The authors present a case of 17alpha-hydroxylase deficiency, a rare enzymatic defect responsible for C.A.H. Biglieri and cols. published in 1966 the first report of this enzymatic defect. Today there are 180 cases reported in the literature. The patient being reported showed primary amenorrhea, absence of secondary sexual characteristics and hypertension of difficult control. During investigation a 46XY kariotype was found together with renin suppression, low androstenedione and testosterone and elevated pregnenolone levels. The patient was submitted to bilateral orchiectomy and is being clinically accompanied with conjugated estrogens, spironolactone, beta-blockers and dexamethasone while waiting for vaginoplasty.
Congenital adrenal hyperplasia; 17a-Hydroxylase deficiency; Steroids; Hypertension
