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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.

Clinical presentation

Most children are asymptomatic 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.

Pathology

Aetiology
  • 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 hypothryroidism 4
  • disorders in thyroid hormone synthesis
    • TSH hypo-responsiveness
    • defects in iodide transport from circulation into the thyroid
      cell
    • 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

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