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Introduction
  • Monosomy resulting from
    • nondisjuction (XO)
    • mosaicism (XX, XO; XY, XO) 
    • only monosomy not aborted in utero
    • no Barr bodies
  • Leads to abnormal sexual differentiation with 
    • primary amenorrhea
    • streak gonads  
      • menopause before menarche
    • infertility
    • delayed sexual maturation
    • normal intellegence
  • Pathogenesis
    • ↓ estradiol leads to ↑ FSH and LH 
    • normal GH and insulin-like growth factor
Presentation
  • Physical exam 
    • short stature
    • webbed neck
    • shield chest
    • wrist and ankle edema
      • both edema and webbed neck a result of malformed lymphatic vasculature  
Prognosis, Prevention, and Complications
  • Increased risk for
    • gonadal blastoma (specifically XY, XO mosaics)
    • preductal coarctation of aorta and bicuspid aortic valve 
    • dysgerminoma ovarian tumor
    • horseshoe kidney

 

 

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