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Turner syndrome (gonadal dysgenesis – 45,X) is a condition in which a female is partly or completely missing an X chromosome.

Signs and symptoms

Turner Syndrome (gonadal dysgenesis)

Girl with Turner syndrome before and immediately after her operation for neck-webbing – Wikipedia Image

  • Short stature
  • Lymphedema of the hands and feet of a newborn
  • Broad chest and widely spaced nipples
  • Protruding ears (low set ears)
  • Low Posterior hairline
  • Reproductive sterility
  • Rudimentary ovaries gonadal streak (underdeveloped gonadal structures that later become fibrotic)
  • Amenorrhoea
  • Increased weight, obesity
  • Shortened metacarpal IV
  • Small fingernails
  • Characteristic facial features
  • Webbed neck
  • Aortic valve stenosis
  • Coarctation of the aorta
  • Bicuspid aortic valve
  • Horseshoe kidney
  • Nonverbal learning disability (problems with math, social skills, and spatial relations)

Pointsthemedicalnotes

  • Turner’s syndrome is not typically associated with central nervous system malformations or intellectual disability, although they may have some mild learning disabilities. Intellectual disability (Mental retardation) is seen in 6% of affected children.
  • Cystic hygroma is very common

Dx

  • Echocardiogram (Congenital heart disease)
  • Renal ultrasonography (Renal anomalies – Horshoe Kidney)
  • Chromosome analysis – A karyotype test will reveal chromosome profile to be 45,XO

Tx

  • Growth hormone therapy – for short stature
  • Estrogen – induce secondary sexual characteristics

 

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