Defect of the Iodinating System in Congenital Goitrous Cretinism: Report of a Case With Biochemical Studies*

Increased peroxidase activity in Pendred's syndrome with hypothyroidism.

“…The ability of the anions used in the test to displace the unbound iodide had been considered to be a mani festation of peroxidase deficiency. Recent biochemical studies have confirmed that iodide peroxidase activity was absent in goitrous cretinism (Haddad and Sidbury 1959;Niepomniszcze et al 1973;Valenta et al 1973) and in patients with goiter, partial perchlorate discharge, euthyroidism and normal hearing (Hagen et al 1971;Niepomniszcze et al 1972). But Pendred's syndrome with goiter, euthyroidism, nerve deafness and partial perchlorate discharge was reported to have a normal peroxidase activity (Burrow et al 1973).…”

Congenital Goiter Found in a District of Omuro, Kochi, Shikoku, Japan

“…The presence of a defect in iodide organization to convert I-taken up by the thyroid into I2 and further to MIT and DIT was first reported by Stanbury and Hedge (1950), and later by many other investigators (Stanbury et al, 1955a;Haddad and Sidbury, 1959;Glayton et al, 1958;Floyd et al, 1960;Parker and Beierwaltes, 1961;Baschieri et al, 1963). In the iodide organization defect, when 1 to 2gm of KSCN was administered per os after measurement of 131 I thyroid uptake, the 131 I accumulated in the thyroid was rapidly released and its level was greatly reduced in comparison with that before the administration of KSCN.…”

“…Furthermore, when the thyroid tissue was hydrolyzed, inorganic iodine was predominant and iodoamino acids were scarce (Stanbury et al, 1955a). According to Haddad and Sidbury (1959), in the iodide organization defect, the iodination of tyrosine due to peroxidase in the thyroid tissue did not occur. In the KSCN test, no cases of Omuro goiter were observed in whom iodine release was great and on fractionation of iodoamino acids in a thyroid hydrolyzate the fractions of MIT and DIT were large and there was little inorganic iodine.…”

Molecular Analysis of Mutated Thyroid Peroxidase Detected in Patients with Total Iodide Organification Defects1

“…Complete absence of thyroid peroxidase activity has been described in patients with TIODs (7)(8)(9).…”