{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:34:32Z","timestamp":1745469272014,"version":"3.40.4"},"reference-count":14,"publisher":"S. Karger AG","issue":"5","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Horm Res Paediatr"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>&lt;b&gt;&lt;i&gt;Background:&lt;\/i&gt;&lt;\/b&gt; Dyshormonogenetic goiter refers to familial goiters owing to an inherited defect in the metabolism of thyroid hormones. &lt;b&gt;&lt;i&gt;Methods:&lt;\/i&gt;&lt;\/b&gt; 19 patients with clinical and biochemically proven hypothyroidism (low T&lt;sub&gt;3&lt;\/sub&gt;, FT&lt;sub&gt;4&lt;\/sub&gt; and high TSH) were recruited for the study. All patients were subjected to (i) ultrasound of the neck to rule out thyroid dysgenesis and (ii) technetium-99m radionuclide thyroid scintigraphy and a perchlorate discharge test (PDT). Extrathyroidal malformations were identified by clinical ultrasound (USG) examination of the abdomen and pelvis and by echocardiography. &lt;b&gt;&lt;i&gt;Results:&lt;\/i&gt;&lt;\/b&gt; Out of 19 patients with elevated thyroid uptakes on technetium-99m thyroid scintigraphy, 12 (63%) had a positive PDT and 7 patients (37%) had a negative PDT. All patients were subjected to abdominopelvic USG and echocardiography. Out of 12 patients with a positive PDT, 5 (42%) had associated extrathyroid malformations, 2 had urogenital malformations, and cardiac abnormalities on echocardiography were present in 2 patients (17%). One patient (8%) had features of dysmorphism in the form of a high-arched palate, low-set ears and microcephaly. &lt;b&gt;&lt;i&gt;Conclusion:&lt;\/i&gt;&lt;\/b&gt; Congenital hypothyroidism due to dyshormogenesis is associated with a high prevalence of extrathyroidal malformations and needs to be managed as early as possible to ensure normal neurocognitive development of the children affected.<\/jats:p>","DOI":"10.1159\/000357843","type":"journal-article","created":{"date-parts":[[2014,3,14]],"date-time":"2014-03-14T09:21:04Z","timestamp":1394788864000},"page":"314-318","source":"Crossref","is-referenced-by-count":1,"title":["Thyroid Dyshormonogenesis and Associated Non-Thyroidal Anomalies in a Tertiary Care Hospital in India"],"prefix":"10.1159","volume":"81","author":[{"given":"Tanveer A.","family":"Rather","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shoukat H.","family":"Khan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shariq","family":"Masoodi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mohd Sultan","family":"Alai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2014,3,14]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2004.024158"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2009.03568.x"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1155\/2010\/940980"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2265.2005.02239.x"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(88)92987-X"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1210\/jcem.87.2.8235"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/S0959-437X(99)80043-4"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016\/S1357-4310(99)01620-2"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa0706819"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1210\/en.138.8.3555"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2008.08.023"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.earlhumdev.2011.07.009"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1210\/jc.84.7.2502"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1046\/j.1365-2265.1998.00379.x"}],"container-title":["Hormone Research in Paediatrics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/357843","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/357843","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:32:30Z","timestamp":1745433150000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000357843"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":14,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2014,6,1]]},"published-print":{"date-parts":[[2014,6,12]]}},"URL":"https:\/\/doi.org\/10.1159\/000357843","archive":["Portico"],"relation":{},"ISSN":["1663-2818","1663-2826"],"issn-type":[{"type":"print","value":"1663-2818"},{"type":"electronic","value":"1663-2826"}],"subject":[],"published":{"date-parts":[[2014]]}}}