A Genetics Study in the Foreskin of Boys with Hypospadias

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dc.authoridGürkan, Hakan/0000-0002-8967-6124
dc.authoridInanc, Irem/0000-0003-1162-8613
dc.authorwosidİnanç, İrem/JFA-1712-2023
dc.authorwosidGürkan, Hakan/AAF-2866-2020
dc.contributor.authorInanc, Irem
dc.contributor.authorAvlan, Dincer
dc.contributor.authorEker, Damla
dc.contributor.authorGurkan, Hakan
dc.date.accessioned2024-06-12T11:03:37Z
dc.date.available2024-06-12T11:03:37Z
dc.date.issued2023
dc.departmentTrakya Üniversitesien_US
dc.description.abstractIntroduction: Hypospadias is a malformation of the genitourinary system in males, characterized by the placement of the urethral opening in the ventral surface of the penis. Although controversies continue about etiology, endocrine disrupting chemicals that disrupt normal endocrine signaling at the receptor or signal transduction level are thought to play an essential role in etiology. This study aimed to investigate the receptor gene expressions of the sex hormones and FGFR2, HOXA13, and TGFB1, which are considered to play an essential role in developing hypospadias. Methods: The samples from the foreskin of 26 patients with hypospadias and 26 healthy children who underwent circumcision operations were collected. ESR1, AR, FGFR2, HOXA13, and TGFB gene expressions were investigated by real-time PCR in samples obtained during surgery. Results: In the hypospadias group, ESR1 expression was increased (p = 0.013), and AR and FGFR2 expressions were decreased, which were found to be statistically significant (p = 0.027 and p = 0.003, respectively). There was no statistically significant difference between hypospadias and control groups in TGFBand HOXA13expression levels (p > 0.05). Discussion: The results suggest that sex hormone receptors and FGFR2 may play an essential role in developing male external genital structures at the gene level. The defects in the expression of these genes can contribute to understanding the development of hypospadias.en_US
dc.description.sponsorshipTrakya University Scientific Research Projects Unit [2019/67]en_US
dc.description.sponsorshipThis study was supported by Trakya University Scientific Research Projects Unit as project number 2019/67. There is no involvement in the study design; in the collection, analysis, and interpretation of data; in the writing of the manuscript; and in the decision to submit the manuscript for publication by sponsor.en_US
dc.identifier.doi10.1159/000527405
dc.identifier.endpage190en_US
dc.identifier.issn1661-8769
dc.identifier.issn1661-8777
dc.identifier.issue3en_US
dc.identifier.pmid37323199en_US
dc.identifier.scopus2-s2.0-85147431275en_US
dc.identifier.scopusqualityQ4en_US
dc.identifier.startpage185en_US
dc.identifier.urihttps://doi.org/10.1159/000527405
dc.identifier.urihttps://hdl.handle.net/20.500.14551/21725
dc.identifier.volume14en_US
dc.identifier.wosWOS:000919320400001en_US
dc.identifier.wosqualityN/Aen_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherKargeren_US
dc.relation.ispartofMolecular Syndromologyen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectHypospadiasen_US
dc.subjectFGFR2en_US
dc.subjectEstrogenen_US
dc.subjectAndrogenen_US
dc.subjectRNAen_US
dc.subjectEstrogen-Receptor-Alphaen_US
dc.subjectAndrogen Receptoren_US
dc.subjectExternal Genitaliaen_US
dc.subjectExpressionen_US
dc.subjectInductionen_US
dc.subjectBetaen_US
dc.subjectAbnormalitiesen_US
dc.subjectExposureen_US
dc.subjectGenesen_US
dc.subjectModelen_US
dc.titleA Genetics Study in the Foreskin of Boys with Hypospadiasen_US
dc.typeArticleen_US

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