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
2.What causes Turner
Turner syndrome is caused by the complete or partial
absence of one of the two X chromosomes normally found in
3.How is Turner
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
are the most common characteristics of Turner syndrome?
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
As a chromosomal condition, there is no "cure" for Turner
syndrome. However much can be done to minimize the symptoms. For
- 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
7.Are there other
problems associated with having Turner syndrome?
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
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
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
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
11.When was Turner
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 perform karyotypes became available.