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Congenital hypothyroidism

Dr Abhilash Sandhyala and Dr Yuranga Weerakkody et al.

Congenital hypothyroidism (CHT) can be of thyroidal or central (hypothalamic / pituitary) origin and can have a widely diverse molecular 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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