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Genetic, Chromosomal & Metabolic Conditions

Turner Syndrome

Turner syndrome (TS) is a medical disorder that affects about 1 in every 2,500 girls. Although researchers don’t know exactly what causes Turner syndrome, they do know that it’s the result of a problem with a girl’s chromosomes.

Girls with Turner syndrome are usually short in height. Those who aren’t treated for short stature reach an average height of about 4 feet 7 inches (1.4 meters).

The good news is that when Turner syndrome is diagnosed while a girl is still growing, she can be treated with growth hormones to help her grow taller.

How Does It Happen?

Most girls are born with two X chromosomes, but girls with Turner syndrome are born with only one X chromosome or they are missing part of one X chromosome. The effects vary widely among girls with Turner syndrome. It all depends on how many of the body’s cells are affected by the changes to the X chromosome.

In addition to growth problems, Turner syndrome prevents the ovaries from developing properly, which affects a girl’s sexual development and the ability to have children. Because the ovaries are responsible for making the hormones that control breast growth and menstruation, most girls with Turner syndrome will not go through all of the changes associated with puberty unless they get treatment for the condition. Nearly all girls with Turner syndrome will be infertile, or unable to become pregnant on their own.

Other Effects Turner Syndrome Can Have

A number of other health problems occur more often in girls with Turner syndrome, including kidney problems, high blood pressure, heart problems, overweight, hearing difficulties, diabetes, and thyroid problems. Some girls with the condition may have learning difficulties, particularly in math. Many have a hard time with tasks that require skills such as map reading or visual organization.

In addition to short stature and lack of sexual development, some of the other physical features commonly seen in girls with Turner syndrome are:

  • a “webbed” neck (extra folds of skin extending from the tops of the shoulders to the sides of the neck)
  • a low hairline at the back of the neck
  • drooping of the eyelids
  • differently shaped ears that are set lower on the sides of the head than usual
  • abnormal bone development (especially the bones of the hands and elbows)
  • a larger than usual number of moles on the skin
  • edema (extra fluid) in the hands and feet

Because Turner syndrome can affect how a girl looks and develops, some girls may have problems with body image or self-esteem.

People with TS are all different. Some may have many physical differences and symptoms, whereas other girls experience only a few medical problems. With early and appropriate medical care and ongoing support, most can lead normal, healthy, and productive lives.

Diagnosing Turner Syndrome

Girls with Turner syndrome are usually diagnosed either at birth or around the time they might be expected to go through puberty. If a baby girl has some of the signs of Turner syndrome, a doctor will usually order a special blood test called a karyotype (pronounced: CARE-ee-eh-tipe). The test counts the number of chromosomes and can identify any that are abnormally shaped or have missing pieces.

In some cases, there are no clear signs that a girl has the condition until she reaches the age at which she would normally go through puberty.

If the karyotype blood test shows that a girl has Turner syndrome, her doctor may order additional tests to check for problems with the kidneys, heart, hearing, and other problems that are often associated with Turner syndrome.

Treating Turner Syndrome

Because Turner syndrome is a condition that is caused by a chromosomal abnormality, there’s no specific cure. However, scientists have developed a number of treatments that can, for instance, help with growth problems — and researchers are constantly looking into new forms of treatment.

Growth hormone treatment can improve growth and influence a girl’s final adult height. In fact, in many cases, the treatment can help many girls with Turner syndrome reach a final height in the average range, especially if treatment is started early in childhood.

Another treatment for Turner syndrome is estrogen replacement, which helps the girl develop the physical changes of puberty, including breast development and menstrual periods. This treatment usually starts when a girl is about 12 or 13.

And a technique called in vitro fertilization can make it possible for some women with Turner syndrome to become pregnant. A donor egg can be used to create an embryo, which is then put into the uterus (womb) of the woman with Turner syndrome. With proper supportive care, the woman can carry the pregnancy to term and deliver a baby through the normal birth process.

Living With Turner Syndrome

Although girls with Turner syndrome may have certain learning difficulties, most can attend regular school and classes, and usually:

  • write well
  • learn well by hearing
  • memorize information as well as others
  • develop good language skills

If you have Turner syndrome, you know that it can affect you in several ways. But it’s only a small part of your total physical, emotional, and intellectual self.

Here are some suggestions that can help you cope:

  • Join a support group for girls with Turner syndrome. Ask your doctor or parents for more information or for help finding a Turner Syndrome Society chapter in your area.
  • Stay active in sports or hobbies that you enjoy.
  • Consider doing volunteer work. Helping other people can boost your self-esteem and your confidence, too.
  • Consider talking to a professional therapist. A qualified counselor or other mental health professional can help you build your self-esteem and address your concerns about living with Turner syndrome. Discuss this with your parents if you think you might need help.
  • Keep a journal or diary in which you can record your thoughts and feelings about the challenges you’re dealing with.
  • Talk to your parents or school counselor if you are having problems at school.

If you have a friend who has Turner syndrome, remember to respect her emotional and physical needs. For example, she may not always feel comfortable talking about her condition, so let her share only what she feels OK with.

You also can support your friend just by hanging out and doing things you enjoy together and by being a good listener if she turns to you for advice or comfort.

Reviewed by: Elana Pearl Ben-Joseph, MD
Date reviewed: October 2014
Originally reviewed by: Judith Ross, MD