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