Kurtoğlu Selim, Atabek M Emre, Keskin Mehmet, Patiroglu Tahir Ercan
Department of Pediatrics, Erciyes University, School of Medicine, Kayseri, Turkey.
J Pediatr Endocrinol Metab. 2003 Dec;16(9):1311-4. doi: 10.1515/jpem.2003.16.9.1311.
We report a 6 year-old boy with the simple virilizing form of 21-hydroxylase deficiency in whom an adrenal adenoma developed following 5 years of steroid treatment. Extremely high levels of basal serum 17alpha-hydroxyprogesterone as well as an exaggerated response of 17alpha-hydroxyprogesterone to adrenocorticotropic hormone confirmed congenital adrenal hyperplasia at 7 years of age. Initially elevated serum steroid levels were restrained by high dose hydrocortisone therapy, but he chronically tended to take inadequate doses of glucocorticoid. At 12 years of age an adenoma was found in the cortex of the hyperplastic right adrenal gland. The importance of early diagnosis and compliance with medication in the simple virilizing form of 21-hydroxylase deficiency is stressed.
我们报告一名6岁男孩,患有单纯男性化型21-羟化酶缺乏症,在接受5年类固醇治疗后发生了肾上腺腺瘤。基础血清17α-羟孕酮水平极高,以及17α-羟孕酮对促肾上腺皮质激素的过度反应,证实该男孩在7岁时患有先天性肾上腺增生症。最初升高的血清类固醇水平通过高剂量氢化可的松治疗得到控制,但他长期倾向于服用不足剂量的糖皮质激素。12岁时,在增生的右肾上腺皮质中发现了一个腺瘤。强调了早期诊断和在单纯男性化型21-羟化酶缺乏症中坚持用药的重要性。