Klinefelter's Syndrome Research Paper

Klinefelter’s syndrome (KS) is a genetic condition that can be caused when someone, usually male, has two X chromosomes and one Y chromosome giving them forty seven and not the normal forty six chromosomes. Males normally have an X chromosome and a Y chromosome and females normally have two X chromosomes. When either the sperm or the egg has a pair of sex chromosomes doesn’t succeed in separating formation, thus there is an extra chromosome causing the DNA abnormality during fertilization. This extra sex chromosome will copy its abnormal DNA into every cell of the new baby as it develops in utero. In mosaic cases, chromosomes fail to separate when a cell divides in early embryonic development, and only a portion of the baby's cells have the extra X chromosome giving them a mixture. In these cases, symptoms are usually mild and often remain undetected. It is one of the most common genetic conditions and it affects …show more content…
Follicle stimulating hormone (FSH) is elevated in almost one hundred percent of the cases. Elevated levels of luteinizing hormone (LH) and low to normal total testosterone levels may also be present. Other diagnostic tests that can be ordered are estradiol, prolactin, (thyroid stimulating hormone (TSH), fasting blood sugar, and total cholesterol. A complete blood count and bone scan may be ordered to check for anemia and osteoporosis that are also findings of KS (Nieschlag, 2013). Ultrasound is recommended to help identify abnormally small testes in the patient (Goolsby & Grubbs, 2011). Smear testing of the cells in the buccal area can be used to look for Barr bodies that are consistent with the inactive supernumerary X chromosome associated with KS, but is not usually used. Definitive diagnosis can be confirmed by karyotyping (). Karyotyping is an analysis of a patient's chromosomes taken from a blood sample or it can also be done while the woman is pregnant (47, XXY, n.