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WHAT IS TURNER
SYNDROME
| Turner syndrome (shortly
TS) is a chromosal condition (1/2500) causing short stature and infertility
in women and girls.It is caused by the complete or partial absence of one of
the two X chromosomes normally found in women.(pic 1)
TS is not associated with any environmental or any
other factors generally associated with genetic problems.Despite many
efforts,no real causes have been found to be linked to this condition.It's a
random event that can happen to anyone.
TS may be diagnosed throught the life span,including
adulthood if signs are subtle.
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 Normal female
(46 XX) TS woman (45 X) |
Identifying features of the
condition
| Short stature |
100% |
Ovarian failure |
90% |
| Puffy hands and feet |
80% |
Broad chest |
80% |
| Low posterior hairline |
80% |
Unusual shape and rotation of ears |
80% |
| Small lower jaw |
70% |
Inner canthal folds |
70% |
| Arms turned ouut slightly at elbows |
70% |
Soft upturned nails |
70% |
| Kidney anomalies |
60% |
Shortened 4th digits |
50% |
| Webbed neck |
50% |
Pigmented nevi (small brown moles) |
50% |
| Cardiac anomalies |
50% |
Hearing loss |
50% |
| Narrow,high-arched palate |
40% |
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People with TS are all different.Some may experience
many of symptoms,while others only a few.With appropriate medical treatment and
support,a person with TS can lead a normal,healthy and productive life.
What can be done?
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As a chromosomal
condition,there is no "cure" for TS as antibiotics can cure a strep throat.However
much can be done.
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Growth hormone,either
alone or with a weak androgen,will improve growth velocity and probably
final adult height
-
Estrogenreplacement
therapy has been used since the condition was first described in 1938 to
promotedevelopment of secondary sexual characreristics.They are also
important for maintaining good tissue and bone integrity.
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Modern reproductive
technologies have also been used to help women with TS become pregnant
should they so desire.A donor egg is used to create an embryo which is
carried by the Turner Syndrome woman.
Pic. right: A TS girl
injecting her growth hormone.
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