1. GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature
- Author
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Taha Çınar, Cemile Ece Çağlar Şimşek, Hande Küçük Kurtulgan, Ayça Kömürlüoğlu, Onur Taşcı, Fatih Kılıçbay, Yeşim Sıdar Duman, Gaffari Tunç, and Nurullah Çelik
- Subjects
Genetics ,Gonad ,business.industry ,Endocrinology, Diabetes and Metabolism ,medicine.disease ,Phenotype ,Undervirilization ,Endocrinology ,medicine.anatomical_structure ,Pediatrics, Perinatology and Child Health ,Genotype ,Medicine ,Missense mutation ,Copy-number variation ,business ,Haploinsufficiency ,Sequence (medicine) - Abstract
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.
- Published
- 2022
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