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.authorAkinci, Aysehan
dc.contributor.authorBircan, Rifat
dc.date.accessioned2024-08-04T20:10:08Z
dc.date.available2024-08-04T20:10:08Z
dc.date.issued2022
dc.departmentİnönü Üniversitesien_US
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.en_US
dc.identifier.doi10.4274/jcrpe.galenos.2020.2020.0229
dc.identifier.endpage118en_US
dc.identifier.issn1308-5727
dc.identifier.issn1308-5735
dc.identifier.issue1en_US
dc.identifier.pmid33443352en_US
dc.identifier.scopus2-s2.0-85111387438en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.startpage114en_US
dc.identifier.trdizinid516030en_US
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2020.2020.0229
dc.identifier.urihttps://search.trdizin.gov.tr/yayin/detay/516030
dc.identifier.urihttps://hdl.handle.net/11616/92604
dc.identifier.volume14en_US
dc.identifier.wosWOS:000778594700014en_US
dc.identifier.wosqualityQ3en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherGalenos Yayinciliken_US
dc.relation.ispartofJournal of Clinical Research in Pediatric Endocrinologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectNeonatal hyperthyroidismen_US
dc.subjectactivating variant of TSHR geneen_US
dc.subjectnon-autoimmune hyperthyroidismen_US
dc.titleTSHRV656F Activating Variant of the Thyroid Stimulating Hormone Receptor Gene in Neonatal Onset Hyperthyroidism: A Case Reviewen_US
dc.typeReview Articleen_US

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