Pathogenic NR5A1 variants are among the most common genetic findings in 46,XY differences of sex development (DSD), yet the broad phenotypic spectrum remains incompletely defined.<h4>Objective</h4>This study aims to establish pooled estimates of key clinical outcomes and to clarify whether variant type predicts phenotype, pubertal course, or gender transition in NR5A1-related 46,XY DSD.<h4>Methodology</h4>MEDLINE, Embase, and HGMD were systematically searched. The gene discussed is NR5A1; the disease is disorder of sexual differentiation.