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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Congenital goitre due to "thyroid peroxidase-iodinase defect".

A 16-year-old male cretin with congenital goitrous hypothyroidism and 95% discharge in the perchlorate test underwent thyroidectomy. Thyroid studies disclosed negligible peroxidase ( TPO) activity in the tyrosine iodinase assay, 6 nmoles I- inc./g (normals: 220-410). Using the same particulate preparations, a high activity was obtained in the guaiacol assay, 485 U/mg vs. 176 U/mg of a control gland. Goitre TPO was solubilized by treating the thyroid pellets with deoxycholate, trypsin and acetone. Soluble goitre TPO was further purified on Sephadex G-200. By this procedure we obtained a single peak of enzyme activity for oxidizing guaiacol, although no activity was found for iodinating tyrosine. I2 formation, as measured by the triiodide assay, was only 28% of that expected for normal TPO when compared for guaiacol oxidation. It is concluded that this abnormal TPO was the cause of the congenital hypothyroidism of the patient. We suggest the term "thyroid peroxidase-iodinase defect" for defining this newly found inborn error.[1]


  1. Congenital goitre due to "thyroid peroxidase-iodinase defect". Niepomniszcze, H., Coleoni, A.H., Targovnik, H.M., Iorcansky, S., Degrossi, O.J. Acta Endocrinol. (1980) [Pubmed]
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