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Klinefelter Syndrome - Online Paper

Klinefelter Syndrome


, also called testicular dysgenesis, is the phenotype of the 47,XXY genotype and is characterized by male hypogonadism and infertility. is probably the most common chromosomal variation found in humans. In random surveys, it is found to appear about once in every 500 to one in every 1,000 live born males. Since the largest percentage of these men would have never been diagnosed otherwise, it shows that in many cases affected individuals lead healthy, normal lives with no particular medical or social questions. is diagnosed through a karyotype; a chromosome analysis usually done on a blood sample.
is caused by a chromosome variation involving the sex chromosomes. The person with is a ...

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extra X. This is and is often written as 47,XXY. There are other, less common variations such as 48,XXYY; 48,XXXY; 49,XXXXY; and XY/XXY mosaic. All of these are considered variants.
The major effect of the extra X chromosome in boys with seems to be the function of the testes. The testes produce the major male sex hormone testosterone and the amount of this hormone may be decreased in boys with . When these boys reach 10-12 years of age, it is helpful to measure their blood hormone levels periodically (e.g., yearly) to see if they are normal. If the testosterone level is low, resulting in diminished sexual changes which boys otherwise undergo during puberty, or if other characteristics are present which seem to point to poor metabolism of the existing hormone levels, then treatment with male sex hormones is usually very beneficial.
The most common form of treatment involves administering depotestosterone, a synthetic form of testosterone, by injection once a month. The dose ...

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PAPER DETAILS
Added: 1/24/2004 03:46:28 PM
Category: Science & Nature
Type: Premium Paper
Words: 912
Pages: 4

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