Updated: 10/11/2016

Turner's Syndrome

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Introduction
  • Epidemiology
    • incidence
      • 1 in every 2,000 live births
    • demographics
      • only in females
      • Less than 10% of cases are diagnosed antenatally
      • Largest proportion are diagnosed between ages 10 to 16
  • Genetics
    • mutation
      • 45 XO gentoype
  • Associated condtitions
    • medical
      • sexual infantilism
      • malignant hyperthermia common with anethesia
    • orthopaedic
      • cubitus valgus
      • idiopathic scoliosis (may be exacerbated by growth hormone therapy)
      • genu valgum
      • short 4th metacarpals
      • congenital hip dislocation
      • web neck
      • osteoporosis
Presentation
  • Symptoms
    • amenorrhea
    • short stature
    • webbed neck
  • Physical exam
    • amenorrhea with present uterus
    • coarctation of the aorta may be evident on auscultation
    • low hairline in back
    • low-set ears
    • extremity edema
    • hypertension
    • signs of thyroid dysfunction
    • stool guaiac may identify GI bleeding
Imaging
  • Radiographs
    • recommended views 
      • triplanar films of the hand
      • biplanar knee films
    • findings
      • short fourth metacarpal on AP view 
      • genu valgum on AP of knees
Treatment
  • Nonoperative
    • monitor for osteoporosis
 

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