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Turner's Syndrome

more about Turner's Syndrome


  • Turner's syndrome is a genetic disease that affects women.  Women normally have two X chromosomes, while men have one X and one Y chromosome.  Women with Turner's syndrome lack one of the two X chromosomes.  This leads to many physical and sexual abnormalities.  There is really no treatment for the disease itself.  However, some of the physical problems that occur in women with the disease can be treated.  This disease occurs in one in ten thousand baby girls and is one of the most common genetic diseases.

  • Women with Turner's syndrome have certain characteristics that occur more commonly in them.
    1. They are often shorter than normal.
    2. They may be slightly mentally retarded.
    3. The arch of their mouth is often higher than normal.
    4. They may have a webbed neck.
    5. They often have small jaws and low-set ears.
    6. They may have wide spaced nipples.
    7. They may have delayed puberty and often their female organs do not develop properly.  Some never have periods.
  • Women with this condition have problems with their heart valves, aorta, kidneys, and stomach bleeding more often than normal.  They also have a higher chance of developing diabetes, High Blood Pressure, Cataracts, arthritis, and problems with their thyroid gland.

  • Turner's syndrome is a disease caused by abnormal genes.  It develops while the baby is still in the uterus. The exact cause of the genetic problem is not known.

  • The diagnosis is often made because of the appearance of the girl, either at birth or in early childhood.
  • Also, in some cases, the diagnosis is made when tests are done to determine why the girl is not developing normally or why she has not had periods.
  • Several tests may be done before the final diagnosis is made.
  • Once the doctor suspects the diagnosis of Turner's syndrome, a blood test can be done to see if the disease is present.

  • There is no real treatment for the disease.  It is a genetic disease and cannot be corrected.
  • However, the physical changes associated with the disease can be partially treated.
  • Growth hormone can be given to children to help them grow taller.
  • Hormone therapy with estrogen and Progesterone can be given to help cause periods.
  • Women with this disease need to be checked carefully for diabetes, High Blood Pressure, high cholesterol, Osteoporosis (weak, brittle bones), and thyroid problems.  Once any of these conditions are detected, they need to be treated.
  • Women with Turner's syndrome need yearly eye exams.
  • Women with this condition have a decreased life expectancy.  This is because the other medical conditions (such as diabetes, High Blood Pressure, and high cholesterol) occur more often with Turner's syndrome and, therefore, there is a higher chance of having heart attacks and Strokes.
  • There are variations in the genetic changes that are associated with Turner's syndrome.  These variations can be detected with blood tests.  Sometimes, children with these other variations will have much milder physical changes.





more about Turner's Syndrome


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