Turner's syndrome Gonadal dysgenesis

• 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:
  Osteoporosis
• 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