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
- 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
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
- Turner Syndrome: A Guide for Families (Turner Syndrome Society of the United States) - PDF
- Turner syndrome: MedlinePlus Genetics (National Library of Medicine)
- ClinicalTrials.gov: Turner Syndrome (National Institutes of Health)
Journal Articles References and abstracts from MEDLINE/PubMed (National Library of Medicine)
- Article: Fracture risk, underlying pathophysiology, and bone quality assessment in patients with...
- Article: Population Prevalence, Cancer Risk, and Mortality Risk of Turner Syndrome in...
- Article: The long-term growth, cost-effectiveness, and glycemic effects of growth hormone therapy...
- Turner Syndrome -- see more articles