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Updated: Sep 4 2016

Congenital Hypothyroidism (Cretinism)

Snap Shot
  • Congenital hypothyroidismA six-week-old male presents with lethargy and hypotonia. On physical exam he is jaundiced and has a large protruding tongue. 
Introduction
  • Due to agenesis of thyroid or defects in enzymes
    • most common cause in developed countries
  • Can also be caused by iodine deficiency
    • most common cause in underdeveloped countries
  • 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
  • Normal Apgars
  • Prolonged jaundice (indirect hyperbilirubinemia)
  • Presents at 6-12 weeks with
    • poor feeding
    • lethargy
    • hypotonia
    • coarse facial features
    • large protuding tounge
    • developmental delay
Evaluation
  • Labs show
  • decreased T4
  • elevated TSH
Treatment
  • Treat with levothyroxine replacement
Prognosis, Prevention, and Complications
  • Prevention by newborn screeening by law
Question
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