Common conditions

Turner Syndrome

Turner syndrome is due to the deficiency of all or part of one X chromosome in females (45,X).



  • Incidence: 1/2500 live female births
  • Sporadic


Clinical presentation

Turner syndrome has a very variable phenotype and presents with diverse clinical features in different age groups:

  • Pre-natal
  • Miscarriage
  • Increased nuchal translucency
  • Hydrops fetalis
  • Newborn
  • Oedema of hands and feet
  • Congenital heart defect
  • Childhood
  • Short stature
  • Teenage
  • Primary amenorrhoea
  • Adulthood
  • Infertility


Physical Signs

  • Webbed neck
  • Low hairline
  • Wide-spaced nipples
  • Oedema of hands and feet, especially in infancy
  • Short 4th and 5th metacarpals
  • Evidence of congenital heart disease: heart murmur, delayed femoral pulses, hypertension
  • Short stature



  • Recurrent otitis media (60%)
  • Congenital heart defect (15-50%): coarctation of the aorta, VSD.
  • Renal anomalies (30%): horseshoe kidney, agenesis
  • Autoimmune disease: hypothyroidism, diabetes mellitus
  • Primary amenorrhoea, gonadal dysgenesis
  • Infertility
  • Osteoporosis (secondary to decreased oestrogen)
  • Intelligence is usually within normal range
  • Life expectancy is reduced due to obesity, ischaemic heart disease and aortic dissection.