Syndrome

Introduction
This article is a very brief overview of Turner syndrome (TS), which is a chromosomal condition. The information presented is based on the resources listed and the reader is encouraged to go to these sites to learn more about this condition.

"Marissa’s Story" as told by her Mother"
Marissa was born with lymphedema. Her hands and feet were as thick as they were long. Everyone in the delivery room knew that she had edema, but no one know why. The doctor asked if it was OK to do some blood work. Of course I said it would be fine. We left the hospital and two weeks later the test results were back: she had Turner Syndrome.

My husband and I did what the doctors told us to do. It worked for the most part and everything was fine. Marissa was not aware that anything was going on, until right after her second birthday. She look up at me and said, "Why my foot big?" It broke my heart. How do you explain lymphedema to a two year old? She will be three in December and the questions have not stopped. I just tell her she is a little different; like some people have short hair and some have long hair.

Marissa is a bright and happy little girl and she is dealing with her difference very well. My hope is that she will grow up to be a wonderful young lady who may one day help other people with differences, whatever they may be.

Turner Syndrome is a Chromosal Condition
TS is a chromosomal condition that affects approximately 1 out of every 2,500 female live births worldwide. Normally a female has two X chromosomes. In females with TS, only one normal X chromosome is present. TS results when all or part of the other X chromosomes is lost or damaged before or soon after the time of conception.

TS is a highly variable condition that affects only females. Every girl with TS is unique and most of them are healthy and well-adjusted; however, some face special physical, emotional, social, or learning challenges.

Turner Syndrome Facts
* One in 3,000 live female births have Turner Syndrome.
* The average adult height for a woman with Turner Syndrome is 4 ft 8in.
* At least 60,000 American girls and women have Turner Syndrome.
* Approximately 800 new cases of Turner's are reported yearly in the US.

What causes Turner Syndrome?
No known causes of TS have been found. There is nothing that parents do to cause, or increase, the risk of TS in their daughters. Unfortunately there is also nothing they can do to prevent it. Based on current knowledge, TS appears to be a random event that could happen to anyone.

What are the characteristics of Turner Syndrome?
Short stature and lack of ovarian development are the two most common features of TS. At the appropriate ages, these are treated with growth hormone and estrogen replacement therapy to stimulate a more normal growth pattern.

Other characteristics of TS vary greatly in their presence and their severity. These include heart and kidney abnormalities, physical characteristics such as a short neck, a low hairline at the back of the neck, and low-set ears.

Are girls with TS mentally retarded?
No! There is no connection between TS and mental retardation. The intelligence of girls with TS varies just as it does in the general population. Girls with TS are usually in the normal intelligence range; however, some may have nonverbal learning disabilities.

Where does lymphedema come into this?
Lymphedema is present in about 70% of those with TS and the hands and feet are most commonly affected. This form of lymphedema is the result of the underdevelopment of the lymphatic system before birth. As the child matures, this swelling is managed using with the same treatment methods that are used to control other types of lymphedema.

How is Turner Syndrome diagnosed?
A prenatal ultrasound may indicate that the fetus has a physical condition common to TS. However the ultrasound alone, does not provide a definitive diagnosis.

After birth a diagnosis of TS is made on the basis of a karyotype. This chromosome profile, which is based on a study of cells obtained from a blood test, is performed to confirm a missing or damaged X chromosome that is characteristic of TS.

What does the future look like for girls with Turner Syndrome?
With good medical and psychological care and the emotional support of friends and family, a girl with TS should look forward to a healthy and satisfying life.

References and Resources
The Turner Syndrome Society is web site of the National Turner Syndrome organization. It contains information and helpful links.

C.A. Bondy for The Turner Syndrome Consensus Study Group “A Guideline of the Turner Syndrome Study Group”

Living with Turner Syndrome is an excellent informative site that fulfills the promise of its name by presenting helpful information on “Living with Turner Syndrome.”

Complications of Turner Syndrome is part of the Turner Syndrome web site that provides details on possible complications and includes information on TS clinical trials.