Skip to Top navigation
Skip to Content
Dr. Anand Saggar

Dr. Anand Saggar - MBBS, CCST, FRCP

Medical Genetic Specialist

A | A | A
07970 886663

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

back to top^

Clinical presentation

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


  • Miscarriage
  • Increased nuchal translucency
  • Hydrops fetalis


  • Oedema of hands and feet
  • Congenital heart defect


  • Short stature


  • Primary amenorrhoea


  • Infertility

back to top^

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 murmer, delayed femoral pulses, hypertension
  • Short stature

back to top^


  • 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 dis-ease and aortic dissection.

back to top^