Klinefelter Syndrome -

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have one X chromosome and one Y chromosome, but sometimes a variation will result in a male with an extra X. This is Klinefelter Syndrome and is often written as 47,XXY. There are other, less common variations such as 48,XXYY; 48,XXXY; 49,XXXXY; and XY/XXY mosaic. All of these are considered Klinefelter Syndrome variants.
The major effect of the extra X chromosome in boys with Klinefelter Syndrome seems to be the function of the testes. The testes produce the major male sex hormone testosterone and the amount of this hormone may be decreased in boys with Klinefelter Syndrome. When these boys reach 10-12 years of age, it is helpful to measure their blood hormone levels periodically (e.g., yearly) to see if they are normal. If the testosterone level is low, resulting in diminished sexual changes which boys otherwise undergo during puberty, or if other characteristics are present which seem to point to poor metabolism of the existing hormone levels, then treatment with male sex ...

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