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| Klinefelter syndrome合并2型糖尿病与易栓症1例报道 |
| A case report of Klinefelter syndrome complicated with type 2 diabetes and thrombophilia |
| 投稿时间：2025-01-08 修订日期：2025-05-28 |
| DOI： |
| 中文关键词: 克莱恩费尔特综合征,2型糖尿病,易栓症 |
| 英文关键词: Klinefelter syndrome thrombophilia type 2 diabetes |
| 基金项目:武汉市卫健委2023年度面上项目（编号：WX23B33） |
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| 中文摘要: |
| Klinefelter综合征（Klinefelter syndrome，KS）是男性常见的一种染色体疾病，会导致睾丸功能障碍等一系列疾病。易栓症是一种病理状态，多与遗传或获得性凝血异常相关，通常与基因突变、抗磷脂综合征、抗凝蛋白缺乏等因素相关。本文报道了一例KS合并2型糖尿病与易栓症的病例，患者反复发生下肢深静脉血栓甚至动脉血栓，经长期抗凝治疗与血糖管理后病情稳定。目前KS与易栓症的关联性研究较少，本病例结合文献分析，强调KS患者代谢异常与高凝状态的协同作用，提示临床医生需重视此类患者的血栓预防及多学科管理，以降低其致残率和致死率。 |
| 英文摘要: |
| Klinefelter syndrome (KS) is a prevalent chromosomal disorder in males, characterized by the presence of an extra X chromosome, which may result in testicular dysfunction and a range of associated comorbidities. Thrombophilia refers to a pathological condition involving either inherited or acquired coagulation abnormalities, often linked to genetic mutations, antiphospholipid syndrome, deficiencies in anticoagulant proteins, and other contributing factors. This article presents a case of KS complicated by type 2 diabetes mellitus and thrombophilia. The patient experienced recurrent deep venous thrombosis and arterial thrombosis of the lower extremities but achieved stabilization following long-term anticoagulant therapy and meticulous blood glucose management. Currently, there are limited studies exploring the relationship between KS and thrombophilia. In conjunction with a review of relevant literature, this case highlights the synergistic impact of metabolic abnormalities and a hypercoagulable state in patients with KS, underscoring the importance for clinicians to prioritize thrombosis prevention and implement multidisciplinary management strategies to minimize disability and mortality in these individuals. |
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