Nakamura F, Taira M, Hashimoto N, Makino H, Sasaki N
Department of Pediatrics, Shimoshizu National Hospital and Sanatorium, Chiba, Japan.
Endocrinol Jpn. 1989 Jun;36(3):349-58. doi: 10.1507/endocrj1954.36.349.
We describe a 17-yr-old girl with insulin resistant diabetes, acanthosis nigricans, hirsutism and short stature. At the age of 14 she was found to have glycosuria and diagnosed as diabetes mellitus. No endocrinological abnormality except transient amenorrhea and exaggerated LH response to LHRH was found. Insulin resistance was demonstrated by fasting hyperinsulinemia, insulin tolerance test and euglycemic glucose clamp test, and large doses of insulin with CSII were not effective in controlling blood glucose. Insulin binding to erythrocytes was normal, suggesting a postbinding defect. The same phenotype of insulin resistant diabetes and short stature was found in her mother who was diagnosed as diabetes mellitus at the age of 31 and died of diabetic nephropathy at the age of 41. Her maternal grandfather and uncle were reportedly affected with the same phenotype. Her father had impaired glucose tolerance, but no hyperinsulinemia. Two sisters had essentially normal glucose tolerance. Insulin binding to erythrocytes of her father and mother was also in the normal range. These results suggest that the present case may be a rare syndrome present together with type C syndrome of insulin resistance, and with short stature which was inherited autosomal dominantly.
我们描述了一名17岁患有胰岛素抵抗性糖尿病、黑棘皮病、多毛症和身材矮小的女孩。14岁时，她被发现有糖尿，并被诊断为糖尿病。除了短暂性闭经和对促黄体生成素释放激素（LHRH）的促黄体生成素（LH）反应亢进外，未发现内分泌异常。通过空腹高胰岛素血症、胰岛素耐量试验和正常血糖胰岛素钳夹试验证实了胰岛素抵抗，并且大剂量胰岛素持续皮下胰岛素输注（CSII）在控制血糖方面无效。胰岛素与红细胞的结合正常，提示存在结合后缺陷。在她母亲身上发现了相同表型的胰岛素抵抗性糖尿病和身材矮小，她母亲31岁时被诊断为糖尿病，41岁时死于糖尿病肾病。据报道，她的外祖父和舅舅也有相同的表型。她的父亲糖耐量受损，但没有高胰岛素血症。两个姐妹的糖耐量基本正常。她父母红细胞上的胰岛素结合也在正常范围内。这些结果表明，本病例可能是一种罕见综合征，与C型胰岛素抵抗综合征同时出现，并伴有常染色体显性遗传的身材矮小。
