What is Turner Syndrome?
Turner Syndrome (TS) is a chromosomal condition that occurs when one of the two X chromosomes normally found in females is missing or incomplete.  The medical condition is name after Dr. Henry Turner, who was among the first to describe the condition's features in the 1930's.  This condition exclusively affects girls and women.

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.

How common is Turner Syndrome?
Turner Syndrome is among the most common chromosomal abnormalities, occurring in about 1 in 2,000 live female births.  Approximately 98% of pregnancies with Turner Syndrome abort spontaneously.  Approximately 10% of fetuses from pregnancies that have spontaneously aborted have Turner Syndrome.  Approximately 80,000 girls and women are affected in the United States with approximately 1,000 new cases being diagnosed each year.

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.

What are the symptoms of Turner Syndrome?
The most common characteristics of Turner Syndrome include short stature and lack of ovarian development.  Individuals with Turner Syndrome are also prone to cardiovascular, kidney, and thyroid medical conditions.  Skeletal disorders, such as scoliosis (curvature of the spine) and hearing disorders are also common in Turner Syndrome patients.  Individuals with Turner Syndrome might also display physical features such a webbed neck, arms that turn out slightly at the elbow, and a low hairline in the back of the head.

Can Turner Syndrome be inherited?
Most cases of Turner syndrome are not inherited. When this condition results from monosomy X, the chromosomal abnormality occurs as a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. For example, an egg or sperm cell may lose a sex chromosome as a result of nondisjunction. If one of these atypical reproductive cells contributes to the genetic makeup of a child, the child will have a single X chromosome in each cell and will be missing the other sex chromosome.

Mosaic Turner syndrome is also not inherited. It occurs as a random event during cell division in early fetal development. As a result, some of an affected person's cells have the usual two sex chromosomes (either two X chromosomes or one X chromosome and one Y chromosome), and other cells have only one copy of the X chromosome. Other sex chromosome abnormalities are also possible in females with X chromosome mosaicism.

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.

Why is it important to have an early diagnosis of Turner Syndrome?
Some girls do not have obvious physical signs of Turner Syndrome at birth and may not be diagnosed until later in childhood, often because they have unexplained short stature, poor growth or delayed or absent puberty.  It’s important to bring one’s concerns to the attention of your pediatrician which might warrant an evaluation by a pediatric endocrinologist.  The endocrinologist will then perform a blood Karyotype.

What to do if you suspect your child has Turner Syndrome?
Check with your child’s pediatrician.  Review the growth rate (how much she is growing in a 12-month period).  According to the Pediatric Endocrine Society, the minimum acceptable growth children should experience (after the age of 2 years) is two inches per year.

What is the treatment for Turner Syndrome?
Turner Syndrome cannot be cured.  However there are many medical treatments that can mitigate Turner Syndrome symptoms.  Such treatments include:

  • Growth hormone, either alone or with a low dose of androgen, can improve growth velocity and ultimate height development.  The Food and Drug Administration has approved the use of growth hormone in Turner Syndrome patients.  Many insurance plans cover the cost of this treatment.
  • Estrogen replacement therapy has been successful in the promotion of secondary sexual characteristics.  The use of estrogen is also important for maintaining tissue and bone integrity.
  • Rarely, women with TS may conceive a baby without special medical treatment.


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.

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.

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.

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 perform karyotypes.

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