OF CORTISOL IN THE ADRENAL GLANDS. 21-HYDROXYLASE DEFICIENCY IS THE MOST COMMON CAUSE OF CONGENITAL ADRENAL HYPERPLASIA BUT CAN BE A CHALLENGE TO DIAGNOSE AND TREAT. THIS ACTIVITY REVIEWS THE USE OF GLUCOCORTICOID AND MINERALOCORTICOID REPLACEMENT AS THE MAINSTAYS OF TREATMENT AND HIGHLIGHTS THE ROLE OF A WELL-COORDINATED INTERPROFESSIONAL CARE TEAM IN IMPROVING OUTCOMES FOR PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA.