Klinefelter's Syndrome

What is Klinefelter's Syndrome?

           In 1942, Dr. Harry F Klinefelter, Dr. Edward Conrad Reifenstein Jr, and their mentor Fuller Albright published a report about 9 men who had enlarged breasts, sparse facial and body hair, small testes, and inability to produce sperm. This combination of features has come to be recognized as Klinefelter's syndrome.  Klinefelter's syndrome is a genetic defect when a male has an extra chromosome.  What usually happens in birth of a male is that he would get an X chromosome from the mother and a Y chromosome from the father, but in the case of a boy with Klinefelter's the boy gains an extra X chromosome.  Now the chromosome arrangement is XXY instead of the usual XY.  This is why many people refer to men with Klinefelter's syndrome as "XXY boys."

          Klinefelter's syndrome is the most common genetic cause of male infertility, and it occurs in 1 in 500 boys. However, Klinefelter's syndrome often remains undiagnosed due to various reasons. The signs of the syndrome include small testes, insufficient production of testosterone, and infertility. Men with Klinefelter's syndrome are more likely to have larger breasts, lack of facial and body hair, a rounded body type, to be overweight, and they are usually taller than their fathers and brothers.