{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,2,21]],"date-time":"2025-02-21T17:54:32Z","timestamp":1740160472645,"version":"3.37.3"},"reference-count":54,"publisher":"Walter de Gruyter GmbH","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2016,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Thyroid dyshormonogenesis continues to be a significant cause of congenital hypothyroidism. Over time, forms of thyroid dyshormonogenesis can result in goiter, which can lead to difficult management decisions as the pathologic changes can both mimic or lead to thyroid cancer.<\/jats:p><jats:p>Herein we describe the cases of two brothers diagnosed with congenital hypothyroidism, with initial findings consistent with thyroid dyshormonogenesis. One brother eventually developed multinodular goiter with complex pathology on biopsy, resulting in thyroidectomy.<\/jats:p><jats:p>Whole exome sequencing revealed the brothers carry a novel frameshift mutation in thyroperoxidase; the mutation, while not previously described, was likely both deleterious and pathogenic.<\/jats:p><jats:p>These cases highlight the complex pathology that can occur within thyroid dyshormonogenesis, with similar appearance to possible thyroid cancer, leading to complex management decisions. They also highlight the role that a genetic diagnosis can play in interpreting the impact of dyshormonogenesis on nodular thyroid development, and the need for long-term follow-up in these patients.<\/jats:p>","DOI":"10.1515\/jpem-2015-0253","type":"journal-article","created":{"date-parts":[[2016,2,19]],"date-time":"2016-02-19T17:02:35Z","timestamp":1455901355000},"source":"Crossref","is-referenced-by-count":3,"title":["Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase"],"prefix":"10.1515","volume":"29","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5940-1544","authenticated-orcid":false,"given":"David P.","family":"Sparling","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kendra","family":"Fabian","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lara","family":"Harik","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vaidehi","family":"Jobanputra","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kwame","family":"Anyane-Yeboa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sharon E.","family":"Oberfield","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilene","family":"Fennoy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","reference":[{"key":"ref371","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.mce.2010.02.008","article-title":"Genetics and phenomics of hypothyroidism and goiter due to TPO mutations","volume":"322","year":"2010","journal-title":"Mol Cell Endocrinol"},{"key":"ref451","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1016\/j.abb.2005.06.023","article-title":"Structural and functional aspects of thyroid peroxidase","volume":"445","year":"2006","journal-title":"Arch Biochem Biophys"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"511","DOI":"10.1530\/EJE-07-0037","article-title":"High prevalence of thyroid peroxidase gene mutations in patients with thyroid dyshormonogenesis","volume":"156","year":"2007","journal-title":"Eur J Endocrinol"},{"key":"ref101","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.mce.2010.02.008","article-title":"Genetics and phenomics of hypothyroidism and goiter due to TPO mutations","volume":"322","year":"2010","journal-title":"Mol Cell Endocrinol"},{"key":"ref41","doi-asserted-by":"crossref","first-page":"1811","DOI":"10.1056\/NEJMoa0706819","article-title":"Mutations in the iodotyrosine deiodinase gene and hypothyroidism","volume":"358","year":"2008","journal-title":"N Eng J Med"},{"key":"ref381","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1007\/BF02739930","article-title":"Dyshormonogenetic goiter: a clinicopathologic study of 56 cases","volume":"8","year":"1997","journal-title":"Endocr Pathol"},{"key":"ref211","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1056\/NEJMoa1306555","article-title":"Clinical whole-exome sequencing for the diagnosis of mendelian disorders","volume":"369","year":"2013","journal-title":"N Engl J Med"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"605","DOI":"10.1210\/jc.2007-2020","article-title":"Biallelic inactivation of the dual oxidase maturation factor 2 (DUOXA2) gene as a novel cause of congenital hypothyroidism","volume":"93","year":"2008","journal-title":"J Clin Endocrinol Metab"},{"key":"ref331","doi-asserted-by":"crossref","first-page":"1028","DOI":"10.1172\/JCI1504","article-title":"Congenital hypothyroidism due to mutations in the sodium\/iodide symporter. 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