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Back to Health A to Z. Chromosomes are packages of genes found in every cell in the body. There are 2 types of chromosome, called the sex chromosomes, that determine the genetic sex of a baby. These are named either X or Y. The X chromosome is not a "female" chromosome and is present in everyone.
The presence of a Y chromosome denotes male sex. Boys and men with Klinefelter syndrome are still genetically male, and often will not realise they have this extra chromosome, but occasionally it can cause problems that may require treatment. Klinefelter syndrome does not usually cause any obvious symptoms early in childhood, and even the later symptoms may be difficult to spot.
Many boys and men with Klinefelter syndrome will not be significantly affected and can live normal, healthy lives. Infertility tends to be the main problem, although there are treatments that can help. But men with Klinefelter syndrome are at a slightly increased risk of developing other health problems, including:.
These problems can usually be treated if they do occur and testosterone replacement therapy may help reduce the risk of some of them. This chromosome carries extra copies of genes, which may interfere with the development of the testicles and mean they produce less testosterone male sex hormone than usual. The extra genetic information may either be carried in every cell in the body or it may only affect some cells known as mosaic Klinefelter syndrome.
Klinefelter syndrome is not directly inherited — the additional X chromosome occurs as a result of either the mother's egg or the father's sperm having the extra X chromosome an equal chance of this happening in either , so after conception the chromosome pattern is XXY rather than XY. This change in the egg or sperm seems to happen randomly. If you have a son with the condition, the chances of this happening again are very small.