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Turner Syndrome
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?
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
