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Underlying Causes of Klinefelters Syndrome
The usual pattern chromosomal pattern in a "normal" man is 44 autosomes [chomrosomes not associated with sex] + one X chromosome and one Y chromosome. ...
In the case of a man with Klinefelters Syndrome, the defining genetic difference is that the person has at least two X chromosomes PLUS at least one Y chromosome. ...
What the Label Means
Klinefelters is a genetic "syndrome." A syndrome is a convenient label used for people who show a particular constellation of symptoms. In this case, the underlying genetic cause is seen by medical professionals as equivalent to having the syndrome. ... However, it is possible to have one or more of the "symptoms" of the syndrome (more about those below) without having KS. Klinefelters Syndrome is not a disease, you cant catch it, and other family members are usually normal.
Symptomless Syndrome
When medical professionals discuss the syndrome, they are usually referring to the classic case, in which there are many clear symptoms. ... The syndrome can be very mild, in which case the person may appear to be 44+XY (normal), or it may be pronounced. Some people have so few symptoms -- usually because treatment was begun at a young age, but sometimes because they have only very mild expression of the KS classic traits -- that they prefer to think of themselves as being genetically different from the norm but without the syndrome. ... The degree of mosaicism can affect the expression of the syndrome. ... Not everyone with 44+XXY has the full-blown "classic" Syndrome, any more than people with HIV all have full-blown AIDS. ... In other cases, KS is expressing itself less dramatically, so the syndrome was not clearly obvious, or there was no investigation despite some syndrome symptoms (its easy to assume that a male has a low frustration tolerance and language problems just because hes a boy - males are not expected to do as well either in terms of general behavior or language processing as girls are by many sets of parents), and the KS discovery came in adulthood
Men with KS are not doomed to have to experience all these symptoms.
Approximate Word count = 2423
Approximate Pages = 9.7
(250 words per page double spaced)
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