Since then, the phenotypic spectrum has expanded to include 46,XY and 46,XX disorders of sex development (DSD), isolated male infertility, primary ovarian insufficiency (POI), and even asymptomatic carriers.15, 16 According to the Human Gene Mutation Database (HGMD), over 218 pathogenic or likely pathogenic NR5A1 variants have been identified.17 The gene discussed is NR5A1; the disease is disorder of sexual differentiation.