thyroid dyshormonogenesis 3

(redirected from thyroid hormonogenesis, genetic defects in, 3)

thyroid dyshormonogenesis 3

A disorder (OMIM:274700) caused by thyroid dyshormonogenesis, resulting in large goitres, a variable degree of dysfunction, and defective thyroglobulin synthesis. Patients usually have a relatively high serum free T3 and disproportionately low free T4; the maintenance of relatively high free T3 levels prevents profound tissue hypothyroidism except in brain and pituitary, which are dependent on T4, resulting in neurologic and intellectual defects in some patients.

Molecular pathology
Caused by defects of TG, which encodes thyroglobulin, a glycoprotein produced primarily by the thyroid.
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