Turner Syndrome

Turner Syndrome (also called Turner's Syndrome) is a genetic disorder caused by a missing or partially missing X chromosome. It affects only females and typically causes a variety of physical abnormalities. Girls and women with Turner Syndrome usually are short, and their ovaries and breasts fail to develop normally.

What Is Turner Syndrome?

Turner Syndrome is a genetic disorder that occurs when one of a girl's X chromosomes is partially or completely missing. Almost every cell in a person's body (except for eggs and sperm cells) has 23 pairs of chromosomes. One pair, the sex chromosomes, makes a person male or female: Boys have an X and a Y chromosome (XY), whereas girls have two X chromosomes (XX). The chromosomes contain all of the information the body needs to function and to develop properly. If part of a chromosome is missing, as in Turner Syndrome, the important information on that chromosome also is missing.

How a girl's body is affected physically by Turner Syndrome depends on how much of the chromosome is missing. Some girls have a mild form of the syndrome that is not detected until they are teenagers or adults. If untreated, nearly all girls with Turner Syndrome will grow slowly and reach a short adult height, and their breasts will not enlarge and they will not have menstrual periods as would be expected in most adolescent girls. Some may have additional problems, including:

• abnormalities in appearance
• hearing loss
• obesity
• heart disorders
• kidney disorders
• thyroid disorders

Most of the physical conditions are treatable, and with good consistent medical care, a person with Turner Syndrome can have a fully productive life and normal life span. Most people with Turner Syndrome have normal intelligence, but some may have specific learning problems, especially with math.

What Causes Turner Syndrome?

About 1 in 2,000 female babies is born with Turner Syndrome, and doctors do not know why. Researchers have tried to find a link between Turner Syndrome and environment, race, geography and socioeconomic status, but these factors have not been proved to play a role.

Living with Turner Syndrome: Carol's Life

Because of physical abnormalities and feeling "different," life might not be easy for a girl with Turner Syndrome. Carol was born with swollen hands and feet, extra skin at the back of her neck (a webbed neck), oddly shaped ears, and arms that tilted outward from the elbows. Based on her appearance, her doctor suspected that she had Turner Syndrome. A test in which Carol's chromosomes were studied confirmed that she was missing one of her X chromosomes.

Carol was teased about her appearance in elementary school, but she was most miserable during her teenage years. She was always the shortest person in her class. When other girls started developing breasts and getting their period, Carol still looked and felt like a little girl. After Carol's doctor prescribed the hormone estrogen to promote sexual development, she finally got her period.

How Do Doctors Treat Turner Syndrome?

Many of the problems associated with Turner Syndrome, such as the failure of the ovaries to develop normally, cannot be prevented, but there are a number of things that can be done to improve an affected person's quality of life:

• Plastic surgery for the neck, face, or ears can improve appearance and self-esteem, if necessary.
• Growth rate and adult height may be increased by treatment with injections of growth hormone.
• Taking the female hormone estrogen promotes sexual development in girls with Turner Syndrome.
• Support groups can help girls with Turner Syndrome develop into confident, successful, and productive adults.
• In some cases, women with Turner Syndrome may be able to become pregnant if a fertilized donor egg is inserted into their uterus.