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Turner Syndrome

Summary

Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don't work properly.

Other physical features typical of Turner syndrome are

  • Short, "webbed" neck with folds of skin from tops of shoulders to sides of neck
  • Low hairline in the back
  • Low-set ears
  • Swollen hands and feet

Most women with Turner syndrome are infertile. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems.

Doctors diagnose Turner syndrome based on symptoms and a genetic test. Sometimes it is found in prenatal testing. There is no cure for Turner syndrome, but there are some treatments for the symptoms. Growth hormone often helps girls reach heights that are close to average. Hormone replacement can help start sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant.

NIH: National Institute of Child Health and Human Development

Start Here

  • (Turner Syndrome Society of the United States)
  • From the National Institutes of Health (National Human Genome Research Institute)
  • (Hormone Health Network) - PDF Also in
  • (Mayo Foundation for Medical Education and Research)
  • From the National Institutes of Health (National Institute of Child Health and Human Development) Also in
  • From the National Institutes of Health (National Institute of Child Health and Human Development) Also in

Symptoms

  • From the National Institutes of Health (National Institute of Child Health and Human Development) Also in

Diagnosis and Tests

  • From the National Institutes of Health (National Institute of Child Health and Human Development) Also in

Treatments and Therapies

  • From the National Institutes of Health (National Institute of Child Health and Human Development) Also in

Living With

  • (Turner Syndrome Society of the United States) - PDF

Genetics

  • From the National Institutes of Health (National Library of Medicine)

Striking laughter

  • From the National Institutes of Health (National Institutes of Health)

Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)

Find an Expert

  • From the National Institutes of Health (National Institute of Child Health and Human Development) Also in
  • (Turner Syndrome Society of the United States)

Children

  • (Nemours Foundation) Also in
  • (Nemours Foundation) Also in

Teenagers

  • (Nemours Foundation) Also in

Patient Handouts