Congenital iodide organification defect accompanied by a large nodular goiter: a case report.
A girl who had a nontoxic diffuse goiter with a congenital organification defect of iodide was first seen at the age of 8 years, and since then she has been followed up for a long period. The nodularity of the thyroid gland had gradually progressed, because of intermittent failure of ingestion of thyroid hormone preparation which was followed by excess TSH secretion. 18 years later, a nodular goiter developed and the patient underwent subtotal thyroidectomy. In order to prevent the development of nodular change in the thyroid gland in this disorder, supplemental thyroid hormone medication should be started as soon as the diagnosis is confirmed, and the therapy should be carried out regularly.
D000328:Adult; D004105:Diiodotyrosine / Q000378:metabolism; D005260:Female; D006044:Goiter, Nodular / Q000150:complications* / Q000235:genetics / Q000473:pathology; D006801:Humans; D007454:Iodides / Q000378:metabolism*; D008661:Metabolism, Inborn Errors / Q000150:complications*; D007470:Monoiodotyrosine / Q000378:metabolism; D010375:Pedigree
D007454:Iodides; D004105:Diiodotyrosine; D007470:Monoiodotyrosine