1. Understand the Genetic Component
Klinefelter syndrome is a genetic disorder in which male babies are born with an extra X chromosome. There is no way to prevent the genetic abnormality from occurring, but awareness, early diagnosis and early treatment can help prevent some of the symptoms. If your family has a history of Klinefelter syndrome, you may want to be tested prenatally for the disorder using amniocentesis and chorionic villus sampling (CVS). Testing can also be done at birth and during early childhood. Symptoms of this disorder are not usually apparent until the beginning of puberty, so genetic testing can be a valuable tool in early diagnosis.
2. Look for Symptoms Early
Klinefelter syndrome has a number of symptoms that are present in varying degrees of severity. Most symptoms of this disorder are not noticed until puberty begins, but some boys may have developmental problems that present themselves earlier. Trouble learning to talk, read or write may indicate Klinefelter syndrome. Likewise, some behavioral problems, such as poor impulse control, slow response time, aggressiveness, shyness and trouble with multitasking, may be present.
Physical symptoms become most apparent at the onset of puberty between the ages of 10 to 12. These symptoms include lack of testicle growth, overgrowth of breast tissue (gynecomastia), little to no growth of pubic, facial and body hair and poor muscle development. Additionally, boys with Klinefelter syndrome tend to be taller than other men in the family and have longer legs and wider hips. The physical symptoms are caused by a testosterone deficiency. Normally, testosterone production increases at puberty, but that does not occur with Klinefelter syndrome.
3. Start Treatment at Puberty
Early intervention is the key to preventing Klinefelter syndrome from causing your child's body to develop abnormally. Testosterone therapy should be started at the beginning of puberty if tests show low testosterone levels. In many cases, this early intervention can prevent such embarrassing symptoms as enlarged breasts and small testicles. Consequently, some of the emotional effects of this syndrome can also be prevented. Early intervention will allow your child to feel more "normal" and will likely help with his self-esteem, which can be negatively affected by Klinefelter syndrome.


