In this study, we report the results of a targeted NGS analysis of a relatively large cohort of individuals with 46,XY DSD who had the working diagnosis of complete gonadal dysgenesis (CGD) (n = 27) or what we term “partially virilized 46,XY DSD” (pvDSD) (n = 25), a group that included partial gonadal dysgenesis (PGD) and those with a broad partial androgen insensitivity syndrome (PAIS) label (androgen receptor negative). The gene discussed is AR; the disease is disorder of sexual differentiation.