TIODTotal Iodide Organification Defect (thyroid)
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One patient with permanent CH and TIOD carried a homozygous substitution, whereas three patients with temporary CH and PIOD carried heterozygous mutations that cause premature termination signal.
TPO activity is not detectable in thyroid tissue of patients with TIOD. Absence of TPO activity implicates the inability to iodinate tyrosine residue in Tg and to couple these residues to form THs, mainly [T.sub.4] and some [T.sub.3] and r[T.sub.3] (reverse [T.sub.3]) Inactivating mutations in both TPO alleles have been found in patients with CH caused by TIOD.
Total iodide organification defects (TIODs) are characterized by release of > 90% of the accumulated radioiodine.