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Turner Syndrome

What is Turner Syndrome?

Turner syndrome is a genetic disorder that occurs when a female has a a missing or defective X chromosome. Turner syndrome only affects females.

Turner syndrome is named after Dr. Henry Turner, who was among the first to describe its features in the 1930's.

What causes Turner syndrome?

Turner syndrome is caused by the complete or partial absence of one of the two X chromosomes normally found in women.

Turner syndrome is not associated with any environmental or any other factors generally associated with genetic problems. The incomplete X chromosome appears to be a random event that can happen to anyone.

How is Turner syndrome diagnosed?

The most common tool used to diagnose Turner syndrome is a blood test called a karyotype. A karyotype analyzes the chromosomal composition of the individual.

What are the most common characteristics of Turner syndrome?

The most common symptoms of Turner syndrome are:

  • short stature
  • failure to develop ovaries to develop
  • webbed neck
  • short neck
  • abnormal fingernails and toenails
  • low hairline at neck
  • heart defect
  • kidney or urinary tract defect
  • hearing disorders
  • frequent ear infections in childhood
  • shortening of bones in the hands
  • lower jaw smaller than normal
  • drooping eyelids

Complications of Turner Syndrome

Individuals with Turner syndrome are prone to cardiovascular problems, kidney and thyroid problems, skeletal disorders and hearing and ear disturbances.

Can Turner Syndrome be Treated?

Currently Turner Syndrome cannot be cured. However, treatments can be aimed to minimize the symptoms. Some common treatments are growth hormone and estrogen replacement.

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