Diagnosis of Klinefelter Syndrome in an epileptic patient presented with Male Infertility in Meghalaya: A rare case report

Klinefelter Syndrome (KS) is a genetic disease in men that hampers physical as well as cognitive development. The symptoms of KS vary greatly and many are never diagnosed or treated. Testicular failure is the classical feature associated with KS due to reduce level of testosterone. Decreased level of testosterone can lead to development of male breasts, delayed puberty, reduced facial or body hair and most importantly leads to male infertility. Early diagnosis of KS during puberty can lessen the impact that KS can cause both physically and psychologically through hormonal therapy and have a better life living with KS. This case study reports how a routine fertility investigation of a 39 year old tribal epileptic man from the state of Meghalaya became the first reported case of KS and was pronounced infertile. The case highlights the lack of awareness surrounding KS and the options for patients with KS have to father offspring.