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Snap Shot
  • A six-week old male presents with lethargy and hypotonia. On physical exam he is jaundiced and has a large protruding tounge.
Introduction
  • Insufficient iodine intake or defect in T4/thyroid formation leading to fetal hypothyroidism
  • T4 is crucial during first two years of life for normal brain development
  • Cretinism refers to
    • untreated congenital hypothyroidism
    • leads to congenital defects and physical abnormalities
Presentation
  • Symptoms
    • severe mental retardation
    • increased weight and short stature
    • coarse facial features
    • large protuding tounge
    • umbilical hernia
Evaluation
  • Labs
    • decreased T4
    • elevated TSH
Treatment
  • Treat with levothyroxine replacement
Prognosis, Prevention, and Complications
  • Prevention by newborn screeening by law
 

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