LHCGR and disorder of sexual differentiation: However, heterozygous variants of LHCGR are typically considered nonpathogenic, they represent a genetic susceptibility factor for 46,XY DSD, Our former study has shown that LhcgrW495X knock-in point mutation (harboring a human-relevant point mutation) caused DSD in male mice, however, LhcgrW495X/+ mice manifested as normal sex development in adult stage [16].