Turner Syndrome

By Nick Eshghy

Overview

Turner syndrome is where a girl/woman is completely or partially missing an x chromosome which alters their development.

Symptoms

Before Birth


  • Abnormal fluid collection expecially in the back of the neck
  • abnormalities with the heart\
  • abnormal kidneys

At Birth


  • Wide neck (weblike)
  • smaller lower jaw
  • high narrow palate (roof of mouth)
  • ears set lower than usual
  • hairline in back of head that is lower than usual
  • short fingers and toes
  • arms that turn outward at elbows

Treatments

Estrogen therapy

  • Estrogen therapy is therapy that helps start puberty

Growth hormones

  • Growth hormones are recommended because how the girls/women that have turner syndrome are shorter than normal and growth hormones are used to increase height at appropriate times (usually during the teen years).

Current Reasearch

Recently discovered about turner syndrome


  • Aortic dilation can come from turner syndrome
  • Patients who have turner syndrome need to be treated quickly because most die within four to six years
  • there is reasearch in developing treatments that would ease shortness of breath, difficulty breathing, swollen extremities, and extreme fatigue
  • Heart related issues also can come from turner syndrome

Turner syndrome is not usually inherited

Turner syndrome is not usually inherited. The cause of Turner syndrome is not known but is believed to be a random error in the reproduction or either the sperm or egg.

Tests

If a doctor suspects someone to have Turner syndrome they will conduct a blood test called karyotype which allows a specialist to count and judge the chromosomes in the sample.

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