Please use this identifier to cite or link to this item: https://hdl.handle.net/11499/8931
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dc.contributor.authorÖzhan, Bayram-
dc.contributor.authorAnlaş, Ö.B.-
dc.contributor.authorSarıkepe, B.-
dc.contributor.authorAlbuz, B.-
dc.contributor.authorGündüz, Nur Semerci-
dc.date.accessioned2019-08-16T12:57:12Z-
dc.date.available2019-08-16T12:57:12Z-
dc.date.issued2017-
dc.identifier.issn1308-5727-
dc.identifier.urihttps://hdl.handle.net/11499/8931-
dc.identifier.urihttps://doi.org/10.4274/jcrpe.4595-
dc.description.abstractCongenital central hypothyroidism (CCH) is a very rare disease. Alterations in pituitary development genes as well as mutations of immunoglobulin superfamily member 1 and transducin ß-like protein 1 can result in CCH and multiple pituitary hormone deficiencies. However, mutations of the thyrotropin-releasing hormone receptor or thyroid-stimulating hormone-beta (TSHB) gene are responsible for isolated CCH. In this paper, we present the cases of two siblings with a novel mutation of TSHB. Direct sequencing of the coding regions and exon/intron boundaries of the TSHB gene revealed two homozygous nucleotides changes. One of them was c.40A>G (rs10776792) which is a very common variation that is also seen in healthy individuals, the other was c.94G>A at codon 32 of exon 2 which resulted in a change from glutamic acid to lysine (p.E32K). Both patients were homozygous and the parents were heterozygous. © 2017 by Turkish Pediatric Endocrinology and Diabetes Society.en_US
dc.language.isoenen_US
dc.publisherGalenos Yayincilik,en_US
dc.relation.ispartofJCRPE Journal of Clinical Research in Pediatric Endocrinologyen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCongenitalen_US
dc.subjectHypothyroidismen_US
dc.subjectThyrotropin deficiencyen_US
dc.subjectalanine aminotransferaseen_US
dc.subjectaspartate aminotransferaseen_US
dc.subjectcholesterolen_US
dc.subjectcorticotropinen_US
dc.subjectcreatinineen_US
dc.subjectcyanocobalaminen_US
dc.subjectfollitropinen_US
dc.subjectglutamic aciden_US
dc.subjecthemoglobinen_US
dc.subjectironen_US
dc.subjectluteinizing hormoneen_US
dc.subjectlysineen_US
dc.subjectprolactinen_US
dc.subjectsomatomedin Cen_US
dc.subjecttestosteroneen_US
dc.subjectthyrotropin beta subuniten_US
dc.subjectthyroxineen_US
dc.subjecttriacylglycerolen_US
dc.subjectabdominal distensionen_US
dc.subjectadolescenten_US
dc.subjectadulten_US
dc.subjectanemiaen_US
dc.subjectArticleen_US
dc.subjectbradycardiaen_US
dc.subjectcase reporten_US
dc.subjectclinical articleen_US
dc.subjectcongenital hypothyroidismen_US
dc.subjectdrug dose increaseen_US
dc.subjectdrug dose titrationen_US
dc.subjectdry skinen_US
dc.subjectechocardiographyen_US
dc.subjectepiphysis injuryen_US
dc.subjectexonen_US
dc.subjectfemaleen_US
dc.subjectfree thyroxine indexen_US
dc.subjectgeneen_US
dc.subjectgene mutationen_US
dc.subjectgenetic analysisen_US
dc.subjecthair growthen_US
dc.subjecthumanen_US
dc.subjecthypotensionen_US
dc.subjecthypothalamus hypophysis adrenal systemen_US
dc.subjectkyphoscoliosisen_US
dc.subjectlow drug doseen_US
dc.subjectmaleen_US
dc.subjectmyxedemaen_US
dc.subjectnuclear magnetic resonance imagingen_US
dc.subjectpolymerase chain reactionen_US
dc.subjectpsychomotor disorderen_US
dc.subjectscoring systemen_US
dc.subjecttachycardiaen_US
dc.subjectthyrotropin blood levelen_US
dc.subjectTSHB geneen_US
dc.subjectumbilical herniaen_US
dc.subjectyoung adulten_US
dc.subjectgeneticsen_US
dc.subjectmutationen_US
dc.subjectsiblingen_US
dc.subjectAdolescenten_US
dc.subjectCongenital Hypothyroidismen_US
dc.subjectFemaleen_US
dc.subjectHumansen_US
dc.subjectMaleen_US
dc.subjectMutationen_US
dc.subjectSiblingsen_US
dc.subjectThyrotropin, beta Subuniten_US
dc.subjectTurkeyen_US
dc.subjectYoung Adulten_US
dc.titleCongenital central hypothyroidism caused by a novel thyroid-stimulating hormone-beta subunit gene mutation in two siblingsen_US
dc.typeArticleen_US
dc.identifier.volume9en_US
dc.identifier.issue3en_US
dc.identifier.startpage278en_US
dc.identifier.endpage282en_US
dc.authorid0000-0001-5287-8526-
dc.identifier.doi10.4274/jcrpe.4595-
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.identifier.pmid28515030en_US
dc.identifier.scopus2-s2.0-85029118540en_US
dc.identifier.trdizinid233652en_US
dc.identifier.wosWOS:000410406300014en_US
dc.identifier.scopusqualityQ2-
dc.ownerPamukkale University-
item.fulltextWith Fulltext-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
item.languageiso639-1en-
item.grantfulltextopen-
item.openairetypeArticle-
crisitem.author.dept14.02. Internal Medicine-
Appears in Collections:PubMed İndeksli Yayınlar Koleksiyonu / PubMed Indexed Publications Collection
Scopus İndeksli Yayınlar Koleksiyonu / Scopus Indexed Publications Collection
Tıp Fakültesi Koleksiyonu
TR Dizin İndeksli Yayınlar Koleksiyonu / TR Dizin Indexed Publications Collection
WoS İndeksli Yayınlar Koleksiyonu / WoS Indexed Publications Collection
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