The heterogeneity of clinical features, including co-occurring DSD and spermatogenic failure, highlights the variable expressivity and pleiotropy of NR5A1 variants, mirroring patterns reported in prior studies.19, 20, 26, 33 While parallels with the Testicular Dysgenesis Syndrome model can be drawn, it remains premature to establish a direct causal link.33 Here, NR5A1 is linked to disorder of sexual differentiation.