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 Kurtulgan², Fatih Kýlýçbay³, Gaffari Tunç³, Ayça Kömürlüoðlu⁴, Onur Taþcý⁵, Cemile Ece Çaðlar Þimþek⁴, Taha Çýnar⁴, Yeþim Sýdar Duman^2
1Sivas 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

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