Friday, April 20, 2012

Turner Syndrome


Turner Syndrome

  • Turner syndrome typically affects growth and sexual development. Additionally, people affected by turner syndrome developed as girls. Girls with this disorder are “shorter than normal, and may fail to start puberty when they should. This is because the ovaries fail to develop properly. Women with Turner syndrome appear to have a stocky appearance, arms that turn out slightly at the elbow, a receding lower jaw, a short webbed neck and low hairline at the back of the neck” (“Turner” 1).
  • Turner syndrome is caused by a missing or incomplete X chromosome. Normally, females inherit one X chromosome from their mother and one X chromosome from their father. However, people with this disorder only have one X chromosome. This is caused by nondisjunction where “a pair of sex chromosomes fails to separate during the formation of an egg (or sperm). When an abnormal egg unites with a normal sperm to form an embryo, that embryo may end up missing one of the sex chromosomes… Because these girls only have one X chromosome, these girls are missing important genetic information which controls long bone growth and ovarian development.
  • This disorder is treated with hormone replacement therapy in order to reach normal height and also encourage normal hair and muscle growth. However, the specific types of hormones vary from androgens to estrogen depending on the desired result.
  • This syndrome affects 60,000 females in the United States. 

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