What Is Turner Syndrome?

Turner syndrome is rare genetic disorder that’s found only in girls. It can cause problems ranging from short height to heart defects. Sometimes, the symptoms are so mild that women don’t get a diagnosis until they are teens or young adults.

The condition can cause symptoms throughout your life, but treatments and continued research help people manage their condition.

What Causes It?

Turner syndrome happens when a female is missing certain genes that are normally on the X chromosome. (Females have two X chromosomes. Males have an X and a Y).

Some girls with Turner are actually missing a whole copy of the X chromosome. For others, just part of one containing the particular set of genes is missing.

Research has found that almost 99% of babies missing the chromosome are miscarried. But about 1% of the time, these babies are born, and they have the syndrome.

About 70,000 U.S. women and girls live with it.

Symptoms

Signs of Turner syndrome can start even before birth, and they give parents some idea that their baby might be born with the condition. An ultrasound of a baby with it may show heart and kidney problems or a buildup of fluid.

At birth or during infancy, girls might have a number of physical features that point to the condition. Swollen hands and feet or smaller than average height at birth are among them. Others include:

  • A wide or weblike neck with extra folds of skin
  • Receding or small lower jaw and a high, narrow roof of the mouth (palate)
  • Low-set ears and a low hairline
  • Broad chest with widely spaced nipples
  • Arms that turn outward at the elbows
  • Short fingers and toes and narrow fingernails and toenails
  • Delayed growth

In older females, throughout the lifespan, symptoms can continue, and may include:

  • No growth spurts at expected times in childhood
  • A shorter height than might be expected based on parents’ height
  • Learning disabilities
  • Inability to go through puberty normally (because of ovarian failure)
  • Loss of menstrual cycles
  • Infertility

Complications

Beginning at birth and continuing throughout a person’s life, Turner syndrome can be linked with other health conditions, including heart, kidney, immune, and skeletal problems. Problems might include:

Women with Turner have trouble conceiving. If you’re able to become pregnant, high blood pressure and gestational diabetes might be issues.

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Diagnosis and Testing

If an ultrasound shows something abnormal while you’re pregnant, your doctor may want you to get an amniocentesis. This is when protective fluid that surrounds a baby is taken from the uterus. Your doctor also may order a test of maternal blood. This can help find out whether the baby is missing all or part of an X chromosome.

If a diagnosis is not made before or at birth, other lab tests that check hormones, thyroid function and blood sugar can help diagnose it.

Because of the problems linked to Turner syndrome, doctors will also often suggest tests for the kidneys, heart, and hearing.

Treatments

Medical care often calls for a team of specialists that’s built around the specific needs of each person, because the cases vary so widely.

There’s no cure, but most girls will take the same main therapies during childhood and the teen years. These are:

  • Growth hormone , given as an injection a few times a week, to increase height as much as possible.
  • Estrogen therapy, beginning around the time of puberty until a woman reaches the average age of menopause. This hormone treatment can help a woman grow and reach adult sexual development.

Almost all women with the condition need fertility treatments to become pregnant. And carrying a child can come with health risks. If you have Turner syndrome, you should discuss those issues with your doctor.

WebMD Medical Reference Reviewed by Dan Brennan, MD on September 28, 2016

Sources

SOURCES:

National Institutes of Health-U.S. National Library of Medicine Genetics Home Reference: “Turner Syndrome,” “X chromosome.”

Turner Syndrome Society of the United States: “About Turner Syndrome.”

Medscape: “Turner Syndrome.”

Mayo Clinic: “Turner Syndrome.”

National Organization for Rare Disorders, “Turner Syndrome.”

American Thyroid Association, “Hypothyroidism.”

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