GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature

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dc.contributor.authorÇelik, Nurullah
dc.contributor.authorKurtulgan, Hande Küçük
dc.contributor.authorKılıçbay, Fatih
dc.contributor.authorTunç, Gaffari
dc.contributor.authorKömürlüoğlu, Ayça
dc.contributor.authorTaşçı, Onur
dc.contributor.authorŞimşek, Cemile Ece Çağlar
dc.date.accessioned2024-10-26T17:51:26Z
dc.date.available2024-10-26T17:51:26Z
dc.date.issued2022
dc.departmentSivas Cumhuriyet Üniversitesi
dc.description.abstractThe genetic cause of 46, XY disorder of sex development (DSD) still cannot be determined in about half of the cases. GATA-4 haploinsufficiency is one of the rare causes of DSD in genetic males (46, XY). Twenty-two cases with 46, XY DSD due to GATA-4 haploinsufficiency (nine missense variant, two copy number variation) have been previously reported. In these cases, the phenotype may range from a mild undervirilization to complete female external genitalia. The haploinsufficiency may be caused by a sequence variant or copy number variation (8p23 deletion). The aim of this study was to present two unrelated patients with DSD due to GATA-4variants and to review the phenotypic and genotypic characteristics of DSD cases related to GATA-4 deficiency. © 2022 by Turkish Society for Pediatric Endocrinology and Diabetes.
dc.identifier.doi10.4274/jcrpe.galenos.2021.2021.0112
dc.identifier.endpage474
dc.identifier.issn1308-5727
dc.identifier.issue4
dc.identifier.pmid34355877
dc.identifier.scopus2-s2.0-85143180950
dc.identifier.scopusqualityQ2
dc.identifier.startpage469
dc.identifier.trdizinid1173387
dc.identifier.urihttps://doi.org/10.4274/jcrpe.galenos.2021.2021.0112
dc.identifier.urihttps://search.trdizin.gov.tr/tr/yayin/detay/1173387
dc.identifier.urihttps://hdl.handle.net/20.500.12418/26219
dc.identifier.volume14
dc.indekslendigikaynakScopus
dc.indekslendigikaynakTR-Dizin
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherGalenos Publishing House
dc.relation.ispartofJCRPE Journal of Clinical Research in Pediatric Endocrinology
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectDisorder of sex development; GATA-4; Gonad; heart
dc.titleGATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature
dc.typeArticle

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