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Turners Syndrome - Symptoms and Treatment


Turner's syndrome is the most common chromosome abnormality of human females.Turner's syndrome is a genetic disorder characterized by predominantly short stature in girls. Instead of the normal XX chromosomes for a female, only one X chromosome is present and fully functional. In Turners syndrome, one of the X-chromosomes is missing or misshapen in most of the cells in the body. This is due to a biological accident, the reason for which is usually not found. TS is a highly variable condition that affects only females. Every girl with TS is unique and most of them are healthy and well-adjusted.

Symptoms of Turners Syndrome

During birth, some babies may have puffiness of hands & feet (due to abnormal lymphatic drainage) which often disappears during infancy. Common symptoms of Turner syndrome include:

  • Short stature
  • Lymphoedema (swelling) of the hands and feet
  • Broad chest ( shield chest ) and widely-spaced nipples
  • Low hairline
  • Low-set ears
  • very few girls with Turner's syndrome show all these features.
  • Reproductive sterility
  • Amenorrhea

Causes of Turners Syndrome

The chromosome constitution 45,X, with one X in all cells, is found in approximately half of the girls with Turner's syndrome. the main causes are include

  • 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
  • Certain chromosome aberrations appear more frequent in children of elder mothers and, to a certain extent.
  • A parent silently carries rearranged chromosomes that can result in Turner syndrome in a daughter; this is the only situation in which Turner syndrome is inherited.
  • Girls and women may have heart, kidney, thyroid, hearing or vision problems. In adulthood, osteoporosis may develop.
  • Some girls may have extra skin around the neck, abnormal nails, webbed neck, low hairline, and a broad chest with widely spaced nipples and an obtuse angle at the elbow joint.

Treatment of Turners Syndrome

There is no known cure for Turner syndrome. However, there are treatments for many of the associated problems. These include:

  • Growth hormone, either alone or with a low dose of androgen, will improve growth and probably final adult height. Growth hormone is approved by the Food and Drug.
  • Administration for treatment of Turner syndrome and is covered by many insurance plans. Estrogen replacement therapy has been used since the condition was described in 1938 to promote development of secondary characteristics.
  • Modern reproductive technologies have also been used to help women with Turner syndrome become pregnant if they desire.
  • Women with Turner's syndrome have one X chromosome missing and, as a result, may be born without ovaries or with 'streak' ovaries or with ovaries that lack egg follicles.

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