Klinefelters syndrome is the most common cause of primary testicular failure, resulting in impairment of both spermatogenesis and testosterone production. It is a chromosomal disorder characterized testosterone deficiency with elevated gonadotropin plasma levels and the treatment involves supplementing testosterone. In Klinefelters syndrome there is an increase of certain systemic diseases including venous thromboembolism. It is nevertheless more frequent than in a genetically normal male population (520 times).
A 44 year old male known to have Klinefelters syndrome presented with extensive swelling of the right lower limb and was confirmed to have deep vein thromboses (DVT). At the time of presentation he was on Nibido (testosterone depot) injection once in 12 weeks and was a ex smoker. His haemoglobin at presentation was 15.6 with haematocrit of 0.5. Because of the extensive nature of the DVT he was investigated further and was positive for Factor V leiden in the heterozygous state with A to G mutation at 1691. This contributed to his prothrombotic state and increases the risk further venous thrombotic state. The further course of action such as life long anticoagulation is yet to be discussed with him.
An increased thromboembolic risk in hypogonadic men has been explained with hypofibrinolysis due to androgen deficiency. Only few cases have been reported about the association between Klinefelters syndrome and well-known congenital or acquired thrombophilias. This case suggests that the increased thrombo-embolic risk, reported in Klinefelters syndrome, can be worsened by the co-existence of one or more well-known thrombophilic conditions. These studies should be done routinely in all the Kleinefelters with thrombo-embolic phenomenon. More studies are needed to clearly understand the pathogenesis of venous thrombo-embolism in males affected by Klinefelters syndrome. Early diagnosis of these disorders will allow timely treatment, preventive care and counseling of patients.