Coexistence of THRB and TBG Gene Mutations in a Turkish Family

Basit Öğe Kaydı
dc.contributor.authorFerrara, Alfonso Massimiliano
dc.contributor.authorCakir, Mehtap
dc.contributor.authorHenry, Phillip H.
dc.contributor.authorRefetoff, Samuel
dc.date.accessioned2024-02-23T14:31:12Z
dc.date.available2024-02-23T14:31:12Z
dc.date.issued2013
dc.departmentNEÜen_US
dc.description.abstractObjective: Resistance to thyroid hormone is a syndrome characterized by high serum free T-4 levels and unsuppressed serum TSH concentration. Thyroxine-binding globulin complete deficiency manifests with low serum total T-4 and T-3 levels and normal serum TSH concentration. Our objective is to describe a family with the coexistence of resistance to thyroid hormone and thyroxine-binding globulin complete deficiency. Methods: We conducted clinical studies and genetic analyses. Results: The proband presented with mental retardation, hearing loss, and recurrent upper respiratory tract infections accompanied by high serum levels of TSH, T-3, T-4, and high thyroglobulin antibody titers. His elder sister presented with normal TSH and T-3 and high serum T-4 levels. Both patients were found to be heterozygous for the mutation P453A in the thyroid hormone receptor beta (THRB) gene. One of the proband's brothers had low serum total T-3 and T-4 and normal TSH concentrations, without any clinical manifestations. He was hemizygous for the mutation P50fs51X in the TBG gene. The proband's mother showed slightly elevated TSH, normal total T-3 and T-4, and elevated titers of thyroperoxidase antibodies and thyroglobulin antibodies. She was heterozygous for both THRB and TBG genes mutations. Conclusions: To our knowledge, this is the first report of the coexistence of THRB and TBG gene mutations in the same individual (mother of the proband), whereas other affected family members had only 1 of the 2 genes mutated. The case illustrates the difficulty that might be encountered in the interpretation of thyroid function tests when different genetic defects affecting thyroid function coexist.en_US
dc.description.sponsorshipNational Institutes of Health [R37DK15070, 5M01RR04999]en_US
dc.description.sponsorshipThis work was supported in part by Grants R37DK15070 and 5M01RR04999 from the National Institutes of Health. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.en_US
dc.identifier.doi10.1210/jc.2013-1413
dc.identifier.endpageE1151en_US
dc.identifier.issn0021-972X
dc.identifier.issue6en_US
dc.identifier.pmid23633200en_US
dc.identifier.scopus2-s2.0-84878487403en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpageE1148en_US
dc.identifier.urihttps://doi.org/10.1210/jc.2013-1413
dc.identifier.urihttps://hdl.handle.net/20.500.12452/15090
dc.identifier.volume98en_US
dc.identifier.wosWOS:000319736500017en_US
dc.identifier.wosqualityQ1en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherEndocrine Socen_US
dc.relation.ispartofJournal Of Clinical Endocrinology & Metabolismen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subject[Keyword Not Available]en_US
dc.titleCoexistence of THRB and TBG Gene Mutations in a Turkish Familyen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu