Information on Turner Syndrome

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Turner Syndrome (TS), or Ulrich-Turner Syndrome, is a genetic disorder in which one in every 2,500 females is born with a missing or damaged sex chromosome. This causes girls to look different in appearance, mature slower sexually, and have health problems.

Turner Syndrome is caused when an error occurs during the forming of an egg or sperm cell. A chromosome goes missing when an egg or sperm cell does not contribute it to the embryo, therefore, resulting in TS. Having only one sex chromosome instead of the normal two is called monosomy. (Turner Syndrome is sometimes called Monosomy X). Turner Syndrome is a chromosomal disorder.

Girls with Turner’s come across many problems from when they are born to when they reach adulthood. When they’re born, their feet and hands are puffy and swollen, and their neck is webbed. Girls with TS are born without ovaries or poorly formed ones.

Without ovaries, estrogen is absent, and they don’t go through puberty. Heart, kidney, thyroid, and aorta problems may occur and should be pointed out early. Their mental state of mind is normal, as is their IQ but their verbal skills are better than their nonverbal. With all these external and internal complications, none are life-threatening if detected before anything can get bad.

Detecting Turner’s may be difficult but definitive tests are given when signs or symptoms are shown. Even during pregnancy, doctors can sometimes tell if a baby may be affected through ultrasounds. The ultrasounds show findings such as heart defect, cystic hygroma, or an abnormal kidney. An ultrasound, however, is not always accurate because fetuses can look the same with or without TS, and sometimes signs of TS are not noticed until puberty. For an almost hundred percent accurate diagnosis, the chromosomes can be analyzed, through a blood sample, cells from the amniotic fluid, or the placenta. Although doctors can tell if a girl has TS or not, they cannot prevent it.

Turner Syndrome is an incurable disorder, but treatments for the affects are available. Growth hormone and androgen therapy can be given to increase height. Hormone replacement therapy can be given so that girls will go through puberty. The aorta can be surgically fixed if it’s necessary and medications are available to deal with any thyroid problems.

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Wynbrandt, James. The Encyclopedia of Genetic Disorders and Birth Defects. Factson File, Inc. New York, NY. Copy right 1991 – 2000.