TSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Review

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dc.authoridÇamtosun, Emine/0000-0002-8144-4409
dc.authorwosidÇamtosun, Emine/AAE-3945-2020
dc.contributor.authorKayas, Leman
dc.contributor.authorCamtosun, Emine
dc.contributor.authorAkıncı, Ayşehan
dc.contributor.authorBircan, Rıfat
dc.date.accessioned2023-04-20T08:01:19Z
dc.date.available2023-04-20T08:01:19Z
dc.date.issued2022
dc.departmentFakülteler, Fen Edebiyat Fakültesi, Biyoloji Bölümü
dc.description.abstractAn activating variant of the thyroid stimulating hormone receptor (TSHR) gene is one of the rare causes of neonatal hyperthyroidism. This disorder may occur as a result of an autosomal dominant inheritance or sporadically through de novo variation. Here we present a case of neonatal onset congenital non-autoimmune hyperthyroidism (NAH) with a sporadic germline activating TSHRV656F variant. A female infant with tachycardia, who was transferred due to hyperthyroidism in the first week of life, displayed no other symptoms or signs. The patient's mother did not have Graves' disease, and TSHR stimulating antibodies were not present in the mother or baby. Imaging showed thyroid gland hyperplasia and left ventricular hypertrophy, the patient was subsequently put on methimazole treatment. After six months undergoing treatment, a heterozygous p.Val656Phe (V656F) (c.1966G>T) variant was detected on exon 10 of the TSHR gene. The variant was not identified in the mother and father, so the case was assumed to be sporadic. In conclusion, although the literature describes V656F variant as a somatic variant in children and adults with toxic thyroid nodule(s) that results in the structural activation of the TSH receptor, no previous cases of neonatal hyperthyroidism due to TSHRV656F variant have been reported. This study is the first case review that highlights the relationship between TSHRV656F variant and neonatal onset NAH.
dc.identifier.doi10.4274/jcrpe.galenos.2020.2020.0229
dc.identifier.endpage118
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue1en_US
dc.identifier.pmid33443352
dc.identifier.scopus2-s2.0-85111387438
dc.identifier.scopusqualityQ2
dc.identifier.startpage114
dc.identifier.trdizinid516030
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2020.2020.0229
dc.identifier.urihttps://hdl.handle.net/20.500.11776/10873
dc.identifier.volume14
dc.identifier.wosWOS:000778594700014
dc.identifier.wosqualityQ3
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.indekslendigikaynakPubMed
dc.institutionauthorBircan, Rıfat
dc.language.isoen
dc.publisherGalenos Yayincilik
dc.relation.ispartofJournal of Clinical Research In Pediatric Endocrinology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectNeonatal Hyperthyroidism
dc.subjectActivating Variant Of Tshr Gene
dc.subjectNon-Autoimmune Hyperthyroidism
dc.subjectCongenital Hyperthyroidism
dc.subjectSomatic Mutations
dc.subjectTsh Receptor
dc.subjectNodules
dc.subjectPrevalence
dc.titleTSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Review
dc.typeReview Article

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