What is Klinefelter's syndrome?

Klinefelter′s syndrome is a genetic condition where the male has an extra X chromosome (XXY) making the total number of chromosomes 47 instead of 46 in healthy males (XY).

This chromosome constitution (karyotype) occurs in 1 in 500, to 1 in1000 live male births. But it is not necessary that people with this syndrome show symptoms. It is usually at the onset of puberty that certain physical traits linked to this syndrome become apparent.

What are the symptoms linked to this syndrome?

Babies and children, with the XXY chromosome, may have weaker muscles and reduced strength. As they grow older, they tend to gain height and are taller than average. When compared to other boys their age, they may have less muscle control and coordination.

The physical traits of the syndrome become more evident at the time of puberty. Since they do not produce as much testosterone as other boys of their age, they have a less muscular lean body, weaker bones, low energy levels, less facial and body hair, and broader hips.

XXY males may even develop breast tissue during their teens. By adulthood, the XXY males look similar to those who do not have the syndrome, but are often taller.

This syndrome manifests and presents differently in adulthood in each case. The variance can be from a wide array of characteristics to showing no signs at all.

How does it affect fertility?

Affected males are often infertile, or may have reduced fertility due a decreased testicular hormone / endocrine function. These men have low levels of testosterone which will affect sperm production in the testis.

Can men with this syndrome have children?

In some cases, men with Klinefelter's syndrome do produce little sperm that can be found in the ejaculate. With those sperms, ICSI or even IVF can be done.

But in the majority of men with this syndrome excessive search for sperm in the testes using (micro) testicular biopsy procedure is required. If sperm is found, an ICSI or IVF procedure can be performed, and they may be able to have children.

What affects their chances of conception by IVF/ICSI?

It should be noted that for male′s with Klinefelter′s syndrome, who were advised to take testosterone orally to avoid bone calcification, which the administration of this hormone can suppress sperm production. That's why it's recommended to consult your fertility physician first.

There is a high chance that the embryos resulting from the IVF-ICSI procedure will be genetically abnormal. That′s why it is recommended to perform PGD (Pre-implantation Genetic Diagnosis) on the embryos before transferring them to the wife, in order to eliminate the transfer of abnormal embryos and to increase the chance of a pregnancy and a healthy baby.

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