{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,4]],"date-time":"2026-04-04T13:06:38Z","timestamp":1775307998795,"version":"3.50.1"},"reference-count":14,"publisher":"Walter de Gruyter GmbH","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,2,23]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec id=\"j_jpem-2020-0291_abs_001_w2aab3b7c16b1b6b1aab1c16b1Aa\">\n                  <jats:title>Objectives<\/jats:title>\n                  <jats:p>Activating germline mutations of the thyroid-stimulating hormone receptor (TSHR) are responsible for a rare form of neonatal nonautoimmune hyperthyroidism (NAH). We report the first case of familial neonatal neonatal nonautoimmune associated with c.1856A&gt;G (p.Asp619Gly) variant in the TSHR gene.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0291_abs_002_w2aab3b7c16b1b6b1aab1c16b2Aa\">\n                  <jats:title>Case presentation<\/jats:title>\n                  <jats:p>We describe an eight-year-old African-American female presenting with neonatal NAH associated with an inherited heterozygous c.1856A&gt;G (p.Asp619Gly) variant in the TSHR gene. This variant was previously described in one patient presenting with sporadic NAH in adolescence. Our patient was diagnosed with hyperthyroidism in the neonatal period. The mother had a history of hyperthyroidism and had thyroidectomy at the age of 4 years. The patient had goiter and elevated free thyroxine (FT4) and free triiodothyronine (FT3) levels that normalized with methimazole treatment; however, TSH level remained suppressed. Thyroid antibodies were negative. The patient also had bilateral exotropia, a trait shared by the mother and may represent a new association.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec id=\"j_jpem-2020-0291_abs_003_w2aab3b7c16b1b6b1aab1c16b3Aa\">\n                  <jats:title>Conclusions<\/jats:title>\n                  <jats:p>Familial neonatal NAH is associated with heterozygous c.1856A&gt;G (p.Asp619Gly) variant of the TSHR gene.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1515\/jpem-2020-0291","type":"journal-article","created":{"date-parts":[[2020,11,17]],"date-time":"2020-11-17T08:09:20Z","timestamp":1605600560000},"page":"267-271","source":"Crossref","is-referenced-by-count":5,"title":["Familial neonatal nonautoimmune hyperthyroidism due to a gain-of-function (D619G) thyrotropin-receptor mutation"],"prefix":"10.1515","volume":"34","author":[{"given":"Doris","family":"Taha","sequence":"first","affiliation":[{"name":"Division of Pediatric Endocrinology , Central Michigan University College of Medicine, Children\u2019s Hospital of Michigan , Detroit , MI , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amita","family":"Adhikari","sequence":"additional","affiliation":[{"name":"Division of Pediatric Endocrinology , Central Michigan University College of Medicine, Children\u2019s Hospital of Michigan , Detroit , MI , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leigh Anne","family":"Flore","sequence":"additional","affiliation":[{"name":"Division of Genetic, Metabolic and Genomic Disorders , Central Michigan University College of Medicine, Children\u2019s Hospital of Michigan , Detroit , MI , USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"374","published-online":{"date-parts":[[2020,11,13]]},"reference":[{"key":"2023040100571176522_j_jpem-2020-0291_ref_001_w2aab3b7c16b1b6b1ab2b1b1Aa","doi-asserted-by":"crossref","unstructured":"H\u00e9brant, A, Van Sande, J, Roger, P, Patey, M, Klein, M, Bournaud, C, et al.. Thyroid gene expression in familial nonautoimmune hyperthyroidism shows common characteristics with hyperfunctioning autonomous adenomas. J Clin Endocrinol Metab 2009;94:2602\u20139. https:\/\/doi.org\/10.1210\/jc.2008-2191.","DOI":"10.1210\/jc.2008-2191"},{"key":"2023040100571176522_j_jpem-2020-0291_ref_002_w2aab3b7c16b1b6b1ab2b1b2Aa","doi-asserted-by":"crossref","unstructured":"Arturi, F, Chiefari, E, Tumino, S, Russo, D, Squatrito, S, Chazenbalk, G, et al.. Similarities and differences in the phenotype of members of an Italian family with hereditary non-autoimmune hyperthyroidism associated with an activating TSH receptor germline mutation. J Endocrinol Invest 2002;25:696\u2013701. https:\/\/doi.org\/10.1007\/bf03345103.","DOI":"10.1007\/BF03345103"},{"key":"2023040100571176522_j_jpem-2020-0291_ref_003_w2aab3b7c16b1b6b1ab2b1b3Aa","doi-asserted-by":"crossref","unstructured":"Leclere, J, Bene, MC, Aubert, V, Klein, M, Pascal-Vigneron, V, Weryha, G, et al.. 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