What is Turner syndrome?

Turner syndrome is a genetic disorder where some of the genetic information is missing. This condition occurs only in females. Turner syndrome occurs in about 1 in every 2,500 female births.

What is the cause?

The information that determines how our bodies are made is stored in microscopic structures called chromosomes. Copies of our chromosomes are found in all of our cells. Two of the chromosomes are called sex chromosomes. The sex chromosomes have important information on them and also determine if you are male or a female. The sex chromosomes are called the X and Y chromosome. If you are male you have one X and one Y chromosome in every cell. If you are a female you have two X chromosomes. Turner syndrome is a problem that happens just to females and is caused when there is a problem with the one of the two X chromosomes. One of the X chromosomes is either missing, partially there, or rearranged. The lack of the second normal X chromosome leaves the person with only one normal X chromosome.

No one understands exactly why the second sex chromosome is lost. The loss of the genetic material may occur in the developing baby. Occasionally, it is inherited from the mother or father. Before having another child, parents are encouraged to have genetic counseling to figure out the chances of having other children with problems.

What problems does it cause?

This genetic condition may cause several problems. The symptoms and problems vary from person to person. Women with Turner syndrome are usually very short. Other problems may include:

• ovaries do not develop
• abnormal shape of the palate in the mouth
• ear infections
• a fold of skin between the shoulder and the neck
• breasts do not develop
• some differences in the fingernails and elbows
• heart, kidney, hormonal and skeletal problems.

How is it diagnosed?

Your health care provider will exam your daughter and check her growth. If your provider suspects Turner syndrome, a blood test will be done to test for Turner syndrome.

Will my child grow and develop normally?

There is no cure for Turner syndrome. Fortunately, girls and women with Turner syndrome can live happy and full lives. They have normal intelligence, although some have learning difficulties. A short height is very common. Only about 5% of girls will reach a normal height. Nearly all females with Turner syndrome have problems with fertility.

Will my child need special medical care?

Hormone treatments will help your daughter develop sexual characteristics, grow taller, and help with bone development. If your daughter has heart, kidney, or hormonal problems, specific care will be needed. Surgery for heart problems is sometimes needed early in life. Medicine and medical procedures may help a woman with Turner syndrome conceive a child. Fertility treatments are usually covered by insurance companies.

Are there support groups for families, parents, and people with Turner syndrome?

Yes. Several groups are available on the Internet to provide you with additional information. Ask your health care provider if there are groups in your area to provide you with information and support.