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Congenital central hypothyroidism caused by a novel thyroid-stimulating hormone-beta subunit gene mutation in two siblings

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dc.contributor.author Özhan, Bayram
dc.contributor.author Anlaş, Ö.B.
dc.contributor.author Sarıkepe, B.
dc.contributor.author Albuz, B.
dc.contributor.author Gündüz, Nur Semerci
dc.date.accessioned 2019-08-16T12:57:12Z
dc.date.available 2019-08-16T12:57:12Z
dc.date.issued 2017
dc.identifier.issn 13085727 (ISSN)
dc.identifier.uri http://acikerisim.pau.edu.tr:8080/xmlui/handle/11499/8931
dc.description.abstract Congenital central hypothyroidism (CCH) is a very rare disease. Alterations in pituitary development genes as well as mutations of immunoglobulin superfamily member 1 and transducin β-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.
dc.language.iso English
dc.publisher Galenos Yayincilik,
dc.relation.isversionof 10.4274/jcrpe.4595
dc.rights info:eu-repo/semantics/openAccess
dc.rights info:eu-repo/semantics/openAccess
dc.subject Congenital
dc.subject Hypothyroidism
dc.subject Thyrotropin deficiency
dc.subject alanine aminotransferase
dc.subject aspartate aminotransferase
dc.subject cholesterol
dc.subject corticotropin
dc.subject creatinine
dc.subject cyanocobalamin
dc.subject follitropin
dc.subject glutamic acid
dc.subject hemoglobin
dc.subject iron
dc.subject luteinizing hormone
dc.subject lysine
dc.subject prolactin
dc.subject somatomedin C
dc.subject testosterone
dc.subject thyrotropin beta subunit
dc.subject thyroxine
dc.subject triacylglycerol
dc.subject abdominal distension
dc.subject adolescent
dc.subject adult
dc.subject anemia
dc.subject Article
dc.subject bradycardia
dc.subject case report
dc.subject clinical article
dc.subject congenital hypothyroidism
dc.subject drug dose increase
dc.subject drug dose titration
dc.subject dry skin
dc.subject echocardiography
dc.subject epiphysis injury
dc.subject exon
dc.subject female
dc.subject free thyroxine index
dc.subject gene
dc.subject gene mutation
dc.subject genetic analysis
dc.subject hair growth
dc.subject human
dc.subject hypotension
dc.subject hypothalamus hypophysis adrenal system
dc.subject kyphoscoliosis
dc.subject low drug dose
dc.subject male
dc.subject myxedema
dc.subject nuclear magnetic resonance imaging
dc.subject polymerase chain reaction
dc.subject psychomotor disorder
dc.subject scoring system
dc.subject tachycardia
dc.subject thyrotropin blood level
dc.subject TSHB gene
dc.subject umbilical hernia
dc.subject young adult
dc.subject genetics
dc.subject mutation
dc.subject sibling
dc.subject Adolescent
dc.subject Congenital Hypothyroidism
dc.subject Female
dc.subject Humans
dc.subject Male
dc.subject Mutation
dc.subject Siblings
dc.subject Thyrotropin, beta Subunit
dc.subject Turkey
dc.subject Young Adult
dc.title Congenital central hypothyroidism caused by a novel thyroid-stimulating hormone-beta subunit gene mutation in two siblings
dc.type Article
dc.relation.journal JCRPE Journal of Clinical Research in Pediatric Endocrinology
dc.contributor.authorID 0000-0001-5287-8526
dc.identifier.volume 9
dc.identifier.issue 3
dc.identifier.startpage 278
dc.identifier.endpage 282
dc.relation.publicationCategory Uluslararası Hakemli Dergi
dc.identifier.index Scopus
dc.identifier.index WOS
dc.identifier.index PubMed
dc.identifier.index TRDizin

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