Turner Syndrome

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Basics

• Summary
• Start Here
• Symptoms
• Diagnosis and Tests
• Treatments and Therapies

Learn More

• Living With
• Genetics

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Research

• Clinical Trials
• Journal Articles

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• Children
• Teenagers
• Patient Handouts

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

• About Turner Syndrome (Turner Syndrome Society of the United States)
• Learning about Turner Syndrome (National Human Genome Research Institute)
• Turner Syndrome (Mayo Foundation for Medical Education and Research)
• Turner Syndrome (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish
• Turner Syndrome: Other FAQs (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

Symptoms

• What Are the Symptoms of Turner Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

Diagnosis and Tests

• How Do Health Care Providers Diagnose Turner Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

Treatments and Therapies

• What Are Common Treatments for Turner Syndrome? (Eunice Kennedy Shriver National Institute of Child Health and Human Development) Also in Spanish

Living With

• Turner Syndrome: A Guide for Families (Turner Syndrome Society of the United States) - PDF

Genetics

• Turner syndrome: MedlinePlus Genetics (National Library of Medicine)

Clinical Trials

• ClinicalTrials.gov: Turner Syndrome (National Institutes of Health)

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

• Article: Trends and outcomes of fertility preservation for girls, adolescents and young...
• Article: Hyperglycemia in Turner syndrome: Impact, mechanisms, and areas for future research.
• Article: Immunological evaluation of young unvaccinated patients with Turner syndrome after COVID-19.
• Turner Syndrome -- see more articles

Find an Expert

• Eunice Kennedy Shriver National Institute of Child Health and Human Development Also in Spanish

Children

• Turner Syndrome (For Parents) (Nemours Foundation) Also in Spanish
• X-Ray Exam: Bone Age Study (For Parents) (Nemours Foundation) Also in Spanish

Teenagers

• Turner Syndrome (For Teens) (Nemours Foundation) Also in Spanish

Patient Handouts

• Turner syndrome (Medical Encyclopedia) Also in Spanish