Turner Syndrome

Turner Syndrome is a syndrome affecting girls where they lack a second X chromosome. Normally, girls have two X chromosomes. This lack of X chromosome in girls can cause various abnormalities, such as short stature, heart defects and reproductive issues.

PLEASE NOTE: This blog post is for information only and not to be used as a diagnostic tool. For diagnosis, please contact your GP who will be able to refer you to the appropriate specialist. 
Signs And Symptoms

The signs and symptoms of Turner Syndrome are varied, and can include:

  • Short stature (starts to become evident around age 5)
  • Infertility
  • No onset of puberty without medical intervention
  • Webbed neck
  • Low hairline at the back of the neck
  • Skeletal abnormalities
  • Heart defects (can be life-threatening)

Intelligence with Turner Syndrome is not usually affected although some may have developmental delay, learning disabilities and behavioural issues.

 

Diagnosis

A diagnosis of Turner Syndrome may be suspected during pregnancy, with the presence of heart and/or kidney abnormalities. Whilst various screening tests can detect this syndrome, the diagnosis can only be confirmed with the use of amniocentesis and/or chorionic villus sampling (CVS).

Usually, however, Turner Syndrome is diagnosed in early childhood, as the physical and mental characteristics of the syndrome become more apparent.

 

Risks

Unlike Down, Edwards or Patau Syndrome, the risk of having a child with Turner Syndrome is not related to the age of the mother and there is no apparent increase in the risk of having a further affected pregnancy. There is a birth incidence of 1:5000 but the majority of these cases result in miscarriage or are stillborn.

 

Treatment

Unfortunately, there is no treatment available for Turner Syndrome. However, many of the associated signs and symptoms can be treated, such as medically inducing puberty in girls affected by the syndrome.

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