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Congenital causes of hypothyroidism

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

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Congenital causes of hypothyroidism may be grouped into three clinical groups:

  • hypothyroidism with absent thyroid tissue, due to:
    • mutations in the TSH-receptor, PAX-8 or TTF2

  • hypothyroidism with thyroid tissue present:
    • iodine transport defects:
      • these patients have a low radioiodine uptake
    • iodine organification defects:

hypothyroidism with high radioiodine uptake and positive perchlorate discharge:

  • thyroglobulin synthesis defect:
    • Pendred's syndrome
  • some TSH-receptor mutations

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