C 17 HYDROXYLASE DEFICIENCY

Course overview

CONGENITAL ADRENAL HYPERPLASIA (CAH) COVERS A GROUP OF AUTOSOMAL RECESSIVE DISORDERS CAUSED BY A DEFICIENCY OF ONE OF THE ENZYMES REQUIRED FOR THE STEROID BIOSYNTHESIS (CORTISOL, ALDOSTERONE, OR BOTH) IN THE ADRENAL GLANDS. THE MOST COMMON CAUSE OF CAH IS A 21-HYDROXYLASE DEFICIENCY DUE TO MUTATIONS OR DELETIONS OF CYP21A, WHICH ACCOUNTS FOR MORE THAN 90% OF CAH CASES. ON THE OTHER HAND, A 17-HYDROXYLASE DEFICIENCY IS A RARE CAUSE OF CAH, ACCOUNTING FOR APPROXIMATELY 1% OF CASES. THIS ACTIVITY REVIEWS THE ETIOLOGY, EPIDEMIOLOGY, PATHOPHYSIOLOGY, EVALUATION, AND TREATMENT OF 17-HYDROXYLASE DEFICIENCY AND EXPLAINS THE ROLE OF THE INTERPROFESSIONAL TEAM IN MANAGING PATIENTS WITH THIS CONDITION.