Microdeletion at ESR1 Intron 6 (DEL_6_75504) Is a Susceptibility Factor for Cryptorchidism and Hypospadias.
Yohei MasunagaYasuko FujisawaFrancesco MassartClaudio SpinelliYoshiyuki KojimaKentaro MizunoYutaro HayashiIsoji SasagawaRie YoshidaFumiko KatoMaki FukamiNaoyuki KamataniHirotomo SaitsuTsutomu OgataPublished in: The Journal of clinical endocrinology and metabolism (2023)
The results reveal that ΔESR1, which has been registered as "DEL_6_75504" in "gnomAD SVs v2.1", is the true susceptibility factor for cryptorchidism and hypospadias. It appears that ΔESR1 was produced in a single ancestral founder of modern humans and has been maintained within the genome of multiple ethnic groups by selection.