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Updated: Dec 24 2021

Turner Syndrome

Images syndrome.jpg
  • Snapshot
    • A 19-year-old female presents to the gynecologist for the first time. She reports that she has not started to menstruate. The OB/GYN notes that the patient is short-statured and has notably delayed breast development with webbing skin between the neck and shoulders.
  • Introduction
    • Genetic disorder caused by a missing X chromosome in females (45XO)
    • Most common cause of primary amenorrhea (uterus present)
    • Most patients are infertile
    • Associated with greater risk for developing co-morbities including
      • cardiac problems
        • hypertension
        • coarctation of the aorta
        • aortic valve abnormalities (e.g. bicuspid aortic valve)
      • renal dysfuncton
        • horseshoe kidney
      • diabetes
      • cystic hygroma
      • cataracts
      • osteoporosis
      • thyroid problems
  • 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
      • shortened fourth and fifth metacarpals
      • hypertension
      • signs of thyroid dysfunction
      • stool guaiac may identify GI bleeding
    • Endoscopy
      • may identify GI telangiectasias causing lower GI bleeding
    • Buccal smear for absent Barr bodies is outdated diagnostic method
    • Labs
      • low anti-Mullerian hormone
    • Karyotype analysis
      • diagnostic test of choice
      • may identify 45XO, confirming diagnosis
    • Fertility testing
      • may identify 45XO, confirming diagnosis
    • Diagnosis is based primarily on physical exam and patient history
  • Differential
    • Down syndrome, polycystic ovarian disorder
  • Treatment
    • Prevention
      • no preventive measures are available for this condition
    • Medical management
      • Growth hormone
        • may help patient achieve normal height
      • Estrogen/progesterone hormone replacement
        • allows development of secondary sex characteristics
        • may aid fertility
      • IVF
        • may assist in reproduction
  • Complications
    • Coarctation of the aorta, ovarian dysgenesis, GI telangiectasias
  • Prognosis
    • Good to very good with appropriate treatment
    • Most patients live complete lives
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