Turner's syndrome


Turner's syndrome is a chromosomal disorder affecting around 1 in 2,500 females. It is caused by either the presence of only one sex chromosome (X) or a deletion of the short arm of one of the X chromosomes. Turner's syndrome is denoted as 45,XO or 45,X.

Clinical features

  • short stature
  • shield chest, widely spaced nipples
  • webbed neck
  • bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
  • primary amenorrhoea
  • cystic hygroma (often diagnosed prenatally)
  • high-arched palate
  • short fourth metacarpal
  • multiple pigmented naevi
  • lymphoedema in neonates (especially feet)
  • gonadotrophin levels will be elevated
  • hypothyroidism is much more common in Turner's
  • horseshoe kidney: the most common renal abnormality in Turner's syndrome

There is also an increased incidence of autoimmune disease (especially autoimmune thyroiditis) and Crohn's disease