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Primary congenital hypothyroidism without thyroid developmental anomaly

Synonym(s) -
Prevalence Unknown
Inheritance -
Age of onset -
  • E03.0
  • E03.1
MeSH -
MedDRA -


Disease definition

Primary congenital hypothyroidism without thyroid developmental anomaly is a type of primary congenital hypothyroidism (see this term) in which the thyroid gland is anatomically normal.


Thyroid dyshormonogenesis accounts for 10-15% of permanent congenital hypothyroidism (see this term) while TSH receptor mutations cause less than 5%.


It may be caused by either resistance to thyroid stimulating hormone (TSH) as a result of TSH receptor mutations or by inborn errors of thyroid hormone synthesis, also known as thyroid dyshormonogenesis (see these terms), and it results in permanent thyroid hormone deficiency that is present from birth.

Expert reviewer(s)

  • Dr Stephen LAFRANCHI
  • Dr Maynika RASTOGI

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