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Updated: Aug 10 2021

Turner Syndrome

  • Overview
  • 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, as Y chromosome increases risk of tumor formation in dysgenic gonads)
      • preductal coarctation of aorta and bicuspid aortic valve
      • dysgerminoma ovarian tumor
      • horseshoe kidney
      • decreased fertility
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