A Case of 17α-Hydroxylase Deficiency in Genetic Female with Normal Plasma Aldosterone Level and Rudimentary Uterus

Background: 17α-hydroxylase deficiency is a rare cause of congenital adrenal hyperplasia and endocrine hypertension. Only around 124 cases were reported in literature. Case: A 35-year-old Taiwanese female presented with severe hypertension (220/130 mmHg), absence of secondary sexual characteristics and primary amenorrhea. Chromosome study revealed 46XX karyotye. The laboratory data revealed hypokalemia, suppressed plasma renin activity, low level of sex steroids with high gonadotropin, morning cortisol level: 1.8μg/dl and ACTH: 235 pg/ml. Her plasma level of aldosterone (sitting position) was at high level of normal (23.6 ng/dl). We made the diagnosis of 17α-hydroxylase deficiency. Plasma aldosterone level was suppressed in most of the reported ca-ses while normal or elevated levels were also described in a considerable number. Her uterus was found to be rudimentary, which was reported in only one genetic female case before. Conclusion: We report a case of 17α-hydroxylase deficiency in genetic female with normal le-vel of plasma aldosterone and rudimentary uterus. ( J Intern Med Taiwan 2002;13: 141-146 )