先天性睾丸发育不全综合征并发肺血栓栓塞症1例并文献复习

Acute pulmonary thromboembolism associated with Klinefelter's syndrome:the first case report and review of the literature in china

目的寻找肺血栓栓塞症(PTE)的病因,提高对先天性睾丸发育不全(Klinefelter)综合征并发静脉血栓栓塞症(VTE)的认识。方法结合北京协和医院2005-01-31收治的1例Klinefelter综合征(47XXY)并发急性大面积PTE患者的临床资料和文献复习,分析其病因、临床表现、诊断、治疗及预防。结果患者血浆激素水平检测:睾酮(4.8nmol/L)显著降低,卵泡刺激素(31.3U/L)和黄体生成素(29.1U/L)均明显升高,雌二醇(174.53pmol/L)正常高限值;凝血和纤溶检测:蛋白C(1.18mg/L)显著降低,PC活性(19%)明显减弱,蛋白S(15.70mg/L)降低,凝血酶调节蛋白(1.85μg/L)降低,总同型半胱氨酸(21.63μmol/L)升高。结论Klinefelter综合征并非少见疾病,VTE是其主要并发症之一,低睾酮、高雌激素、X性染色体数目增多、先天或获得性易栓症使VTE危险性显著增高。对无明确深静脉血栓形成而发生急性大面积PTE的患者(特别是中青年),应进行易栓症方面的检测。

Objective To seek the causes of pulmonary thromboembolism （PTE） and the association between Klinefelter＇s syndrome and venous thromboembolism （VTE） . Methods With a case report and review of the related literatures, the etiology, clinical manifestations, diagnosis, management and prophylaxis of VTE associated with Klinefelter＇s syndrome were described. Results This is a typical case of acute massive PTE hormonal examinations showed that total testosterone serum levels （4, 8 nmol/L） was significantly lower than the normal range, while follicle - stimulating hormone and luteinizing hormone were markedly increased （31, 3 U/L, 29. 1 U/L） and plasma estrogen level （ 174. 53 pmol/L） was close to the upper limit of the normal ranges, Coagulation and fibrinolytic parameters demonstrated that both protein C antigen （ 1.18 rag/L） and activity （ 19% ） were obviously decreased, and protein S antigen and thrombomodulin were also lower than the normal range （ 15.70 mg/L, 1.85 μg/L, respectively）, while plasma total homocystenie concentrations （21.63 μmol/L） was markedly higher than the normal range （ 〈 15 μmol/L） . Conclusion Klinefelter＇s syndrome is not a rare disease and VTE is one of the commonly major complications, The lower level of plasma testosterone, the higher concentration of estrogen, numerical sex chromosome abnormalities and congenital or acquired thrombophilias increased the risk of VTE, Meanwhile, it is very important to give further examinations about thrombophilias when an acute massive PTE occurs without defined deep venous thrombosis, especially in young patients.