Steroid 17alpha-hydroxylase deficiency: first Australian case report
| Autor: | Fergus J. Cameron, G. L. Warne, Arthur B.W. Yong, J. Montalto |
|---|---|
| Rok vydání: | 1997 |
| Předmět: |
medicine.medical_specialty
medicine.drug_class medicine.medical_treatment Gonadal dysgenesis Steroid Sex hormone-binding globulin Internal medicine medicine Humans Congenital adrenal hyperplasia Child biology Adrenal Hyperplasia Congenital Hydroxylase deficiency business.industry Australia Genitalia Female Sex reversal medicine.disease Androgen Endocrinology Pediatrics Perinatology and Child Health biology.protein Female business Glucocorticoid medicine.drug |
| Zdroj: | Journal of paediatrics and child health. 33(3) |
| ISSN: | 1034-4810 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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