{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,8]],"date-time":"2026-07-08T04:51:04Z","timestamp":1783486264806,"version":"3.55.0"},"reference-count":0,"publisher":"Oxford University Press (OUP)","issue":"5","content-domain":{"domain":["eje.bioscientifica.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2020,11]]},"abstract":"\nBackground:<\/jats:italic><\/jats:title>\nAmong patients with congenital hypothyroidism, 35% have dyshormonogenesis (DH) with thyroid gland in situ<\/jats:italic> with or without goiter. The majority of DH cases are due to mutations in genes involved in thyroid hormone production as TG, TPO, SLC5A5\/NIS, SLC26A4\/PDS, IYD\/DEHAL1<\/jats:italic>, DUOX2<\/jats:italic>, and DUOXA2<\/jats:italic>, and are usually inherited on an autosomal recessive basis. Most previously reported cases of fetal hypothyroidism and goiter were related to TG<\/jats:italic> or TPO<\/jats:italic> mutations and recently DUOXA2<\/jats:italic>.<\/jats:p>\n<\/jats:sec>\n\nPatient:<\/jats:italic><\/jats:title>\nIn a male patient with antenatal goiter treated with intraamniotic levothyroxine injections, whose long-term follow-up is described in detail, two novel NIS<\/jats:italic> mutations were detected. Mutations of NIS<\/jats:italic> were located in exon 1 (c.52G>A, p.G18R) and exon 13 (c.1546C>T, p.R516X), each mutation was inherited from parents, who are healthy carriers. The p.G18R mutation affecting the first transmembrane domain of the protein can be responsible for deficient iodide uptake. However, the second is a nonsense mutation leading probably to mRNA degradation. In addition, the patient has undergone a thyroidectomy and we have studied the thyroid tissue. The thyroid histology showed heterogeneity with large follicles, epithelial hyperplasia and many areas of fibrosis. Immunohistochemistry with NIS specific antibody showed NIS staining at the basolateral plasma membrane of the thyrocytes.<\/jats:p>\n<\/jats:sec>\n\nConclusions:<\/jats:italic><\/jats:title>\nWe report the first case of fetal goitrous hypothyroidism due to two novel NIS<\/jats:italic> mutations with access to thyroid tissue of the patient, specific histology studies and long-term follow-up. This case expands our knowledge and provides further insights on molecular causes of fetal goiter in humans.<\/jats:p>\n<\/jats:sec>","DOI":"10.1530\/eje-20-0255","type":"journal-article","created":{"date-parts":[[2020,8,17]],"date-time":"2020-08-17T15:26:17Z","timestamp":1597677977000},"page":"K1-K5","update-policy":"https:\/\/doi.org\/10.1530\/crossmarkpolicy-7","source":"Crossref","is-referenced-by-count":17,"title":["First case of fetal goitrous hypothyroidism due to SLC5A5\/NIS mutations"],"prefix":"10.1093","volume":"183","author":[{"given":"Athanasia","family":"Stoupa","sequence":"first","affiliation":[{"name":"1INSERM U1016, Cochin Institute, Facult\u00e9 de M\u00e9decine, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France"},{"name":"2IMAGINE Institute affiliate, Paris, France"},{"name":"3Pediatric Endocrinology, Gynecology and Diabetology Unit, H\u00f4pital Universitaire Necker-Enfants Malades, AP-HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ghada","family":"Al Hage Chehade","sequence":"additional","affiliation":[{"name":"3Pediatric Endocrinology, Gynecology and Diabetology Unit, H\u00f4pital Universitaire Necker-Enfants Malades, AP-HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dulanjalee","family":"Kariyawasam","sequence":"additional","affiliation":[{"name":"3Pediatric Endocrinology, Gynecology and Diabetology Unit, H\u00f4pital Universitaire Necker-Enfants Malades, AP-HP, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Celine","family":"Tohier","sequence":"additional","affiliation":[{"name":"1INSERM U1016, Cochin Institute, Facult\u00e9 de M\u00e9decine, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christine","family":"Bole-Feysot","sequence":"additional","affiliation":[{"name":"4Genomics Platform, INSERM UMR 1163, Imagine Institute, Paris Descartes Sorbonne Paris Cite University, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Nitschke","sequence":"additional","affiliation":[{"name":"5Bioinformatics Platform, IMAGINE Institute, Paris Descartes University, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helene","family":"Thibault","sequence":"additional","affiliation":[{"name":"6Pediatric Endocrinology"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Laure","family":"Jullie","sequence":"additional","affiliation":[{"name":"7Department of Pathology, CHU de Bordeaux, Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michel","family":"Polak","sequence":"additional","affiliation":[{"name":"1INSERM U1016, Cochin Institute, Facult\u00e9 de M\u00e9decine, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France"},{"name":"2IMAGINE Institute affiliate, Paris, France"},{"name":"3Pediatric Endocrinology, Gynecology and Diabetology Unit, H\u00f4pital Universitaire Necker-Enfants Malades, AP-HP, Paris, France"},{"name":"8Centre de R\u00e9f\u00e9rence des Maladies Endocriniennes Rares de la Croissance et du D\u00e9veloppement, Necker-Enfants Malades University Hospital, Paris, France"},{"name":"9Centre r\u00e9gional de d\u00e9pistage n\u00e9onatal (CRDN) Ile de France, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aurore","family":"Carr\u00e9","sequence":"additional","affiliation":[{"name":"1INSERM U1016, Cochin Institute, Facult\u00e9 de M\u00e9decine, Universit\u00e9 Paris Descartes, Sorbonne Paris Cit\u00e9, Paris, France"},{"name":"2IMAGINE Institute affiliate, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","container-title":["European Journal of Endocrinology"],"original-title":[],"link":[{"URL":"https:\/\/eje.bioscientifica.com\/view\/journals\/eje\/183\/5\/EJE-20-0255.xml","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/eje.bioscientifica.com\/downloadpdf\/journals\/eje\/183\/5\/EJE-20-0255.xml","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,2,14]],"date-time":"2023-02-14T16:14:47Z","timestamp":1676391287000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/ejendo\/article\/183\/5\/K1\/6653718"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,11]]},"references-count":0,"journal-issue":{"issue":"5"},"URL":"https:\/\/doi.org\/10.1530\/eje-20-0255","relation":{},"ISSN":["0804-4643","1479-683X"],"issn-type":[{"value":"0804-4643","type":"print"},{"value":"1479-683X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,11]]}}}