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First case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations

dc.rights.licenseopenen_US
dc.contributor.authorSTOUPA, A.
dc.contributor.authorAL HAGE CHEHADE, G.
dc.contributor.authorKARIYAWASAM, D.
dc.contributor.authorTOHIER, C.
dc.contributor.authorBOLE-FEYSOT, C.
dc.contributor.authorNITSCHKE, P.
hal.structure.identifierBordeaux population health [BPH]
dc.contributor.authorTHIBAULT, Helene
dc.contributor.authorJULLIE, M. L.
dc.contributor.authorPOLAK, M.
dc.contributor.authorCARRÉ, A.
dc.date.accessioned2021-02-17T14:19:49Z
dc.date.available2021-02-17T14:19:49Z
dc.date.issued2020-11
dc.identifier.issn0804-4643en_US
dc.identifier.urihttps://oskar-bordeaux.fr/handle/20.500.12278/26277
dc.description.abstractEnBackground: Among patients with congenital hypothyroidism, 35% have dyshormonogenesis (DH) with thyroid gland in situ 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, DUOX2, and DUOXA2, and are usually inherited on an autosomal recessive basis. Most previously reported cases of fetal hypothyroidism and goiter were related to TG or TPO mutations and recently DUOXA2. Patient: In a male patient with antenatal goiter treated with intraamniotic levothyroxine injections, whose long-term follow-up is described in detail, two novel NIS mutations were detected. Mutations of NIS 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. Conclusions: We report the first case of fetal goitrous hypothyroidism due to two novel NIS 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.
dc.language.isoENen_US
dc.subjectLEHA
dc.title.enFirst case of fetal goitrous hypothyroidism due to SLC5A5/NIS mutations
dc.title.alternativeEur J Endocrinolen_US
dc.typeArticle de revueen_US
dc.identifier.doi10.1530/eje-20-0255en_US
dc.subject.halSciences du Vivant [q-bio]/Santé publique et épidémiologieen_US
dc.identifier.pubmed32805706en_US
bordeaux.journalEuropean Journal of Endocrinologyen_US
bordeaux.pageK1-k5en_US
bordeaux.volume183en_US
bordeaux.hal.laboratoriesBordeaux Population Health Research Center (BPH) - U1219en_US
bordeaux.issue5en_US
bordeaux.institutionUniversité de Bordeauxen_US
bordeaux.teamLEHA_BPH
bordeaux.peerReviewedouien_US
bordeaux.inpressnonen_US
hal.identifierhal-03144350
hal.version1
hal.date.transferred2021-07-02T07:42:06Z
hal.exporttrue
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