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Klinefelters syndrome Name and type of genetic disorder Klinefelters syndrome- A relatively common human sex-chromosome disorder 1 per 500 male births Who does it affect Klinefelters syndrom only affects males Does it alter a specific chromosome The majority of Klinefelter individuals have one extra female sex chromosome resulting in an XXY pattern and a total of 47 chromosomes instead of 46 Other less frequent chromosomal patterns include XXXY XXXXY XXYY XXXYY mixtures and partial losses or deletions About 40 percent of the diagnosed examples of Klinefelters syndrome have a normal XY pattern Can it be detected before birth In recent years many XXY males have been diagnosed before birth through amniocentesis or chorionic villus sampling CVS In amniocentesis a sample of the fluid surrounding the fetus is withdrawn Fetal cells in the fluid are then examined for chromosomal abnormalities CVS is similar to amniocentesis except that the procedure is done in the first trimester and the fetal cells needed for examination are taken from the placenta Neither procedure is used routinely except when there is a family history of genetic defects the pregnant woman is older than 35 or when other medical indications are present Symptoms or side effects Klinefelters syndrom is characterized by the following small testes lack of sperm formation late puberty with reduced secondary sexual characteristics but with normal-sized penis usually a delicate and long-limbed physique occasionally breast enlargement gynecomastia and about a 25 percent frequency of mental retardation but a much higher frequency of behavioral difficulties Diabetes mellitus and goitre incidence are more common and various cancers may be more prevalent among Klinefelters syndrome patients Thyroidal trapping of radioactive iodine and the responses of the thyroid to injections of thyrotropin TSH thyroid-stimulating hormone may be low Testosterone production tends to be below normal with urinary 17-ketosteroids in the normal or low-normal range The serum and urinary gonadotropins follicle-stimulating hormone FSH
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