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TURNER SYNDROME

Turner syndrome (TS) is a sex chromosome condition that occurs in approximately 1/2,500 live female births. Although it is not known exactly what causes Turner syndrome,  it's the result of a problem with a girl's chromosomes. Girls with Turner's Syndrome lack one or part of one of the so-called X chromosomes, i.e. sex-chromosomes, that carry genes for conditions relating to the development of ovaries, sex-hormone production, and physical development in general. The effects of the condition 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.

Girls with Turner syndrome usually have short stature. Girls with Turner syndrome who aren't treated reach an average height of about 1.40-145 cms. However, girls diagnosed early can be treated with 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. 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.

The other health problems that occur in girls with Turner syndrome. include kidney problems, high blood pressure, heart problems, overweight, hearing difficulties, diabetes, thyroid problems. Some girls with the condition may experience learning difficulties, particularly in mathematics. 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

Management of medical problems in Turner syndrome is a multidisciplinary effort coordinated by a Pediatric Endocrinologist (Pediatrician who is specialized in growth and hormonal problems of children)

Turner Syndrome in English Editör : Prof.Dr. Abdullah Bereket