PT 20210A
Turner's Syndrome

Turner's Syndrome
 Turner Syndrome FAQ

1.What is Turner syndrome?

Turner syndrome is a chromosomal condition that exclusively affects girls and women. It occurs when one of the two X chromosomes normally found in females is missing or incomplete. The syndrome is named after Dr. Henry Turner, who was among the first to describe its features in the 1930's.

2.What causes Turner syndrome?

Turner syndrome is caused by the complete or partial absence of one of the two X chromosomes normally found in women.

3.How is Turner syndrome diagnosed?

A blood test, called a karyotype, analyzes the chromosomal composition of the individual. This is the most commonly used blood test to diagnose Turner syndrome.

4.Does any one thing cause Turner syndrome?

No. Turner syndrome is not associated with any environmental or any other factors generally associated with genetic problems. Despite many efforts, no real causes have been found to be linked to this condition. It appears to be a random event that can happen to anyone.

5.What are the most common characteristics of Turner syndrome?

The most common characteristics of Turner syndrome include short stature and lack of ovarian development. A number of other physical features, such as webbed neck, arms that turn out slightly at the elbow, and a low hairline in the back of the head are sometimes seen in Turner syndrome patients. Individuals with Turner syndrome are also prone to cardiovascular problems, kidney and thyroid problems, skeletal disorders such as scoliosis (curvature of the spine) or dislocated hips, and hearing and ear disturbances.

6.What can be done?

As a chromosomal condition, there is no "cure" for Turner syndrome. However much can be done to minimize the symptoms. For example:

  • Growth hormone, either alone or with a low dose of androgen, will improve growth velocity and probably final adult height. Growth hormone is approved by the Food and Drug Administration for treatment of Turner syndrome and is covered by many insurance plans.

  • Estrogen replacement therapy has been used since the condition was described in 1938 to promote development of secondary sexual characteristics. Estrogens are also important for maintaining good tissue and bone integrity.

  • Modern reproductive technologies have also been used to help women with Turner syndrome become pregnant if they desire. For example, a donor egg can be used to create an embryo, which is carried by the Turner syndrome woman.

7.Are there other problems associated with having Turner syndrome?

Sometimes. Heart problems, kidney problems or thyroid problems are the most frequent health problems that can occur. While they are usually not too serious, they do require good consistent medical care and management by a qualified sub-specialist. Not everyone has every problem associated with this condition.

8.How often does Turner syndrome occur?

Turner syndrome is among the most common chromosomal abnormalities, occurring in about 1 out of 2500 live female births. Approximately 60,000 girls and women are affected in the United States, with approximately 800 new cases being diagnosed each year.

9.What is the life expectancy of a woman with Turner syndrome?

There is not much information available on this issue. It is currently believed that with regular, competent medical care, a woman with Turner syndrome can lead a full, productive life.

10.Are Turner syndrome women mentally retarded?

No. There is no connection between Turner syndrome and mental retardation. There may be some differences in learning style that make verbal learning come more easily and math or spatial problems more difficult. Despite these challenges, women with Turner syndrome can lead productive successful lives in many different types of careers.

11.When was Turner syndrome identified?

Dr. Henry Turner, an internist from the University of Oklahoma, first identified a set of common physical features in seven of his patients in an article published in 1938. The chromosomal deficiency that now defines Turner syndrome wasn't discovered until 1959, when the technology to p
erform karyotypes became available.

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