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Definition

A disorder due to thyroid dyshormonogenesis, causing large goiters of elastic and soft consistency in the majority of patients. Although the degree of thyroid dysfunction varies considerably among patients with defective thyroglobulin synthesis, patients usually have a relatively high serum free triiodothyronine (T3) concentration with disproportionately low free tetraiodothyronine (T4) level. The maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4 supply, resulting in neurologic and intellectual defects in some cases.

Acronym

TDH3

Synonyms

CHDH3
Congenital hypothyroidism due to dyshormonogenesis type 3
Genetic defect in thyroid hormonogenesis type 3

Keywords

Congenital hypothyroidism