Article
GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature
Journal of clinical research in pediatric endocrinology - 1 Dec 2022
Çelik Nurullah, Küçük Kurtulgan Hande, Kılıçbay Fatih, Tunç Gaffari, Kömürlüoğlu Ayça, Taşçı Onur, Çağlar Şimşek Cemile Ece, Çınar Taha, Sıdar Duman Yeşim
Abstract excerpt
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...
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