Congenital Hypothyroidism (Cretinism)

Snapshot

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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