Case Report

GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development; Review of The Literature

10.4274/jcrpe.galenos.2021.2021.0112

  • Nurullah Çelik
  • Hande Küçük Kurtulgan
  • Fatih Kılıçbay
  • Gaffari Tunç
  • Ayça Kömürlüoğlu
  • Onur Taşcı
  • Cemile Ece Çağlar Şimşek
  • Taha Çınar
  • Yeşim Sıdar Duman

Received Date: 05.05.2021 Accepted Date: 28.07.2021 J Clin Res Pediatr Endocrinol 0;0(0):0-0 [e-Pub] PMID: 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 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