Congenital adrenal hyperplasia causing hypertension: an illustrative review

Abstract

Congenital adrenal hyperplasia (CAH) is often considered a pediatric endocrinology condition, but we present two cases of young adults who presented with hypertension. An 18-year-old woman was found to have hypertension and hypokalemia when she presented for gonadectomy for 46, XY gonadal dysgenesis. She was subsequently found to have low cortisol, elevated progesterone, and elevated aldosterone. Genetic testing confirmed 17-alpha hydroxylase deficiency (17OHD). Her case was unique in that 17OHD usually presents with hypoaldosteronism. We also present the case of a 15-year-old man (46, XX) with resistant hypertension due to 11-beta hydroxylase deficiency (11OHD) who underwent bilateral adrenalectomy for control of hypertension. The relevant literature is reviewed including the pathophysiology, clinical presentation, and treatment of the hypertensive variants of congenital adrenal hyperplasia. We also review the unique areas of hyperaldosteronism in 17OHD and the use of bilateral adrenalectomy for control of hypertension in CAH.