Klinefelter Syndrome Test

Klinefelter syndrome is the most common genetic problem affecting men. Basically, men who have the disorder are born with an extra X chromosome. The main effect of this is that Klinefelter men are almost always irreversibly infertile. This is because Klinefelter syndrome affects production of the male hormone testosterone, which in turn affects testicle function and sperm production.

This is, of course, a devastating diagnosis for a man who wants to have kids, but there are other ways to become a parent, such as sperm donation or adoption. Klinefelter symptoms may be very subtle, so a man often may not notice that he has the condition until he starts trying to get his partner pregnant. A number of tests are used to diagnose Klinefelter syndrome, including physical exams, blood tests and chromosome analysis.

Physical Examinations

A physical exam to diagnose Klinefelter syndrome will be very thorough. Many men with the syndrome may exhibit almost no symptoms. In fact most of them will have absolutely normal sexual function, apart from the fertility problem. However, the doctor will look for the following physical characteristics:

- Taller than average height

- Smaller than average testicles

- A lack of facial hair

- The presence of other feminine-type features (for example, an enlarged breast area)

- Physical reflexes

The doctor will also check mental functioning, and sexual functioning, and will ask questions about the patient's sex life, as well as his about his family's medical history.

Hormone Tests

Unusual levels of certain hormones can be an indicator of Klinefelter syndrome. Checks for hormonal imbalances are carried out by means of blood tests. The blood samples are sent off to as laboratory where the hormone levels in the blood are examined.

Chromosome Analysis

Chromosome testing, also called karyotype analysis, is usually the final phase in providing a diagnosis of Klinefelter syndrome. In fact, this test must be carried out in order to confirm any provisional diagnosis which may have been established on the basis of the other tests mentioned above. Another blood sample will be required. This is sent off to a laboratory where an expert will count the number of chromosomes and check their shape and structure. This process often takes several weeks.

If The Tests Are Positive

A man who receives a positive diagnosis of Klinefelter syndrome will probably need some time to absorb the news. Although there is a very, very small number of Klinefelter males who have become fathers thanks to new fertility treatment techniques such as ICSI, the vast majority of men with this condition must learn to accept that they will never be biological parents.

It may help psychologically to read up about the condition and to be as informed as possible. Some counseling or therapy may also be required. Then of course, there's the question of whether or not a couple wants to continue to pursue their dream of having a family. Most will want to do just that - therefore the next challenge is to decide how they want to proceed.

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