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Rare or novel pathogenic variants were identified into the AR, SRD5A2, ZNRF3, SOX8, SOX9 and HHAT genes. Overall our data suggest a genetic diagnosis rate of 41.2% (68/165) when you look at the set of 46,XY DSD.Rare or novel pathogenic variants were identified within the AR, SRD5A2, ZNRF3, SOX8, SOX9 and HHAT genetics. Overall our information indicate an inherited analysis price of 41.2per cent (68/165) when you look at the number of 46,XY DSD. As a result of the temporal and spatial heterogeneity of real human