Kageyama Kazunori, Sakihara Satoru, Yamashita Maki, Takahashi Kazuhiro, Kawashima Shoko, Tanabe Jutaro, Tsutaya Shoji, Yasujima Minoru, Suda Toshihiro
Department of Endocrinology and Metabolism, Hirosaki University School of Medicine, Aomori 036-8562, Japan.
Am J Med Sci. 2008 May;335(5):398-402. doi: 10.1097/MAJ.0b013e31815200f8.
A 38-year-old woman with RET gene mutation presented with tumors in her thyroid and bilateral adrenal glands. I-metaiodobenzylguanidine scintigraphy revealed accumulation of the radioisotope in both adrenal glands. Both plasma adrenaline and noradrenaline levels were elevated. The circadian rhythms for plasma adrenocorticotropic hormone (ACTH) and cortisol levels were disturbed. Plasma ACTH and cortisol levels failed to be suppressed by an overnight dexamethasone test, suggesting autonomic secretion of ACTH and cortisol, although the patient had no typical Cushingoid features, hypertension, or impaired glucose tolerance. Pathological examination showed that these tumors were pheochromocytoma and thyroid medullary carcinoma, respectively, both of which highly expressed corticotropin-releasing factor, urocortin1, and urocortin3. Together with the endocrinological and pathological observations, the patient was diagnosed as multiple endocrine neoplasia type II with corticotropin-releasing factor- and urocortin-producing tumors that stimulated ACTH and glucocorticoid secretion.
一名患有RET基因突变的38岁女性，甲状腺和双侧肾上腺出现肿瘤。间碘苄胍闪烁扫描显示放射性同位素在双侧肾上腺积聚。血浆肾上腺素和去甲肾上腺素水平均升高。血浆促肾上腺皮质激素（ACTH）和皮质醇水平的昼夜节律紊乱。过夜地塞米松试验未能抑制血浆ACTH和皮质醇水平，提示ACTH和皮质醇自主分泌，尽管该患者没有典型的库欣样特征、高血压或糖耐量受损。病理检查显示，这些肿瘤分别为嗜铬细胞瘤和甲状腺髓样癌，二者均高表达促肾上腺皮质激素释放因子、尿皮质素1和尿皮质素3。结合内分泌学和病理学观察结果，该患者被诊断为II型多发性内分泌肿瘤，伴有分泌促肾上腺皮质激素释放因子和尿皮质素并刺激ACTH和糖皮质激素分泌的肿瘤。
