Turner Syndrome

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• Symptoms
• Diagnosis and Tests
• Treatments and Therapies

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Summary

What is Turner syndrome?

Turner syndrome is a genetic disorder that affects a girl's development and appearance. It can also cause health problems such as infertility and heart problems.

What causes Turner syndrome?

Turner syndrome happens because of a problem with a chromosome. Chromosomes are tiny "packages" in your cells that contain your genes. Genes carry information, called DNA, that controls what you look like and how your body works. Normally, girls receive one X chromosome from each parent. Turner syndrome happens when one of the X chromosomes is partially or completely missing.

What are the symptoms of Turner syndrome?

Turner syndrome can cause many different symptoms. The symptoms may be mild for some people. But for others, Turner syndrome can cause serious health problems.

Some of the symptoms of Turner syndrome affect a person's appearance. Most people with Turner syndrome are shorter than average. They may also have physical features such as:

• A neck that is short and has extra skin (a "webbed" neck)
• A low hairline in the back
• Low-set ears
• Swollen hands and feet

People with Turner syndrome may be born with heart and kidney defects. They usually don't have typical sexual development and are infertile. They are also at risk for other health problems such as high blood pressure, type 2 diabetes, osteoporosis, and thyroid problems.

How is Turner syndrome diagnosed?

Health care providers diagnose Turner syndrome based on symptoms and a genetic blood test called a karyotype test. Sometimes it is found in prenatal testing.

What are the treatments for Turner syndrome?

There is no cure for Turner syndrome, but there are treatments for some of the symptoms:

• If they are started in early childhood, hormone injections can often increase adult height by a few inches
• Estrogen replacement therapy (ERT) can help start sexual development. It also protects against bone loss
• Assisted reproduction technologies can help some women with Turner syndrome get pregnant

People who have Turner syndrome need regular health checks. It's also important for them to have a care team that includes specialists who can treat the health problems caused by Turner syndrome.

NIH: National Institute of Child Health and Human Development

Start Here

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

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: Turner Syndrome and the Thyroid Function-A Systematic and Critical Review.
• Article: Gene expression analysis of ovarian follicles and stromal cells in girls...
• Article: A single-center's uric acid profile in girls with Turner syndrome.
• 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