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neonatal hypothyroidism

Thursday 12 January 2006

Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited.


-  thyroid gland dysgenesis

  • TSH receptor mutations
    • non-syndromic congenital hypothyroidism
  • Gsalpha
  • thyroid transcription factors (TTF1, TTF2, PAX8)
  • different complex syndromes including congenital hypothyroidism

- dyshormonogenesis

  • thyroid peroxidase gene
  • thyroglobulin gene
  • PDS (Pendred syndrome)
  • NIS (sodium iodide symporter)
  • THOX2 (thyroid oxidase 2)

- congenital hypothyroid conditions associated with iodothyronine transporter defects associated with severe neurological sequelae.


- Park SM, Chatterjee VK. Genetics of congenital hypothyroidism. J Med Genet. 2005 May;42(5):379-89. PMID: 15863666