What Is Turner Syndrome?

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Turner syndrome is a genetic condition that causes certain physical characteristics, such as very short stature, infertility, and an increased risk of other medical problems. Turner syndrome only affects genetic females, not genetic males. It occurs in populations all over the world, and about one female in 2,500 is born with the syndrome. The condition was named for the American physician Henri Turner, who first described its symptoms in 1938.

Turner Syndrome Symptoms

The symptoms of Turner syndrome affect many systems of the body.

Physical Characteristics

Turner syndrome can cause certain physical characteristics. Some of these are:

  • Short height (extremely common)
  • Wide chest
  • Skin fold that runs along the sides of the neck (“webbed” neck)
  • Knock knees
  • Malformed nails

Reproductive Health

People with Turner syndrome almost always have problems related to reproductive health. They may have delayed puberty and may not have menstrual periods if they don't take supplementary hormones.

Some experience premature ovarian failure, in which the ovaries stop producing estrogen and releasing eggs before menopause should normally happen. Most people with Turner syndrome cannot get pregnant naturally without the help of assisted reproductive technology.

Congenital Kidney or Heart Issues

People with Turner syndrome also have an increased risk of congenital problems with abnormally formed kidneys. This might cause problems with repeated urinary tract infections.

Usually, more concerning are the potential cardiovascular problems. Some of these include high blood pressure, bicuspid aortic valve, narrowing of the aorta, and aortic dilation. Aortic dissection is another rare complication. This rip in the aorta, one of the body's most important arteries, is often fatal.

Most people with Turner syndrome lead long lives. But these issues, along with other complications, do increase the risk of early death in people with the condition.

If you have Turner syndrome, know the potential symptoms of aortic dissection, so you can seek immediate medical attention. It can cause belly pain, a heartburn-like sensation, back or shoulder pain, or vocal changes (due to irritation of a nerve). If you have chest pain for over 30 minutes, you should go to the emergency department, even if the pain is mild.

Cognitive Issues

Most people with Turner syndrome have normal intelligence. However, they may have subtle issues with visual-spatial and math skills, and they are also at higher risk of attention deficit disorder. Some children may struggle socially. Anxiety and depression may also be an issue.

Other Potential Problems

Turner syndrome also increases the risk of certain autoimmune diseases, including hypothyroidism, celiac disease, inflammatory bowel disease, and type 1 diabetes. Hearing loss and eye problems are also possible, as are osteoporosis and scoliosis.

Causes

Turner syndrome is a genetic condition. It is caused by a random error as the genetic material is copied from one cell to a new cell. This might happen before conception or very early in prenatal development.

Turner syndrome is not caused by anything the parents did or did not do. Scientists don’t know of any factors that increase the risk of having a baby born with Turner syndrome. Even though it is a genetic condition, most of the time Turner syndrome is not inherited. It is just due to a random mutation.

Chromosome Abnormality

Humans inherit 46 chromosomes—a set of 23 from each parent. These chromosomes each contain different genes, the inherited DNA that contains information about how to build specific proteins in the body.

A person’s biologic sex is determined by the inheritance of two specific chromosomes: the X and Y chromosomes. A typical genetic male has an X and a Y chromosome, and a typical genetic female has two different X chromosomes.

Many people are familiar with another genetic syndrome, Down syndrome, in which an individual inherits an extra copy of chromosome number 21. In Turner syndrome, the issue is a missing chromosome. In this case, the person doesn’t inherit two complete X chromosomes. Instead, the child inherits only one working X chromosome (and no Y chromosome). Or the child inherits one working X chromosome (and no Y chromosome) and only part of a second X chromosome.

This might be true in all the cells of the body, or it might only be true for a portion of them. If a person has this issue in only some of their cells, this is called “mosaic Turner syndrome.” These individuals tend to have less severe symptoms.

The missing X chromosome causes problems because some of the genes normally present on that missing X chromosome can’t function. For example, the reduced height of women with Turner syndrome seems to be due to a gene on the X chromosome called “SHOX.”

Because of the problem with the X chromosome in Turner syndrome, the ovaries don’t form normally and they are often unable to produce enough estrogen. This can lead to some of the problems related to reproductive health.

Diagnosis

Medical history and physical exam are the starting points for diagnosis. Ideally, diagnosis should happen as soon as possible, so that individual can be referred to specialists experienced in Turner syndrome.

Turner syndrome is sometimes diagnosed prenatally, via chorionic-villus sampling or amniocentesis. Sometimes an individual will have physical characteristics that lead a clinician to think of Turner syndrome. Other times, Turner syndrome might be a concern because of an issue like a heart malformation.

Many individuals with Turner syndrome are only diagnosed in childhood or adolescence, when they are seen by a clinician for their short height. Some people with mild symptoms from Turner syndrome, especially those with mosaic Turner syndrome, may not be diagnosed until adulthood. This might happen when investigating why a woman has lost more than one pregnancy.

Genetic testing is necessary to confirm a diagnosis. This requires taking a blood sample. Lab technicians then perform karyotyping, a lab test that provides information about a person’s chromosomes. Usually, this test is enough to confirm Turner syndrome, but sometimes other genetic tests are needed, perhaps taken from a different type of tissue, like a skin sample.

Assessment of Complications

Once a diagnosis of Turner syndrome has been made, it is key to check for some of the medical problems that can come along with it. This may include specific laboratory and imaging tests such as the following:

  • Blood tests for thyroid problems (like TSH)
  • Blood tests for celiac disease
  • Blood tests for kidney problems
  • Blood tests for diabetes
  • Imaging tests to check the heart, like echocardiogram
  • Imaging test for an enlarged aorta
  • Imaging test to check the kidneys

Individuals with Turner syndrome also need regular eye and ear exams as well as regular checks for scoliosis. It’s also helpful to work with an educational professional and get tested for potential learning differences.

Treatment

The management of Turner syndrome addresses its impacts on various body systems.

Hormone Treatments

Growth hormone treatment is a mainstay of treatment for Turner syndrome. It is a naturally occurring substance produced in the brain’s pituitary gland. Normally, growth hormone is released by the body to help trigger children’s physical growth (among other functions). In Turner’s syndrome, taking synthetically produced growth hormone can help people achieve a more typical height.

Growth hormone treatment might be started as early as 4 to 6 years of age. Growth should be regularly monitored during this time, and the dose of growth hormone can be adjusted accordingly. It can be stopped when an individual has reached their adult height.

Estrogen is also an important part of therapy for most people with Turner syndrome, usually beginning around age 12. These hormones can help start breast development and the other physical changes of puberty. Estrogens also have other important functions, like helping prevent osteoporosis. These might be taken orally or through a patch applied to the skin.

Estrogens are usually paired with another important reproductive hormone, progestins. They can help a woman start having menstrual cycles. They are usually added a year or two after estrogen therapy. Estrogens and progestins are continued until around the age a woman would normally be experiencing menopause.

Fertility Treatments

Although most women with Turner syndrome are infertile, a small percentage may have some viable eggs. Other women may be able to give birth with the help of donor eggs or embryos. It’s a good idea to work with a fertility expert early on—even in childhood—to explore the potential options.

However, the safety of pregnancy needs to be carefully evaluated before a woman with Turner syndrome tries to get pregnant. For example, it may be important to get screened for an enlarged aorta that might be at risk of a life-threatening tear ("dissection"). Turner syndrome carries an increased risk of complications for both mother and baby, and for some women this risk may be too high.

Psychological and Educational Supports

It may also be helpful to see a specialist for psychological and school-related issues. Some individuals may benefit from academic support. Cognitive behavioral therapy or other psychological treatments can help some. Medications are also sometimes useful, like antidepressant medications for depression or stimulant medications for ADHD.

Other Treatments

Other issues from Turner syndrome may require individualized treatment as well, e.g., thyroid hormone for thyroid disease, bracing for scoliosis, heart surgery for congenital heart disease, etc.

To address these varied health issues, the treatment of Turner syndrome usually requires working with a multidisciplinary team of medical specialists.

Coping

The Turner Syndrome Society of the United States is one of the organizations that provide support to people with Turner syndrome and their families. These groups help individuals share resources and coping strategies. It is easier than ever to connect with individuals who have experience with the condition.

A Word From Verywell

Turner syndrome is a lifelong medical condition that can cause some serious medical issues. It is understandable to experience a sense of loss when you learn that someone you love has Turner syndrome. However, these individuals can lead very full and long lives. Learning all you can about Turner syndrome will help you make best use of your available resources. 

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