Turner Syndrome

This is the most common chromosomal abnormalities in women with primary
amenorrhoea. They are usually short structure and have absence of secondary sex
characters.

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?

What causes Turner's Syndrome?
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.

What is the role of endocrinology?

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.