Description

Klinefelter’s syndrome is a disease found only in men.  It is caused by the presence of one or more extra X chromosomes.  Klinefelter’s syndrome affects about 1 out of every 500 males.

Inheritance

Klinefelter’s syndrome occurs randomly, and is not inherited.  It is caused by nondisjunction, when an egg or sperm cell receives one or more extra copies of the X chromosome.

Symptoms

Young boys with Klinefelter’s syndrome have weaker muscles than normal children.  Growing up, the boys are generally taller than normal, but have less control and coordination.  Many boys with Klinefelter’s have language and learning problems.  Some learn to talk late or have problems using language to communicate thoughts.  Younger boys are quiet and lack self-confidence, but adults usually have normal social relationships.  Infertility is common among adults with Klinefelter’s.  Young boys don’t make as much testosterone, a hormone necessary for sexual development, which is why they aren’t very strong.  They also have less facial and body hair than normal boys.

Treatment

One form of treatment for Klinefelter’s syndrome is testosterone therapy.  This can help with many of the symptoms.  Other treatments are used for language, learning, and social difficulties.  Educational support can help with learning, speech therapy can help with language, and counseling can help with social problems.  People with Klinefelter’s syndrome usually have regular medical checkups to test for new symptoms or conditions.

Diagnosis/Prognosis/Lifespan

The diagnosis of Klinefelter’s syndrome can be done by looking for an extra X chromosome.  There are two ways that this can be done before birth.  However, since both ways run the risk of miscarriage, these tests are no run just to look for Klinefelter’s syndrome.  After birth, blood or skin samples can be tested.  Most men with Klinefelter’s syndrome lead normal lives.  However, most of them are sterile.  Men with Klinefelter’s syndrome also have higher risks of getting other diseases like epilepsy and arthritis.  The lifespan of men with Klinefelter’s syndrome is also about 2 years shorter than men without it.