Two individuals with a ZFPM2 variant also had additional variants in diagnostic DSD such as AR and NR5A1 which also correlate with the described 46,XY phenotype (case 15: AR:NM_000044.4:exon5:c.2191G > A (p.V731M) and case 16: NR5A1:NM_004959.4:c.251G > A (p.R84H) (Köhler et al., 2008; Robevska et al., 2017). The gene discussed is ZFPM2; the disease is disorder of sexual differentiation.