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Seventeen Alpha-Hydroxylase Deficiency Associated with Absent Gonads and Myelolipoma: A Case Report and Review of Literature | ||
| Iranian Journal of Medical Sciences | ||
| مقاله 11، دوره 41، شماره 6، بهمن 2016، صفحه 543-547 اصل مقاله (445.11 K) | ||
| نوع مقاله: Case Report(s) | ||
| نویسندگان | ||
| Mahmood Soveid* 1؛ Ghanbar Ali Rais-Jalali2 | ||
| 1Endocrinology and Metabolism Research Center, Department of Internal Medicine, Nemazee Teaching Hospital, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran | ||
| 2Department of Internal Medicine, Nemazee Teaching Hospital, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran | ||
| چکیده | ||
| Congenital adrenal hyperplasia comprises a group of disorders resulting from defects in enzymes required for the synthesis of cortisol. The clinical presentation depends on the specific enzyme defect. We report a rare case of congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency. A 26-year-old female patient referred with hypertension and hypokalemia. She also had primary amenorrhea and lack of sexual development. The karyotype was 46, XY. Hormonal evaluation showed low serum levels of all steroid hormones, requiring alpha-hydroxylation, which included cortisol, 17 alpha-hydroxy progesterone, dehydroepiandrosterone sulfate, estradiol, and testosterone. The levels of adrenocorticotropic, follicle-stimulating, and luteinizing hormones were high. Radiological and surgical investigations failed to show a gonad. She also had a large myelolipoma. Treatment was commenced with low-dose dexamethasone and conjugated estrogen. Her hypertension and hypokalemia were resolved. The myelolipoma was removed by laparoscopy due to pain and sensation of heaviness. Our review of literature revealed that a combination of this disorder with either agonadism or myelolipoma is very rare and that only 2 previous cases have been reported for each entity. | ||
| کلیدواژهها | ||
| Steroid 17-alpha-hydroxylase؛ Adrenal hyperplasia-congenital؛ Male pseudohermaphroditism؛ Gonads؛ Myelolipoma | ||
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آمار تعداد مشاهده مقاله: 1,887 تعداد دریافت فایل اصل مقاله: 809 |
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