Nakashima N, Miyamura T, Yamashita T, Yamauchi T, Umeda F, Kawada Y, Noda M, Nawata H
Third Department of Internal Medicine, Faculty of Medicine, Kyushu University, Fukuoka, Japan.
Endocrinol Jpn. 1992 Aug;39(4):347-53. doi: 10.1507/endocrj1954.39.347.
We present the unusual case of a 17-year-old female with insulin-resistant diabetes, acanthosis nigricans, hirsutism, amenorrhea, dental dysplasia and lipopexia on the extremities. She had been diagnosed as having border line diabetes with hyperinsulinemia at age 12 when she was not obese and diabetes mellitus at age 13. On admission, she was obese and had lipopexia only on the extremities. The presence of hyperinsulinemia and poor response to exogenous insulin suggested severe insulin resistance. Insulin binding to transformed B-lymphoblasts derived from her was extremely low compared to the normal control, showing decreased receptor affinity. Her parents and sister exhibited hypersecretion of insulin in response to a 75 g oral glucose tolerance test. Her mother was diabetic, and her father and sister had border line diabetes, whereas her brother had a normal response. These findings support strongly the diagnosis of a type A syndrome with severe insulin resistance associated with lipopexia on the extremities. A genetic defect in the insulin receptor gene may be responsible.
我们报告了一例不寻常的病例，患者为一名17岁女性，患有胰岛素抵抗性糖尿病、黑棘皮症、多毛症、闭经、牙齿发育异常以及四肢脂肪沉积。她在12岁时被诊断为边缘性糖尿病伴高胰岛素血症，当时并不肥胖，13岁时被诊断为糖尿病。入院时，她肥胖，且仅四肢有脂肪沉积。高胰岛素血症的存在以及对外源性胰岛素反应不佳提示严重的胰岛素抵抗。与正常对照相比，她来源的转化B淋巴细胞对胰岛素的结合极低，显示受体亲和力降低。她的父母和姐姐在口服75克葡萄糖耐量试验后表现出胰岛素分泌过多。她的母亲患有糖尿病，父亲和姐姐患有边缘性糖尿病，而她的哥哥反应正常。这些发现有力地支持了伴有四肢脂肪沉积的严重胰岛素抵抗的A型综合征的诊断。胰岛素受体基因的遗传缺陷可能是病因。
