Turner's syndrome Gonadal dysgenesis

Turner's syndromeTurner's syndrome
  • Facts:
    45, XO karyotype
    MCC of primary amenorrhea
  • History / PE:
    Upper extremity hypertension
    Cystic hygroma (benign neck mass)
    Horseshoe kidneys
    Webbed neck
    Hypogonadism (streak ovaries)
    Congenital lymphedema (dysgenesis of lymphatic network)
  • Diagnosis:
    Mild, continuous murmur heard all over chest (due to the development of collaterals)
    Coartation of the aorta (delayed femoral pulses)
    Increase in FSH levels (2/2 ovarian dysgenesis/failure)
    Rib notching
    Karyotype analysis
  • Complications:
  • Notes:
    46 XY variant of Turner's is associated with increased risk of gonadoblastoma (requires prophylactic bilateral gonadectomy)
  • Associated With:
    Bicuspid aortic valve
  • Differential Diagnosis:
    Diamond-Blackfan anemia (webbed neck, pure RBC aplasia)
    Savage syndrome (46, XX)
    Male gonadal agenesis (46, XY)
    Noonan syndrome

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September 8th 2010