J Clin Res Pediatr Endocrinol. Ahead of Print: JCRPE-30974 | DOI: 10.4274/jcrpe.galenos.2021.2021.0112
GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development; Review of The Literature
Nurullah Çelik1, Hande Küçük Kurtulgan
2, Fatih Kılıçbay
3, Gaffari Tunç
3, Ayça Kömürlüoğlu
4, Onur Taşcı
5, Cemile Ece Çağlar Şimşek
4, Taha Çınar
4, Yeşim Sıdar Duman
21Sivas Cumhuriyet University Faculty of Medicine, Department of Pediatric Endocrinology, Sivas, Turkey
2Sivas Cumhuriyet University Faculty of Medicine, Department of Genetics, Sivas, Turkey
3Sivas Cumhuriyet University Faculty of Medicine, Department of Neonatology, Sivas, Turkey
4Sivas Cumhuriyet University Faculty of Medicine, Department of Child Health and Diseases, Sivas, Turkey
5Sivas Numune Hospital Clinic of Cardiology, Sivas, Turkey
The genetic cause of 46, XY Disorder of Sex Development(DSD) still cannot be determined in about half of the cases. GATA-4 aploinsufficiency 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 reported in the literature. 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 study aimed 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.
Keywords: Disorder of sex development, GATA-4, Gonad, heart
Corresponding Author: Nurullah Çelik, Türkiye
Manuscript Language: English