Male Gender Identity and Reversible Hypokalemic Hypertension in a 46,XX Child with 11-Beta-Hydroxylase Deficiency Congenital Adrenal Hyperplasia

Abstract

Steroid 11-beta-hydroxylase deficiency is a relatively rare form of congenital adrenal hyperplasia (CAH). We describe the case of a 46,XX child, reared as a male, who first presented to us at the age of three years with features of peripheral precocity and hypokalemic hypertension. Based on the clinical and biochemical profile, a diagnosis of 11-beta-hydroxylase deficiency CAH was established, and physiological glucocorticoid replacement was begun. Both hypertension and hypokalemia improved with glucocorticoid supplementation, and at eight years of age, antihypertensives were successfully withdrawn. Regression of left ventricular hypertrophy was also noted at this time. In keeping with the male gender identity, the child underwent hysterectomy, oopherectomy and breast reduction surgery at 13 years of age. We conclude that both hypertension and end-organ damage due to 11-beta-hydroxylase CAH may get reversed following optimal glucocorticoid treatment. Detailed genital examination at birth may help in early diagnosis of this rare disorder, thereby preventing the deleterious consequences of longstanding mineralocorticoid excess.