Meta-regressions revealed no association between variant class and genital phenotype (odds ratio (OR): 1.25) or between phenotype and gender transition (OR: 0.46).<h4>Conclusion</h4>NR5A1-related 46,XY DSD is a dynamic condition with high rates of spontaneous virilisation (82%) and minimal adrenal involvement (1.6%). Here, NR5A1 is linked to disorder of sexual differentiation.