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Steroid 17α‐hydroxylase deficiency: First Australian case report
Author(s) -
CAMERON FJ,
MONTALTO J,
YONG ABW,
WARNE GL
Publication year - 1997
Publication title -
journal of paediatrics and child health
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.631
H-Index - 76
eISSN - 1440-1754
pISSN - 1034-4810
DOI - 10.1111/j.1440-1754.1997.tb01593.x
Subject(s) - medicine , congenital adrenal hyperplasia , endocrinology , gonadal dysgenesis , 21 hydroxylase , glucocorticoid , androgen , hormone
17α‐hyroxylase deficiency is a rare form of congenital adrenal hyperplasia (CAM) 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 17α‐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.