However, we detected three heterozygous variants in autosomal DSD genes not previously associated with 46,XY gonadal dysgenesis: Chromodomain Helicase DNA Binding Protein 7 (CHD7) NM_017780.4:c.2273G>A (p.Arg758His) (rs202208393), KISS1 Receptor (KISS1R) NM_032551.5:c.1167C>A (p.Cys389Ter) (rs371771794), and Leucine Rich Repeat Containing G Protein-Coupled Receptor 5 (LGR5) NM_003667.4:c.2341C>G (p.Pro781Ala) (rs113809442). Here, KISS1R is linked to disorder of sexual differentiation.