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In 1942 Dr Harry Klinefelter and his co-workers published a study about nine men who had enlarged breasts, sparse facial and body hair and small, firm, infertile testes. By the late 1950s other researchers discovered that men with Klinefelter's Syndrome had an extra sex chromosome giving 47XXY instead of the more usual 46XY.
Based on studies in the US in the 1970s it appears that KS is one of the more common genetic abnormalities affecting from 1 in 500 to 1 in 1000 live births.
Women usually inherit two X chromosomes - one from each parent. Men inherit an X from their mothers and a Y from their fathers. However the cell division process that occurs in the cells destined to become eggs and sperm occasionally gives rise to an egg with two X's or a sperm with both an X and a Y.
This gives two chances to produce an XXY male. Either an XY sperm fertilises an X egg or a Y sperm fertilises an XX egg.
They're the numbers of chromosomes. Human cells have 23 pairs of chromosomes, 46 in total. Men with KS have an extra X making 47. There are other less common variations; for example 48XXXY or 49XXXXY. There is also a mosaic type where some body cells are 46XY.
Boys with or without KS tend to look very similar, but when puberty occurs the testes remain small and this persists into adult life. Infertility is usual and a lack of libido is likely. Some breast development is possible. A KS male may develop a pear-shaped body.
Men with KS tend to be tall but their limbs are disproportionately long compared with their bodies. Many also have big feet and obviously have problems getting clothing to fit.
Body hair may fail to appear and facial hair rarely attains the level that feelings of masculinity may desire.
Boys developing these characteristics are often teased at school and this may give rise to a boy 'turning off' and exhibiting behavioural problems.
Many of these characteristics, but not the height or infertility, may be relieved by Testosterone Replacement Therapy given from puberty onwards. The level should be determined by the Endocrinologist.
Where insufficient testosterone is present, bone density may be reduced when the body fails to lay down sufficient calcium and this may give rise to bone disease such as osteoporosis. For this reason all KS males should request Bone-Density Scans at least every two years.
Go to your GP. He or she will probably refer you to an endocrinologist and/or arrange a chromosome test.
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Date of last review 02/04/14
Date of next review 02/04/17
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