Klinefelter syndrome is a genetic disorder affecting 1 in every 500 to 1 in every 1000 men in the United States. The condition causes low testosterone levels and infertility in adult males. Klinefelter males are born with at least one extra X chromosome in each of their cells. Normal males are born with an XY chromosome pattern - women are born with XX. By contrast, men with Klinefelter syndrome have a chromosome pattern that looks something like this: XXY.
Some Klinefelter males experience symptoms of their condition as boys or teenagers, and they therefore benefit from diagnosis and treatment at an earlier stage. Many men, however, find out that they have Klinefelter syndrome only after they try, and fail, to get their partners pregnant.
Because men with Klinefelter syndrome tend to have low testosterone, they may have some physical characteristics that make them stand out from other men. It's common, for example, for Klinefelter males to have less body or facial hair, and less muscle mass, than "normal" males. A man with this condition may also have unusually enlarged tissue in the breast area, or suffer from osteoporosis (weak bones - a condition more commonly found in women). He may also be taller than average. Small or abnormally shaped testicles are another symptom of the condition.
On the other hand, a great many Klinefelter males look completely ordinary, and enjoy a healthy and normal sex life until the time comes to have children. When a man has been having frequent, unprotected sex with his partner for a year but she hasn't got pregnant, the couple should go and see their doctor. There are a whole range of potential reasons why any couple might struggle to conceive, many of which are not related to the man. Even if the problem is male-factor infertility, the chances of a man having Klinefelter syndrome are relatively low.
Diagnosis And Treatment
When a couple that's having trouble getting pregnant sees a doctor about their fertility issues, the doctor will likely recommend a range of different tests to determine the reason for the problem. The man will probably be asked to provide a sperm sample so that the quality and quantity of his sperm can be assessed. The doctor may also request some genetic testing.
A combination of tests are used to diagnosis Klinefelter syndrome. These include physical examinations, hormone testing and chromosome analysis. A man who receives a positive diagnosis of Klinefelter syndrome will have to accept that it's very unlikely he'll ever biologically father a child. But that doesn't mean he can never enjoy the fatherhood experience.
There are men with Klinefelter syndrome all over the world who have become fathers through adoption, or assisted reproduction procedures using sperm from an anonymous donor. Moreover, there is a very, very small number of Klinefelter males who have managed to become biological fathers. Cutting-edge techniques such as testicular sperm extraction (TESE - in which sperm is taken directly from the testicle with a needle), combined with intracytoplasmic sperm injection (ICSI - whereby the sperm cell is injected directly into an egg harvested from the female) have made it possible for some of these men to have their own children. These treatments are limited in availability, however, and extremely expensive - some would say prohibitively so.
Facing Up To Klinefelter Syndrome
Counseling and support therapies are recommended for men who are diagnosed with Klinefelter syndrome. The condition can challenge a man's sense of his own masculinity and social status. It can also cause relationship problems between men and their partners, especially if there is a strong desire to have children. It's important to keep the lines of communication open between partners and be open-minded about your options for having a family.
Lastly, no one should let fear of being diagnosed with Klinefelter syndrome put him off going for testing and treatment. Treatment of the condition is essential if a man doesn't want to suffer complications from the disorder.