STEROID 17-ALPHA-HYDROXYLASE DEFICIENCY - FIRST AUSTRALIAN CASE-REPORT

17 alpha-hydroxylase deficiency is a rare form of congenital adrenal h yperplasia (CAH) that affects both glucocorticoid and sex hormone bios ynthesis. We report a case of an unambiguous female with testes and hy pertension. She was found to have deficient 17 alpha-hydroxylase activ ity. The diagnosis was not made easily, the condition being unexpected due to its rarity. The discriminating feature of this form of sex-rev ersal is the presence of hypertension due to the elevated serum deoxyc orticosterone levels. A failure to detect this will inappropriately fo cus attention on other, more common causes of sex reversal such as and rogen insensitivity and gonadal dysgenesis, and expose the patient to the long-term sequelae of uncontrolled arterial hypertension.