Congenital hypothyroidism

Congenital hypothyroidism (CHT), previously known as cretinism, can be of thyroidal or central (hypothalamic/pituitary) origin and can have a widely diverse molecular aetiology.

Most children are asymptomatic at birth and are diagnosed after screening. In untreated CHT patients can present with short stature, disproportionately enlarged head, and/or developmental delay / intellectual disability 5.

  • disorders in development of the thyroid gland
    • thyroid is absent
    • under-development with migration failure
    • under-development with normal migration
    • certain fetal goitres can also give hypothyroidism 4
  • disorders in thyroid hormone synthesis
    • TSH hypo-responsiveness
    • defects in iodide transport from circulation into the thyroid
    • defects in iodide transport from the thyroid cell to the
      follicular lumen, often combined with inner ear deafness
      (Pendred syndrome)
    • defects in the synthesis of hydrogen peroxide
    • defects in the oxidation of iodide, iodination and
      iodothyronine synthesis
    • defects in processes involved in the synthesis or degradation of thyroglobulin
    • detects in iodine recycling
  • central congenital hypothyroidism
    • disorders in development and/or function of the
      • hypothalamus
      • pituitary gland
      • both
  • delayed skeletal maturation
  • bone epiphysis/ossification centres are absent or small
    • stippled epiphysis appearance
  • cortical thickening
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Article information

rID: 15546
Synonyms or Alternate Spellings:
  • Cretinism
  • Fetal hypothyroidism
  • Neonatal hypothyroidism
  • Congenital hypothyroidism (CHT)

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