Alopecia: Association with Resistance to Thyroid Hormones

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dc.authorid0000-0001-5291-8620
dc.authorid0000-0002-6584-9043
dc.authorid0000-0002-5172-5402
dc.authorscopusid13612528100
dc.authorscopusid8416126500
dc.authorscopusid57218823942
dc.authorscopusid7004903391
dc.authorwosidBircan, Rıfat/A-7344-2018
dc.authorwosidbereket, abdullah/V-3793-2018
dc.authorwosidTuran, Serap/U-7195-2018
dc.contributor.authorGüran, Tülay
dc.contributor.authorBircan, Rifat
dc.contributor.authorTuran, Serap
dc.contributor.authorBereket, Abdullah
dc.date.accessioned2022-05-11T14:28:23Z
dc.date.available2022-05-11T14:28:23Z
dc.date.issued2009
dc.departmentFakülteler, Fen Edebiyat Fakültesi, Biyoloji Bölümü
dc.description.abstractResistance to thyroid hormone (RTH) syndrome is caused by thyroid hormone beta receptor (TR beta) mutations. Goiter, learning disabilities, psychological abnormalities, sinus tachycardia, hearing deficits, short stature, and growth delay are among the most common symptoms in patients with RTH. Alopecia areata (AA) is an autoimmune disease of the hair follicle, frequently associated with other autoimmune disorders. In some cases local alopecia of different genetic backgrounds could be misdiagnosed as AA. We describe here clinical, biochemical and genetic features of a family having RTH syndrome, caused by a novel TR beta mutation, coexistent with alopecia. Mutational analyses of the TR beta gene and the hairless gene (HR) in genomic DNA were performed. The index patient is a 9-(4)/(12) year-old boy with RTH due to a novel heterozygous missense mutation of the TR beta gene (I353V), and diffuse, patchy alopecia without autoimmune thyroid disease. This mutation was also detected in his father and elder brother, who also have local alopecia. One of his paternal aunts and paternal grandmother have local alopecia and they have previously been operated for goiter. Although they refused any genetic analysis, the pre-operative medical report of the paternal aunt was compatible with RTH. A second paternal aunt has alopecia totalis universalis but has no RTH mutation in genomic DNA. Genomic DNA sequence of the HR gene of the family (index patient, two brothers, father, mother and second paternal aunt) was normal as well. Conclusion: We speculate that RTH due to a novel I353V TR beta 1 mutation could be causally related to different phenotypic expressions of alopecia in this family, either by a direct effect of unresponsiveness to T3 of the hair follicle or by the modulated action of the HR gene.
dc.identifier.endpage1081
dc.identifier.issn0334-018X
dc.identifier.issue11en_US
dc.identifier.pmid20101894
dc.identifier.scopus2-s2.0-75749149775
dc.identifier.scopusqualityQ2
dc.identifier.startpage1075
dc.identifier.urihttps://hdl.handle.net/20.500.11776/6808
dc.identifier.volume22
dc.identifier.wosWOS:000273080400012
dc.identifier.wosqualityQ4
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.institutionauthorBircan, Rifat
dc.language.isoen
dc.publisherFreund Publishing House Ltd
dc.relation.ispartofJournal of Pediatric Endocrinology & Metabolism
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectthyroid hormone receptor beta (TR beta) mutation
dc.subjectresistance to thyroid hormone
dc.subjectalopecia
dc.subjecthairless gene
dc.subjectalopecia totalis universalis
dc.subjectHuman Hairless Gene
dc.subjectReceptor-Beta Gene
dc.subjectAreata
dc.subjectChildren
dc.subjectMutation
dc.subjectAutoimmunity
dc.subjectKindreds
dc.subjectFamily
dc.titleAlopecia: Association with Resistance to Thyroid Hormones
dc.typeArticle

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