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Dr. Anand Saggar

Dr. Anand Saggar - MBBS, CCST, FRCP

Medical Genetic Specialist

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07970 886663

Turner syndrome

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

Epidemiology

  • Incidence: 1/2500 live female births
  • Sporadic

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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

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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

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Complications

  • 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.

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