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Updated: Aug 5 2019

Congenital Hypothyroidism (Cretinism)

  • Snapshot
    • A six-week-old male presents with lethargy and hypotonia. On physical exam, he is jaundiced and has a large protruding tongue.
  • 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 screening by law
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