Genetic risk factors for Venous Thromboembolism associated with Klinefelter Syndrome

The tendency towards thromboembolism is a serious complication related to Klinefelter’s Syndrome. Some KS patients may suffer from VTE in the form of deep vein thrombosis or pulmonary embolism, or both while others may complain of recurrent venous ulcers. The primary cause of this increased risk of VTE in KS patients is not clearly understood and so this has encouraged scientists to look for the cause and whether it is an outcome of an underlying genetic susceptibility, hormonal disturbances, or both.

In this study, screening for hereditary thrombophilia was done using a broad panel of six genes known to be established risk factors for thromboembolism and which, to the best of our knowledge, have never been assessed before in infertile men with KS.

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