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.

Features

• short stature
• shield chest, widely spaced nipples
• webbed neck
• bicuspid aortic valve (15%), coarctation of the aorta (5-10%)
  • an increased risk of aortic dilatation and dissection are the most serious long-term health problems for women with Turner's syndrome
  • regular monitoring in adult life for these complications is an important component of care
• 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