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klinefelter's syndromeKlinefelter’s Syndrome is a chromosomal condition characterised by little or no sperm cells in the semen. Klinefelter’s Syndrome is caused if the man has an extra X-chromosome (XXY instead of XY). In many cases, the testicles are still producing sperm. However because it is a hereditary disorder, affected men will be advised to consult a genetic specialist before trying to start a family. The reason for this is that some of the sperm will also pass on an extra X-chromosome, which means that the child could inherit the same disorder as the father. A chromosome test of the embryos - preimplantation genetic diagnosis - is one of the options that can make it possible to have healthy children. symptomsA man with Klinefelter’s Syndrome cannot always be recognised directly. There is often breast formation (gynaecomastia). Various physical symptoms, such as small testicles and the size of the penis, can indicate the presence of Klinefelter’s Syndrome. The combination of fertility problems and deficient hormone levels in the blood (excessive gonadotropins hormones that stimulate the function of the testicles in men) are the most major indicators of the condition. As a young boy, the man may have been tall and thin, and a slow learner.causeKlinefelter’s Syndrome is a genetic condition, which means that a man inherits it from his parents. It is caused by an extra X-chromosome (XXY instead of XY). If the man’s mother was older in age, this can increase the chances of having this syndrome, but the cause is just as often found in his father.treatmentAlthough a defect in the hereditary material cannot be corrected treatments can be given to increase the fertility of the man. In these treatments, the stress is on obtaining sperms that can be used in assisted reproduction procedures such as intracytoplasmic sperm injection - (ICSI). If this is not possible, donor sperm may be another option. Overall, 7% of infertile males have some form of chromosomal defect. In 10-15% of men with azoospermia there is a defect, compared with 5% of men with oligospermia (a small number of sperms) and only 1% of men with normal sperm counts. Two-thirds of these chromosomal defects are Klinefelter’s Syndrome. |
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