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A case of 17 alpha-hydroxylase deficiency syndrome associated with right adrenal tumor.

A 35-year-old woman, who had been hypertensive for about 17 years and had lacked menarche, showed hypokalemia, low plasma cortisol and aldosterone levels, suppressed renin activity, and marked elevation of plasma corticosterone. The patient was diagnosed as having 17 alpha-hydroxylase deficiency from functional studies. In addition, a right adrenal tumor was found by adrenal venography. Adrenal venous sampling showed that this tumor might be secreting corticosterone and possibly also deoxycorticosterone (DOC). The genotype was 46,XY, so she was diagnosed as having male pseudohermaphroditism. Right adrenalectomy and contralateral adrenal biopsy were done. The retained testicles were removed. Dexamethasone administration normalized the blood pressure and serum potassium. This is the first report of 17 alpha-hydroxylase deficiency with a right adrenal tumor.