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.

 

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%    

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.

 
Pic. left : The feet of a TS child.

(Finding suitable shoes can be a problem.We have faced that.)
   

What can be done?

As a chromosomal condition,there is no "cure" for TS as antibiotics can cure a strep throat.However much can be done.

  • 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.

  • 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: Cecilia,a TS girl, injecting her growth hormone.

 

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