Turner Syndrome

Turner syndrome, also known as Turners syndrome or Ullrich-Turner syndrome is a disorder affecting girls which prevents them from maturing. It’s caused by a problem with a girl’s chromosomes, though having a family history of this disease does not put one at increased risk. There is no known action of the mother or father that could cause or prevent this disorder either. It occurs randomly and is not associated with any known risk factor. Turner syndrome may be diagnosed before birth, at birth, during childhood or once the girl reaches adulthood.

There are two types of Turner syndrome:

• One in which an X chromosome is completely missing in a girl child
  

• The other in which the X chromosome may be there, but there are abnormalities on it

Turner syndrome is a rare disorder affecting about 1 in every 2,500 girls on average. Girls affected by this disorder are short and have not matured sexually, though the symptoms may vary from one person to the other. Management of Turner syndrome requires a collaborated effort from a variety of healthcare professionals, as well as the patient’s family. With regular monitoring and the right care, girls can lead healthy, active lives.

When to seek expert advice

Prompt diagnosis and treatment of Turner syndrome at a young age when the girl is still growing can help her grow further. Therefore, if you suspect that your daughter is exhibiting the above signs and symptoms, you must see a paediatrician working with the Department of Paediatrics of The Aga Khan University Hospital immediately for further diagnosis to be made so that proper care and treatment can be started.