West R J, Lloyd J K, Turner W M
Arch Dis Child. 1975 Sep;50(9):703-8. doi: 10.1136/adc.50.9.703.
West, R. J., Lloyd, J. K., and Turner, W. M. L. (1975). Archives of Disease in Childhood, 50, 703. Familial insulin-resistant diabetes, multiple somatic anomalies, and pineal hyperplasia. A syndrome comprising unusual facies, dry skin, acanthosis nigricans, thickened nails, hirsutism, dental precocity and dysplasia, abdominal protuberance, and phallic enlargement is described in 2 sibs. Both have developed diabetic ketoacidosis with insulin resistance. The elder child, a girl, had recurrent septic episodes and died at the age of 7-8 years. At necropsy the pineal gland was hyperplastic, weighing 900 mg. Investigation of the younger sib over a 4-year period has shown decreasing glucose tolerance, and he was frankly diabetic with ketoacidosis by the age of 6-8 years. Serum insulin concentrations have always been grossly raised. Though the mechanism for insulin resistance has not been definitely established, a functional abnormality of the hypothalamus or pituitary is postulated to explain the many endocrine features of the syndrome.
韦斯特，R. J.，劳埃德，J. K.，以及特纳，W. M. L.（1975年）。《儿童疾病档案》，第50卷，第703页。家族性胰岛素抵抗糖尿病、多种躯体异常和松果体增生。本文描述了2名同胞兄妹患有一种综合征，其特征包括面容异常、皮肤干燥、黑棘皮病、指甲增厚、多毛症、牙齿早熟和发育异常、腹部膨隆以及阴茎增大。两人均出现了伴有胰岛素抵抗的糖尿病酮症酸中毒。年长的孩子是个女孩，反复发生败血症，7 - 8岁时死亡。尸检发现松果体增生，重900毫克。对年幼的同胞兄妹进行了4年的调查，结果显示其葡萄糖耐量逐渐下降，到6 - 8岁时已明确患有糖尿病并伴有酮症酸中毒。血清胰岛素浓度一直显著升高。虽然胰岛素抵抗的机制尚未明确，但推测下丘脑或垂体的功能异常可解释该综合征的多种内分泌特征。
