Turner Syndrome

Kim Ortiz

Turner Syndrome Overview

  • Mostly common in Females
  • The females that have this syndrome are born with it but, it does not really become noticeable until around age 5
  • Shorter than the average female height
  • Tend to have life threatening heart defects, kidney difficulties, ear infections, and thyroid problems
  • Do not really undergo puberty unless they receive the right treatment
  • 30% of females with Turner Syndrome may have a low back hair line, webbed neck, swollen hands and/or feet
  • Females with this Syndrome have normal intelligence although, it is possible to have developmental delays or other difficulties that vary

Treatments for Turner Syndrome

  • Unfortunately, there is no cure for Turner Syndrome
  • However, growth injections that are taken during early childhood years may help increase the height
  • An Estrogen replacement therapy (ERT) can also help speed the process of puberty
  • This treatment also helps prevent bone loss
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How is Turner Syndrome inherited?

  • It is unknown how or if Turner Syndrome is passed on from generation to generation
  • Because of the lack of subjects and technology to test, it is difficult to find the genotype and phenotype
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Symptoms of Turner Syndrome

  • Webbed neck and low hairline at the back of the neck.
  • a widely spaced chest and nipples
  • Arms are slightly turned out at elbows
  • Because of the narrowing of the aorta, there may be a heart murmur present
  • Tend to have high blood pressure
  • Eye glasses can correct the minor problems that may be present
  • About 10% of the teen girls that have Turner Syndrome, have a deformity of the spine

Current Research and Extra Facts

  • 60,000 females in the U.S are affected by Turner Syndrome
  • This syndrome is found in every 1 of 2000 to 2500 baby girls
  • "In 75-80% of cases, the single X chromosome comes from the mother's egg; the father's sperm that fertilizes the egg is missing its sex chromosome."
  • The average height of untreated females with Turner Syndrome is just below 5 feet, at 4 feet 8 inches
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