Updated: 6/16/2021

Turner's Syndrome

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  • summary
    • Turner's Syndrome is a common congenital disorder caused by a missing X chromosome that presents with scoliosis, short stature, webbed neck, amenorrhea, cardiovascular abnormalities, and osteoporosis. 
    • Diagnosis is made with chromosomal testing showing a 45 XO genotype.
    • Treatment involves a multidisciplinary approach to address orthopedic manifestations, cardiovascular abnormalities, and genitourinary anomalies. 
  • 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
  • Etiology
    • Genetics
      • mutation
        • 45 XO genotype
    • 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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