Klinefelter Syndrome

Klinefelter Syndrome is one of the most common Chromosome disorders affecting males. Humans have 46 chromosomes including two chromosomes which determine sex. Females have two X chromosomes while males generally have an X and a Y chromosome. However, males affected by Klinefelter syndrome have an extra X chromosome. Consequently, Klinefelter’s patients are often referred to as XXY males or 47 XXY males. The syndrome was named Klinefelter after Dr Henry Klinefelter who first documented symptoms of men with an extra X chromosome. Klinefelter syndrome affects around one in five hundred males born.

Not every male with two X chromosomes displays symptoms of Klinefelter syndrome and the severity of symptoms varies from individual to individual. The severity of symptoms generally depends on the number of XXY cells and the level of testosterone in the man’s body.

In childhood Klinefelter’s patients may have developmental difficulties. Babies may learn to crawl, sit and walk later than usual. Muscular development and co-ordination may be compromised and many children will experience learning difficulties particularly associated with language. Socially XXY males tend to be quiet, shy and lacking in self confidence. As they grow up xxy males generally develop certain physical characteristics – they tend to be tall and lanky with under-developed muscles and little or no facial and body hair. Boys often develop wider hips and gynecomastia, meaning enlarged breasts. Klinefelter syndrome is also characterized by low levels of testosterone.

As adults xxy males may lead relatively normal lives but may experience sexual problems and often have smaller genitalia. Almost all xxy males are sterile as they produce little or no sperm.

Klinefelter’s may be diagnosed by performing karyotyping which involves counting and examining the structure of chromosomes. The test can be performed on blood or bone marrow samples or even performed on amniotic fluid drawn from the placenta of an unborn baby. Statistics indicate that a positive result for Klinefelters during pregnancy results in a termination rate of over fifty percent. Semen counts, serum testosterone and other hormone tests may also be used to diagnose Klinefelter’s syndrome.

XXY males are more susceptible to certain conditions such as lung diseases, varicose veins, dyslexia, Attention Deficit Hyperactivity Disorder and autoimmune diseases like lupus and rheumatoid arthritis. XXY males are also prone to diseases such as breast cancer and osteoporosis which ordinarily affect only females.

Klinefelter syndrome exists at birth and cannot be reversed. However, a variety of treatments may be used to reduce the severity of symptoms. Testosterone therapy may be used to help develop muscles, improve strength, increase libido, grow facial and body hair and deepen voice. A small percentage of xxy men may also respond to fertility treatment and go on to father children. Physical, speech and occupational therapy can also help with some of the other challenges the males face.

The key to achieving an ideal outcome is early diagnosis and appropriate treatment, as this allows many xxy males to go on and lead normal and productive lives.