| Autor: |
Çelik, Nurullah, Kurtulgan, Hande Küçük, Kılıçbay, Fatih, Tunç, Gaffari, Kömürlüoğlu, Ayça, Taşçı, Onur, Çağlar Şimşek, Cemile Ece, Çınar, Taha, Duman, Yeşim Sıdar |
| Předmět: |
|
| Zdroj: |
Journal of Clinical Research in Pediatric Endocrinology; Dec2022, Vol. 14 Issue 4, p469-474, 6p |
| Abstrakt: |
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- 4variants and to review the phenotypic and genotypic characteristics of DSD cases related to GATA-4 deficiency. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
