Genetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism

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dc.authorid0000-0001-5291-8620
dc.authorscopusid16241650400
dc.authorscopusid24462378900
dc.authorscopusid8416126500
dc.authorscopusid7103181040
dc.authorwosidBircan, Rıfat/A-7344-2018
dc.contributor.authorGözü, Hülya İliksu
dc.contributor.authorLueblinghoff, Julia
dc.contributor.authorBircan, Rifat
dc.contributor.authorPaschke, Ralf
dc.date.accessioned2022-05-11T14:28:25Z
dc.date.available2022-05-11T14:28:25Z
dc.date.issued2010
dc.departmentFakülteler, Fen Edebiyat Fakültesi, Biyoloji Bölümü
dc.description.abstractTSH receptor (TSHR) germline mutations occur as activating mutations in familial non-autoimmune hyperthyroidism (FNAH) or sporadic non-autoimmune hyperthyroidism (SNAH). Up to date 17 constitutively activating TSHR mutations have been reported in 24 families with FNAH. The diagnosis of FNAH should be considered in cases with a positive family history, early onset of hyperthyroidism, goiter, absence of clinical stigmata of autoimmunity and recurrent hyperthyroidism. Moreover, 14 subjects with sporadic non-autoimmune hyperthyroidism and 10 different TSH receptor germline mutations have been reported. The main characteristic of SNAH is a negative family history. Additional consequences of prolonged neonatal hyperthyroidism (mental retardation, speech disturbances and craniosynostosis) have often been reported in SNAH. No genotype-phenotype relationship has been reported in patients with germline TSHR mutations. There is no association of in vitro activities determined by linear regression analysis (LRA) and several clinical indicators of hyperthyroidism activity for SNAH. However, the comparison of the LRA values of sporadic TSHR mutations with LRA values of familial TSHR mutations does show a significantly higher median LRA value for sporadic as compared to familial autosomal dominant hyperthyroidism. This finding is in line with the clinical impression of a more active clinical course in patients with SNAH. However, additional genetic, constitutional or environmental factors are most likely responsible for the phenotypic variations of the disease and the lack of correlation between in vitro activities of the TSHR mutations and the severity of hyperthyroidism. (C) 2010 Elsevier Ireland Ltd. All rights reserved.
dc.identifier.doi10.1016/j.mce.2010.02.001
dc.identifier.endpage134
dc.identifier.issn0303-7207
dc.identifier.issn1872-8057
dc.identifier.issue45323en_US
dc.identifier.pmid20138963
dc.identifier.scopus2-s2.0-77952879300
dc.identifier.scopusqualityQ2
dc.identifier.startpage125
dc.identifier.urihttps://doi.org/10.1016/j.mce.2010.02.001
dc.identifier.urihttps://hdl.handle.net/20.500.11776/6817
dc.identifier.volume322
dc.identifier.wosWOS:000278644300015
dc.identifier.wosqualityQ2
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorBircan, Rifat
dc.language.isoen
dc.publisherElsevier Ireland Ltd
dc.relation.ispartofMolecular and Cellular Endocrinology
dc.relation.publicationcategoryDiğeren_US
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectGermline TSH receptor mutations
dc.subjectThyrotropin Receptor Gene
dc.subjectActivating Germline Mutation
dc.subjectStimulating Hormone-Receptor
dc.subjectTerm-Follow-Up
dc.subjectTsh Receptor
dc.subjectCongenital Hyperthyroidism
dc.subjectNonautoimmune Hyperthyroidism
dc.subjectFamilial Hyperthyroidism
dc.subjectExpression
dc.subjectThyrotoxicosis
dc.titleGenetics and phenomics of inherited and sporadic non-autoimmune hyperthyroidism
dc.typeReview Article

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