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

Abstract

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.