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一例克氏综合征合并 1 型糖尿病。

A case of Klinefelter's syndrome with type 1 diabetes mellitus.

机构信息

Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, and Department of Endocrinology, China-Japan Friendship Hospital, Beijing 100730, China.

出版信息

Chin Med J (Engl). 2012 Mar;125(5):937-40.

PMID:22490600
Abstract

Klinefelter’s syndrome (KS) is the most common sex chromosome disease in men. Classical features of the syndrome include a eunuchoidal body habitus, small testes and hypergonadotrophic hypogonadism. There has been an increased risk of diabetes mellitus and autoimmune disease for KS patients. This paper reports a case of KS in association with type 1 diabetes mellitus. The patient was a 21-year-old man, who has been confirmed by absolute insulin deficiency and positive IA-2 autoantibody. The hyperinsulinemic euglycemic clamp test indicated his insulin sensitivity in normal range, and his blood glucose was controlled well by the insulin therapy.

摘要

克莱恩费尔特综合征(KS)是男性最常见的性染色体疾病。该综合征的典型特征包括宦官体型、小睾丸和促性腺激素性性腺功能减退症。KS 患者的糖尿病和自身免疫性疾病风险增加。本文报告了一例 KS 合并 1 型糖尿病。患者为 21 岁男性,经绝对胰岛素缺乏和 IA-2 自身抗体阳性确诊。高胰岛素-正常血糖钳夹试验表明其胰岛素敏感性正常,胰岛素治疗可良好控制血糖。

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A case of Klinefelter's syndrome with type 1 diabetes mellitus.一例克氏综合征合并 1 型糖尿病。
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Diabetes mellitus associated with Klinefelter's syndrome: a case report and review in Japan.与克兰费尔特综合征相关的糖尿病:日本的一例病例报告及文献复习
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引用本文的文献

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Non-organ-specific autoimmunity in adult 47,XXY Klinefelter patients and higher-grade X-chromosome aneuploidies.成年 47,XXY 克氏综合征患者和更高等级 X 染色体非整倍体中的非器官特异性自身免疫。
Clin Exp Immunol. 2021 Sep;205(3):316-325. doi: 10.1111/cei.13616. Epub 2021 Jun 10.
2
gene downregulation in peripheral blood mononuclear cells of patients with Klinefelter syndrome.克氏综合征患者外周血单个核细胞中的基因下调。
Asian J Androl. 2021 Mar-Apr;23(2):157-162. doi: 10.4103/aja.aja_37_20.
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Type 1 Diabetes Mellitus and Klinefelter Syndrome.
1型糖尿病与克兰费尔特综合征
Intern Med. 2019 Jan 15;58(2):259-262. doi: 10.2169/internalmedicine.1051-18. Epub 2018 Aug 24.
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Dynamics of diabetes and obesity: Epidemiological perspective.糖尿病和肥胖症的动态:流行病学视角。
Biochim Biophys Acta Mol Basis Dis. 2017 May;1863(5):1026-1036. doi: 10.1016/j.bbadis.2017.01.016. Epub 2017 Jan 24.
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Screening of endocrine organ-specific humoral autoimmunity in 47,XXY Klinefelter's syndrome reveals a significant increase in diabetes-specific immunoreactivity in comparison with healthy control men.对47,XXY克氏综合征患者内分泌器官特异性体液自身免疫进行筛查发现,与健康对照男性相比,糖尿病特异性免疫反应性显著增加。
Endocrine. 2016 Apr;52(1):157-64. doi: 10.1007/s12020-015-0613-y. Epub 2015 May 3.
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Non-chimerism and chimerism pseudo dicentric Y chromosome: two case reports about azoospermia and cytogenetic/molecular genetic analysis in the Chinese population.非嵌合体和嵌合体假二倍体 Y 染色体:两例中国人无精子症的病例报告及细胞遗传学/分子遗传学分析。
J Assist Reprod Genet. 2013 Apr;30(4):539-46. doi: 10.1007/s10815-013-9969-1. Epub 2013 Mar 16.