New Cases of Isolated Congenital Central Hypothyroidism Due to Homozygous Thyrotropin Beta Gene Mutations: A Pitfall to Neonatal Screening

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dc.contributor.authorRamos, Helton E. [UNIFESP]
dc.contributor.authorLabedan, Isabelle
dc.contributor.authorCarre, Aurore
dc.contributor.authorCastanet, Mireille
dc.contributor.authorGuemas, Isabelle
dc.contributor.authorTron, Elodie
dc.contributor.authorMadhi, Fouad
dc.contributor.authorDelacourt, Christophe
dc.contributor.authorMaciel, Rui M. B. [UNIFESP]
dc.contributor.authorPolak, Michel
dc.contributor.institutionHop Necker Enfants Malad
dc.contributor.institutionCH Lens
dc.contributor.institutionCtr Hosp Creteil
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniv Paris 05
dc.date.accessioned2016-01-24T13:59:46Z
dc.date.available2016-01-24T13:59:46Z
dc.date.issued2010-06-01
dc.description.abstractBackground: Congenital central hypothyroidism (CCH) is a rare condition that is often diagnosed in late childhood in countries where neonatal screening programs rely solely on detecting thyrotropin (TSH) elevation. TSH beta gene mutation is one of the causes of CCH. We describe two cases of c.Q49X mutation and three cases of c.C105Vfs114X mutation in exon 3 of the TSH beta-subunit gene.Summary: We found two different TSH beta gene mutations in two families. in one family, we identified a missense mutation in exon 3 leading to a premature stop at position 49 (c.Q49X) in the two affected twins. in the other family, the three affected siblings had a 313delT nucleotide deletion leading to a frame shift responsible for premature termination at codon 114 (c.C105Vfs114X); neonatal screening showed very low TSH levels in all three patients. the presence of inappropriately low TSH levels at birth in the three affected members of the second family raises questions about the value of the TSH level for CCH screening.Conclusions: the marked phenotypic variability in patients with the c.Q49X mutation suggests modulation by interacting genes and/or differences in the genetic background. TSH beta gene mutations should be suspected in neonates with inappropriately low TSH levels.en
dc.description.affiliationHop Necker Enfants Malad, Serv Pneumol Pediat, F-75743 Paris 15, France
dc.description.affiliationCH Lens, Serv Pediat, Lens, France
dc.description.affiliationCtr Hosp Creteil, Serv Pediat, Creteil, France
dc.description.affiliationUniversidade Federal de São Paulo, Dept Med, Div Endocrinol, Mol Endocrinol Lab, São Paulo, Brazil
dc.description.affiliationUniv Paris 05, Pediat Endocrine Unit, Paris, France
dc.description.affiliationHop Necker Enfants Malad, AP HP, Ctr Malad Endocriniennes Rares Croissance, Pediat Endocrine Unit,INSERM,U845, F-75743 Paris, France
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Med, Div Endocrinol, Mol Endocrinol Lab, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipElectricite de France
dc.description.sponsorshipEuropean Society for Paediatric Endocrinology Research Unit
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
dc.description.sponsorshipCoordenação de Aperfeiçoamento de Pessoal de Nível Superior (CAPES)
dc.description.sponsorshipVille de Paris
dc.description.sponsorshipIDElectricite de France: RB 200605
dc.description.sponsorshipIDFAPESP: 06/54950-6
dc.format.extent639-645
dc.identifierhttp://dx.doi.org/10.1089/thy.2009.0462
dc.identifier.citationThyroid. New Rochelle: Mary Ann Liebert Inc, v. 20, n. 6, p. 639-645, 2010.
dc.identifier.doi10.1089/thy.2009.0462
dc.identifier.issn1050-7256
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/32608
dc.identifier.wosWOS:000278828600012
dc.language.isoeng
dc.publisherMary Ann Liebert Inc
dc.relation.ispartofThyroid
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.titleNew Cases of Isolated Congenital Central Hypothyroidism Due to Homozygous Thyrotropin Beta Gene Mutations: A Pitfall to Neonatal Screeningen
dc.typeinfo:eu-repo/semantics/article
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