Turner Syndrome

Turner syndrome (TS) is a medical disorder that affects about 1 in every 2,500 girls. Although researchers don't know exactly what causes Turner syndrome, they do know that it's the result of a problem with a girl's chromosomes . Most girls are born with two X chromosomes, but girls with Turner syndrome are either born with only one X chromosome, or they are missing part of one X chromosome. The effects of the condition vary widely among girls with Turner syndrome. It all depends on what percentage of the body's cells are affected by the changes to the X chromosome. The higher the percentage of the body’s cells with affected X chromosomes, or only one X chromosome, the more severe the presentation of Turner’s features.

Girls with Turner syndrome are usually short in height, and those who aren't treated for short stature reach an average height of about 4 feet 7 inches (1.4 meters). The good news is that when Turner syndrome is diagnosed while a girl is still growing, she can be treated with growth hormones to help her grow taller.

In addition to growth problems, Turner syndrome prevents the ovaries from developing properly, which affects a girl's sexual development and the ability to have children. Because the ovaries are responsible for making the hormones that control breast growth and menstruation, most girls with Turner syndrome will not go through all of the changes associated with puberty unless they get treatment for the condition. Nearly all girls with Turner syndrome will be infertile, or unable to become pregnant on their own.

A number of other health problems occur more often in girls with Turner syndrome, including kidney problems, high blood pressure, heart problems, overweight, hearing difficulties, diabetes, and thyroid problems. Some girls with the condition may experience learning difficulties, particularly in math, and some have a difficult time with tasks that require skills such as map reading or visual organization.

In addition to short stature and lack of sexual development, some of the other physical features commonly seen in girls with Turner syndrome are:

  • "webbed" neck (extra folds of skin extending from the tops of the shoulders to the sides of the neck)
  • low hairline at the back of the neck
  • drooping of the eyelids
  • differently shaped ears that are set lower on the sides of the head than usual
  • abnormal bone development (especially the bones of the hands and elbows)
  • a larger than usual number of moles on the skin
  • edema or extra fluid in the hands and feet

People with TS are all different. Some may have many physical differences and symptoms, whereas others experience only a few medical problems. With early and appropriate medical care and ongoing support, people with TS can lead normal, healthy, and productive lives.

Girls with Turner syndrome are usually diagnosed either at birth or around the time they might be expected to go through puberty. If a baby girl has some of the signs of Turner syndrome, a doctor will usually order a special blood test called a karyotype. The test counts the number of chromosomes and can identify any that are abnormally shaped or have missing pieces. In some cases, there are no recognizable signs that a girl has the condition until she reaches the age at which she would normally go through puberty. If the karyotype blood test reveals that a girl has Turner syndrome, her doctor may order additional tests to check for problems with the kidneys, heart, hearing, and other problems that are often associated with Turner syndrome.

Because Turner syndrome is a condition that is caused by a chromosomal abnormality, there's no specific cure. However, scientists have developed a number of treatments that can help correct some of the problems associated with the condition — such as growth problems — and researchers are constantly looking into new forms of treatment. Growth hormone treatment can improve growth and influence a girl's final adult height. In fact, in many cases, the treatment can help many girls with Turner syndrome reach a final height in the average range, especially if treatment is started early enough in childhood.

Another treatment for Turner syndrome is estrogen replacement, which helps the girl develop the physical changes of puberty, including breast development and menstrual periods. This treatment is often started when a girl reaches about age 12 or 13. For women with Turner syndrome who wish to have a child, a technique called in vitro fertilization can make it possible for some to become pregnant. A donor egg can be used to create an embryo, which is then put into the uterus (womb) of the woman with Turner syndrome. With proper supportive care, the woman can carry the pregnancy to term and deliver a baby through the normal birth process.

Useful Links:

The Turner Syndrome Society
(http://www.turnersyndrome.org/)

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