Pedigree problem: Nystagmus as a result of Turner’s 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.
Girls with Turner syndrome are usually short in height. 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.
How Does It Happen?
Most girls are born with two X chromosomes, but girls with Turner syndrome are born with only one X chromosome or they are missing part of one X chromosome. The effects vary widely among girls with Turner syndrome. It all depends on how many of the body’s cells are affected by the changes to the X chromosome.
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.
Other Effects Turner Syndrome Can Have
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. Many 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:
a “webbed“ neck (extra folds of skin extending from the tops of the shoulders to the sides of the neck)
a 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
Because Turner syndrome can affect how a girl looks and develops, some girls may have problems with body image or self-esteem.
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, most people with TS can lead normal, healthy, and productive lives.
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