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Klinefelter syndrome





Klinefelter syndrome is a congenital condition (present at birth) that affects about 1 in 1,000 men. Normally the cells in men's bodies have a single X chromosome along with a Y chromosome, while women's cells have 2 X chromosomes. Men with this condition have cells with a Y chromosome plus at least 2 X chromosomes (sometimes as many as 4).
Men with Klinefelter syndrome also have small testicles (smaller than usual). Often, they are unable to produce functioning sperm cells, making them infertile. Compared with other men, they have lower levels of androgens (male hormones) and more estrogens (female hormones). For this reason, they often develop gynecomastia (benign male breast growth).
Some studies have found that men with Klinefelter syndrome are more likely to get breast cancer than other men. One study of men with this syndrome found that the risk of getting breast cancer was about 1%. But this is a hard area to study because these are both uncommon problems, and it is hard to collect enough cases to be sure. The risk seems to be increased, but overall it is still low because this is such an uncommon cancer, even for men with Klinefelter syndrome.

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