TY  - JOUR
TI  - GATA-4 Variants in Two Unrelated Cases with 46, XY Disorder of Sex Development and Review of the Literature
AB  - 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.
AU  - Tunç, Gaffari
AU  - çınar, taha
AU  - Caglar Simsek, Cemile Ece
AU  - ÇELİK, Nurullah
AU  - Küçük KURTULGAN, Hande
AU  - Kılıçbay, Fatih
AU  - KOMÜRLÜOGLU, AYÇA
AU  - Tasci, Onur
AU  - SIDAR DUMAN, YEŞİM
DO  - 10.4274/jcrpe.galenos.2021.2021.0112
PY  - 2022
JO  - Journal of Clinical Research in Pediatric Endocrinology
VL  - 14
IS  - 4
SN  - 1308-5727
SP  - 469
EP  - 474
DB  - TRDizin
UR  - http://search/yayin/detay/1173387
ER  -