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GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature
Çelik, Nurullah; Küçük Kurtulgan, Hande; Kiliçbay, Fatih; Tunç, Gaffari; Kömürlüoglu, Ayça; Tasçi, Onur; Çaglar Simsek, Cemile Ece; Çinar, Taha; Sidar Duman, Yesim.
Afiliación
  • Çelik N; Sivas Cumhuriyet University Faculty of Medicine, Department of Pediatric Endocrinology, Sivas, Turkey
  • Küçük Kurtulgan H; Sivas Cumhuriyet University Faculty of Medicine, Department of Genetics, Sivas, Turkey
  • Kiliçbay F; Sivas Cumhuriyet University Faculty of Medicine, Department of Neonatology, Sivas, Turkey
  • Tunç G; Sivas Cumhuriyet University Faculty of Medicine, Department of Neonatology, Sivas, Turkey
  • Kömürlüoglu A; Sivas Cumhuriyet University Faculty of Medicine, Department of Child Health and Diseases, Sivas, Turkey
  • Tasçi O; Sivas Numune Hospital, Clinic of Cardiology, Sivas, Turkey
  • Çaglar Simsek CE; Sivas Cumhuriyet University Faculty of Medicine, Department of Child Health and Diseases, Sivas, Turkey
  • Çinar T; Sivas Cumhuriyet University Faculty of Medicine, Department of Child Health and Diseases, Sivas, Turkey
  • Sidar Duman Y; Sivas Cumhuriyet University Faculty of Medicine, Department of Genetics, Sivas, Turkey
J Clin Res Pediatr Endocrinol ; 14(4): 469-474, 2022 12 01.
Article en En | MEDLINE | ID: mdl-34355877
The 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-4 variants and to review the phenotypic and genotypic characteristics of DSD cases related to GATA-4 deficiency.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factor de Transcripción GATA4 / Trastorno del Desarrollo Sexual 46,XY Límite: Female / Humans / Male Idioma: En Revista: J Clin Res Pediatr Endocrinol Año: 2022 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Turquía
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Factor de Transcripción GATA4 / Trastorno del Desarrollo Sexual 46,XY Límite: Female / Humans / Male Idioma: En Revista: J Clin Res Pediatr Endocrinol Año: 2022 Tipo del documento: Article País de afiliación: Turquía Pais de publicación: Turquía