Klinefelters Syndrome

by Hannah6726
Last updated 5 years ago

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Klinefelters Syndrome

-Klinesfelter Syndrome-

By Hannah Park

What is Klinefelter Syndrome?Klinefelter Syndrome is a spontaneous genetic disorder of males caused by the attainment of an extra X chromosome at conception (genotype XXY instead of the usual XY). It occurs in one in every 500-1000 male births but the rate is up to 20 times higher in newborns with mental retardation, compared with neurotypical 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. By 1959, medical researchers realized the role of the extra X chromosome and confirmed it to be the causative factor.

What causes Klinefelter syndrome?The presence of an extra X chromosome in males most often occurs when the genetic material in the eggs splits unevenly. But it can also occur when the genetic material in the sperm splits unevenly.

What are the symptoms?Many men who have Klinefelter syndrome do not have obvious symptoms. Others have sparse body hair, enlarged breasts, and wide hips. In almost all men the testicles remain small. In some men the penis does not reach adult size. Their voices may not be as deep. They usually cannot father children.

How is Klinefelter syndrome diagnosed?Klinefelter syndrome usually is not diagnosed until the time of puberty. At this point, the boy's testicles fail to grow normally and you may start to notice other symptoms.To find out if your son has Klinefelter syndrome, your doctor will ask questions about his past health, do a physical exam, and order a chromosome test called a karyotype.Klinefelter syndrome can be detected before birth (prenatally) through genetic tests on cells collected from amniocentesis or chorionic villus sampling (CVS). But this is not routinely done. In adult men, lab tests in addition to a karotype may be done, such as hormone tests or a semen analysis, if Klinefelter syndrome is suspected.

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How is it treated?Males with Klinefelter syndrome can be given testosterone, a hormone needed for sexual development. If treatment is started around the age of puberty, it can help a boy have more normal body development.Testosterone is given by injection or through a skin patch or gel. The treatment usually continues throughout a man's life but does not help infertility. Speech therapy and educational support can help boys who have language or learning problems. Most men with this syndrome are unable to get a woman pregnant. However, an infertility specialist may be able to help. A special doctor called an endocrinologist may also be helpful.

Bibiography 1) Klinefelter Syndrome Symptoms, Causes, and Treatment. WebMD. WebMD, n.d. Web. 12 Feb. 2014. 2) “Klinefelter Syndrome,” Kids Health. Np., n.d. Web. 12. Feb. 2014 3)Klinefelter Syndrome Causes, Symptoms, Diagnosis, and Prognosis Information - MedicineNet. MedicineNet. N.p., n.d. Web. 12 Feb. 2014. 4)Klinefelter Syndrome. Wikipedia. Wikimedia Foundation, 22 Apr. 2014. Web. 23 Apr. 2014. 5) Klinefelter Syndrome.- Genetics Home Reference. N.p., n.d. Web. 19 Apr. 2014. 6) Klinefelter's Syndrome: MedlinePlus. U.S National Library of Medicine. U.S. National Library of Medicine, n.d. Web. 10 Apr. 2014.

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