Klinefelter Syndrome Research Paper

Klinefelter Syndrome is a genetic disorder of males caused by the attainment of an extra X chromosome at conception. It occurs in one in every 500-1000 male births but the rate is up to 20 times higher in newborns. It was first discovered in 1942 by a doctor named Klinefelter who published case reports of nine men who had breast enlargement, a lack of facial and body hair, smaller than average testicles and an inability to produce sperm. There are medical researchers that realized the role of the extra X chromosome and confirmed it to be the causative factor. Treatments for males with klinefelter is Testosterone replacement therapy- To help stimulate changes that normally occur at puberty such as developing a deeper voice, growing facial hair etc. Speech and physical therapy- To help boys …show more content…
Some boys and teenagers have language and learning problems, low energy levels, after puberty and difficulty expressing feelings and thoughts or socializing. Also in babies they have weak muscles, problems at birth, slow motor development and delay in speaking. Klinefelter syndrome can increase risks of anxiety and depression, weak bones, lung disease, fertility problems, heart and blood vessel disease, endocrine conditions, breast cancer and autoimmune disorders. The tests that doctors would use to diagnose if u have klinefelter syndrome is by hormone testing- Blood and urine samples can reveal abnormal hormone levels that are signs of klinefelter. And by chromosome analysis- a blood sample is sent to the lab to check the shape and number of chromosomes which is also known as karyotype analysis. There is a small percentage of males that are diagnosed with klinefelter syndrome before birth. It might be identified after a pregnant woman has a procedure to examine fetal cells that are drawn from the amniotic