Steroid 17alpha-hydroxylase deficiency: first Australian case report.
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.
Cameron
F J
FJ
Department of Endocrinology and Diabetes, Royal Children's Hospital, Parkville, Victoria, Australia.
Montalto
J
J
Yong
A B
AB
Warne
G L
GL
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