Çelik, NurullahKurtulgan, Hande KüçükKılıçbay, FatihTunç, GaffariKömürlüoğlu, AyçaTaşçı, OnurŞimşek, Cemile Ece Çağlar2024-10-262024-10-2620221308-5727https://doi.org/10.4274/jcrpe.galenos.2021.2021.0112https://search.trdizin.gov.tr/tr/yayin/detay/1173387https://hdl.handle.net/20.500.12418/26219The 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.en10.4274/jcrpe.galenos.2021.2021.0112info:eu-repo/semantics/openAccessDisorder of sex development; GATA-4; Gonad; heartArticle144474469343558772-s2.0-85143180950Q21173387