Turner Syndrome

What is Turner syndrome?

Turner syndrome (TS) is a genetic disorder that causes problems with growth and health. This condition occurs only in females.

What is the cause?

Our bodies are made up of cells. Inside the cells are tiny structures called chromosomes. Every normal cell contains one pair of sex chromosomes. Usually, males have one X and one Y chromosome and females have two X chromosomes. In girls with Turner syndrome, one of the X chromosomes is damaged or missing. No one knows why the second sex chromosome is lost. Not having the second X chromosome causes these girls to have certain problems with growth and health.

What are the symptoms?

A short height is very common. Only about 5% of girls with TS will reach a normal height. Other symptoms vary from person to person and may include:

• Ovaries and breasts that do not develop
• High arched palate in the mouth and speech problems
• Hearing problems
• Crossed eyes
• Ear infections
• A very thick or webbed neck
• Narrow fingernails and toenails that point upward

Nearly all females with TS have problems with fertility. Problems with the heart, kidneys, thyroid gland, and bones are common. Some girls with Turner syndrome have learning disabilities. Turner syndrome is not a cause of intellectual disability, which used to be called mental retardation.

How is it diagnosed?

TS may be diagnosed before a child is born with a chorionic villus sampling (CVS) or amniocentesis. These tests can check the baby’s chromosomes. TS may be diagnosed when a child is a few months old if she has symptoms. Girls who do not grow normally or who do not develop during puberty may have a special test to check their chromosomes.

How is it treated?

Hormone treatments will help your daughter grow taller, and help with bone and sexual development. Medicine and medical procedures may help women who want to have a child.

Girls and women with TS should have regular physical exams. Problems with the kidneys, thyroid gland, and high blood pressure need to be watched carefully. Problems with heart valves and the aorta, the largest blood vessel in the body, are common with TS. Surgery for heart problems may be needed.

How can I help my child?

• Build your child's self esteem. A girl may have trouble in school and may not feel good about herself simply because she looks different. She may withdraw from her friends and social activities. You can build up your child's self-esteem if you remind her of her strengths. Do this regularly. Your child may need counseling to help change views and expectations about herself.
• Help your child to understand her problem. Talk about the problem. Sometimes talking with other children who also have TS can help. Children may feel better if they realize they are not alone.
• Take care of your child’s physical health. A healthy diet, enough rest, play activities, and family outings are good for every child.
• Join support groups. Talking with other people who face the same challenges can help.

For more information, contact

• Turner Syndrome Society
  http://www.turnersyndrome.org
  800-365-9944