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Turner Syndrome
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Genetics Birth Defects

Turner Syndrome

Turner syndrome is a genetic disorder affecting a girl's development, appearance, and long-term health, often requiring specialized care and hormone-based treatments.

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, it can cause serious health problems. Most people with Turner syndrome are shorter than average and may 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:

  • Hormone injections: If started in early childhood, these can often increase adult height by a few inches.
  • Estrogen replacement therapy (ERT): Can help start sexual development and 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.

Frequently Asked Questions

The most common heart defect associated with Turner syndrome is coarctation of the aorta, where the main artery from the heart is narrowed. Bicuspid aortic valve, where the valve has two flaps instead of three, is also frequent. Because these conditions can lead to high blood pressure or aortic dissection later in life, patients require regular cardiac monitoring. This usually involves an echocardiogram every one to three years, or more frequently if a defect is detected, to track the health of the heart and aorta.
Individuals with Turner syndrome are at a significantly higher risk for osteoporosis due to low estrogen levels and potential growth hormone effects. To prevent bone loss, it is crucial to maintain adequate calcium and vitamin D intake through diet or supplements. Weight-bearing exercises are also essential for bone strength. Additionally, hormone replacement therapy, which is often started at puberty to induce sexual development, helps maintain bone density. Regular bone density scans, such as DEXA scans, are recommended to monitor bone health over time.
Growth hormone therapy is the primary treatment to improve final adult height in individuals with Turner syndrome. It works by stimulating the growth plates in the bones to allow for more growth. For the best results, treatment typically begins in early childhood, often around age 2 to 4, and continues until the growth plates close, which usually happens in the late teens. The dosage is carefully monitored by a pediatric endocrinologist to ensure safe and effective growth.
Natural conception is rare because most individuals with Turner syndrome have ovarian insufficiency, meaning their ovaries do not produce eggs regularly. However, pregnancy is possible through assisted reproductive technologies such as in vitro fertilization (IVF) using donor eggs. Because individuals with Turner syndrome have a higher risk of aortic dissection during pregnancy, any pregnancy must be closely managed by a multidisciplinary team including a cardiologist and a high-risk obstetrician to ensure the safety of both the patient and the fetus.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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