Genetic testing can change diagnosis and treatment in children with congenital hypothyroidism

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dc.authoridGumuskaptan, Cagri/0000-0002-8600-172X
dc.authoridKara, Cengiz/0000-0002-8989-560X
dc.authoridIzci Gullu, Elif/0000-0002-5198-8325
dc.authorwosidGumuskaptan, Cagri/HGA-1855-2022
dc.contributor.authorKara, Cengiz
dc.contributor.authorMammadova, Jamala
dc.contributor.authorAbur, Ummet
dc.contributor.authorGumuskaptan, Cagri
dc.contributor.authorGullu, Elif Izci
dc.contributor.authorDagdemir, Ayhan
dc.contributor.authorAydin, Murat
dc.date.accessioned2024-05-19T14:40:23Z
dc.date.available2024-05-19T14:40:23Z
dc.date.issued2023
dc.departmentİstinye Üniversitesien_US
dc.description.abstractObjective: Guidelines on congenital hypothyroidism (CH) recommend that genetic testing should aim to improve diagnosis, treatment or prognosis, but it is unclear which patients would benefit most from the genetic investigation. We aimed to i nvestigate the genetic etiology of transient CH (TCH) and permanent CH (PCH) in a well-characterized cohort, and thereby evaluate the impact of genetic testing on the management and prognosis of children with CH. Methods: A total of 48 CH patients with normal, goitrous (n = 5) or hypoplastic thyroid (n = 5) were studied by high-throughput sequencing using a custom-designed 23-gene panel. Patients initially categorized as TCH ( n = 15), PCH (n = 26) and persistent hyperthyrotropinemia (PHT, n = 7) were re-evaluated after genetic testing. Results: Re-evaluation based on genetic testing changed the initial diagnoses from PCH to PHT (n = 2) or TCH (n = 3) and from PHT to TCH (n = 5), which resulted in a final distribution of TCH (n = 23), PCH (n = 21) and PHT (n = 4). Genetic analysis also allowed us to discontinue treatment in five patients with monoallelic TSHR or DUOX2, or no pathogenic variants. The main reasons for changes in diagnosis and treatment were the detection of monoallelic TSHR variants and the misdiagnosis of thyroid hypoplasia on neonatal ultrasound in low birthweight infants. A total of 4 1 ( 35 different, 15 novel) variants were detected in 65% (n = 31) of the cohort. These variants, which most frequently affected TG, TSHR and DUOX2, explained the genetic etiology in 46% (n = 22) of the patients. The molecular diagnosis rate was significantly hig her in patients with PCH (57%, n = 12) than TCH (26%, n = 6). Conclusions: Genetic testing can change diagnosis and treatment decisions in a small proportion of children with CH, but the resulting benefit may ou tweigh the burden of lifelong follow- up and treatment.en_US
dc.description.sponsorshipThe authors would like to thank the patients and their families, and Atagen Healthcare Products and Laboratory Services, without whom this study could not be carried out.en_US
dc.description.sponsorshipThe authors would like to thank the patients and their families, and Atagen Healthcare Products and Laboratory Services, without whom this study could not be carried out.en_US
dc.identifier.doi10.1530/ETJ-22-0212
dc.identifier.issn2235-0640
dc.identifier.issn2235-0802
dc.identifier.issue3en_US
dc.identifier.pmid36913313en_US
dc.identifier.scopus2-s2.0-85160256222en_US
dc.identifier.scopusqualityQ2en_US
dc.identifier.urihttps://doi.org10.1530/ETJ-22-0212
dc.identifier.urihttps://hdl.handle.net/20.500.12713/4952
dc.identifier.volume12en_US
dc.identifier.wosWOS:001057828200003en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.language.isoenen_US
dc.publisherBioscientifica Ltden_US
dc.relation.ispartofEuropean Thyroid Journalen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmz20240519_kaen_US
dc.subjectCongenital Hypothyroidismen_US
dc.subjectGenetic Testingen_US
dc.subjectPersistent Hyperthyrotropinemiaen_US
dc.subjectThyroid Hypoplasiaen_US
dc.subjectTsh Resistanceen_US
dc.titleGenetic testing can change diagnosis and treatment in children with congenital hypothyroidismen_US
dc.typeArticleen_US

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