Pathogenic variants in NR5A1 have been increasingly recognized as significant contributors to a spectrum of disorders, including disorders of sex development (DSD), hypospadias, and gonadal dysfunction.[3,4] These conditions often manifest with phenotypic heterogeneity, ranging from mild genital anomalies to severe gonadal dysgenesis, underscoring the complex interplay between genetic factors and clinical outcomes.[4,5]. The gene discussed is NR5A1; the disease is disorder of sexual differentiation.