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Klinefelter syndrome

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Klinefelter syndrome

Chromosomal disorder that occurs in one out of 500 males. With an extra X chromosome in each cell (XXY), patients look male, with firm, small testes, but they produce no sperm and may have enlarged breasts and buttocks and very long legs. Testosterone is low and pituitary reproductive hormones high. Intelligence is usually normal, but social adjustment can be difficult. Rarer variants cause additional abnormalities, including intellectual disability. In the XX male syndrome, Y chromosome material has been transferred to another chromosome, causing changes typical of Klinefelter syndrome. All variants are treated with androgens.



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Men with the XXY condition, also called Klinefelter syndrome, show a disorder in language function but have normal spatial abilities, says Charles Netley of Toronto's Hospital for Sick Children.
Early definitive diagnosis for chromosomal abnormalities associated with spina bifida, Down's, Turner, and Klinefelter syndromes, as well as other disorders due to genetic abnormalities, can help physicians better care for both the mother and fetus during pregnancy.
Babies born with Klinefelter syndrome (47,XXY) have normal male genitalia.
 
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