title: Steroid 17alpha-hydroxylase deficiency: first Australian case report.
abstract: 17alpha-hydroxylase deficiency is a rare form of congenital adrenal hyperplasia (CAH) that affects both glucocorticoid and sex hormone biosynthesis. We report a case of an unambiguous female with testes and hypertension. She was found to have deficient 17alpha-hydroxylase activity. The diagnosis was not made easily, the condition being unexpected due to its rarity. The discriminating feature of this form of sex-reversal is the presence of hypertension due to the elevated serum deoxycorticosterone levels. A failure to detect this will inappropriately focus attention on other, more common causes of sex reversal such as androgen insensitivity and gonadal dysgenesis, and expose the patient to the long-term sequelae of uncontrolled arterial hypertension.
authors.affiliation: Department of Endocrinology and Diabetes, Royal Children's Hospital, Parkville, Victoria, Australia.
authors.forename: F J
authors.initials: FJ
authors.lastname: Cameron
authors.forename: J
authors.initials: J
authors.lastname: Montalto
authors.forename: A B
authors.initials: AB
authors.lastname: Yong
authors.forename: G L
authors.initials: GL
authors.lastname: Warne
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000453:epidemiology / Q000378:metabolism* / Q000473:pathology / Q000628:therapy; D001315:Australia / Q000453:epidemiology; D002648:Child; D005260:Female; D005836:Genitalia, Female / Q000002:abnormalities; D006801:Humans