One of the most common growth disorders in girls. It results in shorter height and abnormal sexual development because their ovaries fail to mature and function normally.

What is Turner's Syndrome?

Turner's Syndrome is a relatively common disease in females, affecting many body systems. In this genetic disorder, the absence of all or part of one sex chromosome is associated with short stature and failure to mature sexually, although there is a great variability in the severity of the abnormalities. Other problems can include learning difficulties, skeletal abnormalities, hearing loss, liver dysfunction, heart and kidney abnormalities, infertility, and thyroid dysfunction.

Who is affected?

Approximately one in every 2,000 female babies has Turner's Syndrome. Among spontaneously aborted fetuses, the frequency is much higher. The condition first may be recognized in the newborn baby, in the child, in the adolescent, or rarely in the adult. Those affected require special medical surveillance throughout life.

What causes Turner's Syndrome?

Turner's Syndrome is characterized by a deficiency in the amount of genetic material on the X-chromosome, one of the two sex-chromosomes. A careful examination of genetic material, usually in a blood sample, can confirm the diagnosis.
The type and amount of missing genetic material influence which specific organ abnormalities are found, as well as the person's potential for growth. More than 90 percent of the females with Turner's Syndrome have under-developed ovaries.

What is the treatment?

Recent studies indicate that much of the growth deficit in children with Turner's Syndrome can be restored by injections of human growth hormone before growth is completed. Orally-administered replacement sex hormones at the appropriate age will promote pubertal development. Although infertility cannot be altered, pregnancy may be possible through in vitro fertilization.

Mangement of Turner's Syndrome

Children with Turner's Syndrome are not usually growth-hormone deficient, but they do increase their rate of growth with the addition of human growth-hormone therapy.
Current studies are assessing the best way to administer female sex hormones to young girls who need this therapy to achieve sexual maturity. This treatment may provide important information about how these hormones work to provide maximum bone development and growth in adolescents.

Replacement with thyroid hormone is important for growth and health in patients who need it.

Because of all these hormone issues, most girls and women with Turner's Syndrome are managed by endocrinologists, who also are expert in screening for the other associated complications of Turner's Syndrome.

New molecular genetics studies may demonstrate how information is programmed on the X and Y sex chromosomes. In some cases, this programmed information leads to an increased risk of certain cancers. Some patients with Turner's Syndrome need additional genetic studies to determine whether they have this increased cancer risk.