Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome
Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome
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DOI：
10.1159/000093826
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发表时间：
2006-01-01
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影响因子：
--
通讯作者：
German, James
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文献类型：
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作者：
Diaz, Alejandro;Vogiatzi, Maria G.;German, James
目的：了解比例性侏儒症和布鲁姆综合征 (BS) 内分泌病的病因。方法：将随机选择的 BS 患者群体（n = 11；平均年龄 11.5 岁，范围 9 个月至 28.5 岁）纳入 NIH 支持的临床研究中心，为期 5 天，进行临床和遗传病史采集、体检以及内分泌、胃肠病和免疫学检测。结果：所有参与者均进行了口服葡萄糖耐量测试。 4 人出现葡萄糖耐量受损，6 人观察到胰岛素抵抗，1 人发现先前未被识别的糖尿病。在 10 人测试中，生长激素激发正常。隔夜频繁的 GH 采样提示 3 名参与者存在神经分泌功能障碍。2 名参与者发现代偿性甲状腺功能减退症。 10 人中有 5 人存在脂质谱异常。所有测试中均发现低免疫球蛋白浓度（IgG 和/或 IgM）。在所有接受测试的个体中，D-木糖和/或粪便脂肪测量的肠道吸收也正常。结论：碳水化合物代谢改变在 BS 中非常常见，并且从儿童时期就存在。 BS 侏儒症与生长激素缺乏或吸收不良无关。 BS 生长限制的依据仍有待阐明。版权所有 (c) 2006 S. Karger AG，巴塞尔。
Aims:To obtain an understanding of the etiology of proportional dwarfism and endocrinopathies of Bloom's syndrome (BS). Methods: Admission for 5-day periods to an NIH-supported Clinical Research Center of a randomly selected population of persons with BS (n = 11; mean age 11.5 years, range 9 months to 28.5 years) for clinical and genetic history-taking, physical examination, and endocrinological, gastroenterological and immunological testing. Results: An oral glucose tolerance test was performed in all participants. Impaired glucose tolerance was present in 4 individuals, insulin resistance was observed in 6 individuals, and previously unrecognized diabetes was found in 1. Growth hormone provocation was normal in the 10 individuals tested. Overnight frequent GH sampling was suggestive of neurosecretory dysfunction in 3. Compensated hypothyroidism was found in 2 participants. Lipid profile abnormalities were present in 5 of 10 individuals. Low immunoglobulin concentrations (IgG and/or IgM) were seen in all tested. intestinal absorption by D-xylose and/or fecal fat measurement was normal in all individuals tested as well. Conclusion: Altered carbohydrate metabolism is very common in BS, and is present from childhood. BS dwarfism is not related to growth hormone deficiency or malabsorption. The basis for the growth restriction in BS remains to be elucidated. Copyright (c) 2006 S. Karger AG, Basel.