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Klinefelter Syndrome


image: Klinefelter Syndrome

Source: www.ksa-uk.co.uk
Topic: Klinefelter syndrome
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Sort Desciption: As in all human activity, mistakes occur and at times an egg cell or a sperm is formed which carries an extra chromosome. In boys with Klinefelter syndrome this is an extra X chromosome (47,XXY). ...

Content Inside:
The collection of symptoms known as Klinefelter syndrome was first put together in 1942 by a young doctor in Philadelphia called Harry Klinefelter (1) . He described 9 men who had breast development, small testicles with no sperm in their semen, and a blood test revealed raised levels of the factors (gonadotrophins) which try to stimulate the testicles to produce more of the male hormone (testosterone) and greater numbers of sperm.

What causes these problems?

In 1959 it was shown that these changes resulted from the presence of an extra X chromosome in each of the cells of the body in males with Klinefelter syndrome

What are chromosomes?

Chromosomes are minute structures shaped rather like matchsticks and are found in the centre (nucleus) of each cell in our bodies, and they carry the messages which allow us to inherit characteristics from our parents. In humans each cell has 46 chromosomes, 23 from each parent. The chromosomes are made up of thousands of genes which determine many factors in our development, e.g. height, colour of hair and eyes, the shape of our faces, our intelligence to a considerable extent, as well as the risks of getting certain diseases. Two special chromosomes, the X and the Y determine whether a person will be male (XY) or female (XX).

The chromosomes in Klinefelter syndrome

As in all human activity, mistakes occur and at times an egg cell or a sperm is formed which carries an extra chromosome. In boys with Klinefelter syndrome this is an extra X chromosome (47,XXY). An extra X can also be found in some girls, this results in the child having three X chromosomes instead of two, and is known as triple X. The frequency with which Klinefelter syndrome occurs has been shown from surveys of the population to be 1 in 750 male births (3) , so that in Britain around 400 baby boys will be born with the condition each year, although in many this will not be recognised until they are adults. Using modern techniques it has been shown that in approximately half of these cases the mistake has occurred in the mother's egg cell, and in the other half in the father's sperm. Once the mistake has happened it cannot be altered but the effect it will have on the person's health and development can be modified by appropriate treatment.

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