ISSN: 1308-5727 | E-ISSN: 1308-5735
Volume: 14 Issue: 4 Year: 2022
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Abstracting & Indexing
Turkish Society for Pediatric Endocrinology and Diabetes
<i>GATA-4</i> Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature [J Clin Res Pediatr Endocrinol]
J Clin Res Pediatr Endocrinol. 2022; 14(4): 469-474 | DOI: 10.4274/jcrpe.galenos.2021.2021.0112

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

Nurullah Çelik1, Hande Küçük Kurtulgan2, Fatih Kılıçbay3, Gaffari Tunç3, Ayça Kömürlüoğlu4, Onur Taşçı5, Cemile Ece Çağlar Şimşek4, Taha Çınar4, Yeşim Sıdar Duman2
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 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.

Keywords: Disorder of sex development, GATA-4, Gonad, heart

Nurullah Çelik, Hande Küçük Kurtulgan, Fatih Kılıçbay, Gaffari Tunç, Ayça Kömürlüoğlu, Onur Taşçı, Cemile Ece Çağlar Şimşek, Taha Çınar, Yeşim Sıdar Duman. GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature. J Clin Res Pediatr Endocrinol. 2022; 14(4): 469-474

Corresponding Author: Nurullah Çelik, Türkiye
Manuscript Language: English
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