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
- Learning about Turner Syndrome (National Human Genome Research Institute)
- Turner Syndrome (Hormone Health Network) - PDF Available in Spanish
- Turner Syndrome (Mayo Foundation for Medical Education and Research)
- Turner Syndrome (National Institute of Child Health and Human Development)
- Turner Syndrome: Other FAQs (National Institute of Child Health and Human Development)
Diagnosis and Tests
- Clinical Features of Turner Syndrome (National Institute of Child Health and Human Development)
- How Do Health Care Providers Diagnose Turner Syndrome? (National Institute of Child Health and Human Development)
Treatments and Therapies
- What Are Common Treatments for Turner Syndrome? (National Institute of Child Health and Human Development)
- Turner Syndrome: A Guide for Families (Turner Syndrome Society of the United States) - PDF
- ClinicalTrials.gov: Turner Syndrome (National Institutes of Health)
Journal ArticlesReferences and abstracts from MEDLINE/PubMed (National Library of Medicine)
Find an Expert
- Turner Syndrome (For Teens) (Nemours Foundation)