Diagnosis And Effects On Fertility Of Klinefelter Syndrome

Klinefelter syndrome is a common genetic disorder that only affects men. Men with this order are born with an additional X chromosome and have small testes. Klinefelter syndrome affects the production of hormone testosterone in men before birth and at the time of puberty. Due to this low level of hormone during puberty male sex organs do not develop fully, which in turn affects the testicle function and sperm production. Lack of testosterone is also responsible for infertility.

There are no specific symptoms of this disease and thus, it is often not noticed until a man starts trying to get his partner pregnant. The only symptom of this ailment is that men suffer from irreversibly infertility. There are more chances of having a child with KS in case women conceive at later stages of their lives.

What is Klinefeltor's Syndrome?

Generally, each cell of body has 46 chromosomes arranged in 23 pairs. These 23 pairs of chromosomes are autosomes, which determine physical features. Along with these autosomes, there is a pair of chromosome, which determines the sex of a child. In this pair, one chromosome is inherited from father and other from mother.

Women have two same kind of sex chromosome (XX) and men have two different types of sex chromosome (XY). Klinefeltor's syndrome is when there is an extra chromosome in males. This syndrome mainly affects boys and men who usually have 47 chromosomes instead of 46.

Diagnosis of Klinefelter Syndrome:

Here are a few of the test used to diagnose KS:

Physical examination: This test is carried out thoroughly, as there are no visible characteristics exhibited by a person suffering from KS. Such people have normal sexual life, but will have fertility problem. Doctor may diagnose by looking for the following physical features:

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  • Lack of facial hair
  • Taller than average height
  • Smaller testicles
  • Presence of feminine features
  • Physical reflexes

Your doctor will also ask a few questions about the sex life and medical history.

Hormone Test: Hormonal imbalance is an indicator of Klinefelter syndrome. To check this, blood test is carried out using the blood sample of a patient.

Chromosome Analysis: This is the final and quite important test to diagnose this genetic disorder. Chromosome analysis, also known as karyotype analysis is carried out to confirm the pre diagnosis, established on the basis of other above mentioned tests.

For this test, another blood sample is required, which is again sent to the laboratory, where an expert counts the number of chromosome and checks their structure and shape. This may take several weeks.

What if the test is positive?

If the tests are positive for KS, then the patient will need some time to absorb this news. To recover from the situation some counseling and therapy could be opted for. However, there are a very few people who become fathers with advanced techniques of fertility. It depends on a couple what they want to do about the problem, and how they choose to become parents.

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