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Klinefelter Syndrome Research Paper

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Klinefelter syndrome is a genetic disorder where a male possesses an extra X chromosome on a XY background. This is caused by nondisjunction during meiosis which means that the chromosomes do not split properly. This syndrome clinically presents with tall stature, low testosterone, hypogonadism, delayed puberty and gynecomastia. It occurs in 1 out of every 1000 male births which is .1-.2% of the population. Diagnosis which is done by karyotyping is not usually done until puberty because most symptoms are mild until sexual maturity. The prognosis is good but the male may have an increased incidence of many disorders.

In 1942 Dr. Harry Klinefelter and Dr. Fuller Albright were working at Massachusetts General Hospital when a patient named George Bland came into the hospital with symptoms including Gynecomastia, hypogonadism, tall stature, low testosterone, high FSH, and high LH. They had 9 other patients with the same or similar symptoms. Due to the abnormalities in hormone levels it was thought to be caused by an endocrine disorder. (Harry, K 1986) However in 1959 the XXY chromosomal abnormality was found to be the cause. The doctors then realized that the disease wasn’t endocrine but chromosomal even though it …show more content…
In normal meiosis the chromosomes double and then split in meiosis 1 causing 2 XY cells then in meiosis 2 the cell splits again causing 4 gametes each with 1 chromosome, two X and two Y cells. In Klinefelter syndrome during meiosis 1 there is non-disjunction which means the chromosomes didn’t split properly leaving 1 cell with 4 chromosomes and one with no chromosomes. At the end this creates 2 gametes with XY and two blank gametes. (Chen, H 2013) When this gamete with XY meets with an X egg it creates the Klinefelter male. Klinefelter syndrome affects many systems of the body including the endocrine, reproductive, neurological, skeletal and muscular

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