Turner Syndrome

What Is Turner Syndrome?

Turner syndrome is a 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 it doesn’t get diagnosed until a female is a teen or young adult.

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

Turner Syndrome Causes

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. The different ways genes can be affected include:

Monosomy. A problem with the mom’s egg or dad’s sperm causes an absence of the X chromosome in every cell of the body.

Mosaicism. When cell division during early stages of fetal development doesn’t happen correctly, some cells in the body get two complete copies of the X chromosome. Other cells have only one copy.

X chromosome abnormalities. Cells have one complete copy and one abnormal or missing copy of the X chromosome.

Y chromosome material. In a few cases, some cells get one copy of the X chromosome and other cells get one copy of the X chromosome and some Y chromosome material. Biologically, you develop as a female. The Y chromosome material increases your risk of a type of cancer called gonadoblastoma.

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

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.

Symptoms of Turner Syndrome

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.

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A DNA test using a blood sample from the mother can also screen for Turner syndrome before birth.

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
  • Heart defects
  • Down-turning eyelids
  • Short roots of teeth
  • Kidney abnormalities
  • Greater than usual number of moles on the skin

In older females, throughout the lifespan, symptoms can continue. They can 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

Turner Syndrome Complications

Beginning at birth and continuing throughout a person’s life, Turner syndrome can be linked with other health conditions. They 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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Turner Syndrome Diagnosis

If an ultrasound shows something abnormal while you’re pregnant, your doctor may want to examine your baby’s chromosomes with a karyotype. This test compares chromosomes by lining them up. To get samples from you, your doctor may recommend:

  • Amniocentesis. This is when protective fluid that surrounds a baby is taken from your uterus.
  • Blood sample. This can help find out whether the baby is missing all or part of an X chromosome.
  • Chorionic villus sampling (CVS). Your doctor removes tissue samples from a portion of the placenta for testing. This test is typically done around 10-12 weeks of pregnancy.
  • Cheek scraping or skin sample. Your doctor may be able to test you using cells scraped from the inside of your cheek (buccal smear), or a sample of skin cells.

If a diagnosis isn’t 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.

Turner Syndrome 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 Arefa Cassoobhoy, MD, MPH on August 11, 2020

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.”

American Family Physician: “Turner Syndrome: Diagnosis and Management.”

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