{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,23]],"date-time":"2026-09-23T14:13:12Z","timestamp":1790172792364,"version":"4.1.0"},"reference-count":44,"publisher":"Walter de Gruyter GmbH","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2017,1,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background:<\/jats:title><jats:p>Primary nonautoimmune hyperthyroidism is a rare cause of neonatal hyperthyroidism. This results from an activating mutation in the thyrotropin-receptor (TSHR). It can be inherited in an autosomal dominant manner or occur sporadically as a de novo mutation. Affected individuals display a wide phenotype from severe neonatal to mild subclinical hyperthyroidism. We describe a 6-month-old boy with a de novo mutation in the<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods:<\/jats:title><jats:p>Genomic DNA from the patient\u2019s and parents\u2019 peripheral blood leukocytes was extracted. Exons 9 and 10 of the<\/jats:p><\/jats:sec><jats:sec><jats:title>Results:<\/jats:title><jats:p>Sequencing exon 10 of the<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions:<\/jats:title><jats:p>The p.Leu512Met mutation (c.1534C&gt;A) of the<\/jats:p><\/jats:sec>","DOI":"10.1515\/jpem-2016-0185","type":"journal-article","created":{"date-parts":[[2017,2,14]],"date-time":"2017-02-14T10:02:21Z","timestamp":1487066541000},"source":"Crossref","is-referenced-by-count":10,"title":["Novel germline mutation (Leu512Met) in the thyrotropin receptor gene (TSHR) leading to sporadic non-autoimmune hyperthyroidism"],"prefix":"10.1515","volume":"30","author":[{"given":"Stephanie A.","family":"Roberts","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer E.","family":"Moon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Dauber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jessica R.","family":"Smith","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"374","reference":[{"key":"ref411","first-page":"287","article-title":"Autonomously functioning thyroid nodules in a former iodine-deficient area commonly harbor gain-of function mutations in the thyrotropin signaling pathway","volume":"149","year":"2003","journal-title":"Eur J Endocrinol"},{"key":"ref371","first-page":"471","article-title":"A novel activating mutation in the thyrotropin receptor gene in an autonomously functioning thyroid nodule developed by a Japanese patient","volume":"143","year":"2000","journal-title":"Eur J Endocrinol"},{"key":"ref131","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1530\/eje.1.02253","article-title":"Similar prevalence of somatic TSH receptor and GSalpha mutations in toxic thyroid nodules in geographical regions with different iodine supply in Turkey","volume":"155","year":"2006","journal-title":"Eur J Endocrinol"},{"key":"ref311","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.mce.2010.02.001","article-title":"Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism","volume":"322","year":"2010","journal-title":"Mol Cell Endocrinol"},{"key":"ref231","volume-title":"Endotext [Internet]","year":"2000"},{"key":"ref211","first-page":"228","article-title":"Lack of consistent association of TSH receptor mutations in vitro activity with the clinical course of patients with sporadic non-autoimmune hyperthyroidism","volume":"33","year":"2009","journal-title":"J Endocrinol Invest"},{"key":"ref81","doi-asserted-by":"crossref","first-page":"125","DOI":"10.1016\/j.mce.2010.02.001","article-title":"Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism","volume":"322","year":"2010","journal-title":"Mol Cell Endocrinol"},{"key":"ref201","doi-asserted-by":"crossref","first-page":"623","DOI":"10.1530\/EJE-08-0313","article-title":"Prevalence of mutations in the TSHR, GNAS, PRKAR1A and RAS genes in a large series of toxic thyroid adenomas from Galacia, an iodine-deficient area in NW Spain","volume":"159","year":"2008","journal-title":"Eur J Endocrinol"},{"key":"ref291","doi-asserted-by":"crossref","first-page":"327","DOI":"10.1089\/thy.2009.0182","article-title":"Hyperthyroidism caused by a germline activating mutation of the thyrotropin receptor gene: difficulties in diagnosis and 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