17α-Hydroxylation Deficiency
| Autor: | Claudio E. Kater, Edward G. Biglieri |
|---|---|
| Rok vydání: | 1991 |
| Předmět: |
medicine.medical_specialty
Aldosterone endocrine system diseases business.industry medicine.drug_class Endocrinology Diabetes and Metabolism urologic and male genital diseases Androgen medicine.disease Androgen Excess Hyperaldosteronism Dysgenesis chemistry.chemical_compound Endocrinology chemistry Internal medicine Male pseudohermaphroditism medicine Precocious puberty Congenital adrenal hyperplasia business |
| Zdroj: | Endocrinology and Metabolism Clinics of North America. 20:257-268 |
| ISSN: | 0889-8529 |
| DOI: | 10.1016/s0889-8529(18)30267-6 |
| Popis: | Cases of sexual immaturity and male pseudohermaphroditism due to disorders such as androgen resistance, 5 alpha-reductase deficiency, cholesterol desmolase deficiency, 3 beta-hydroxysteroid dehydrogenase deficiency, and testicular and ovary dysgenesis can easily be distinguished from 17 alpha-OHD. None of these disturbances result in hypertension. In the only other form of juvenile hypertension due to congenital adrenal hyperplasia, 11 beta-OHD, androgen excess leads to female pseudohermaphroditism and precocious puberty in the male patient. Patients with dexamethasone-suppressible hyperaldosteronism present with no sexual abnormalities. A diagnosis of 17 alpha-OHD can be readily assumed in the female patient with primary amenorrhea, hypertension, and hypokalemia. The absence of aldosterone, a measurement that is readily available, establishes this diagnosis even without the measurement of DOC. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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