A genetic panel for differences/disorders of sex development (DSD) did not identify any variants in genes previously implicated in SRY-negative XX testicular DSD, including NR5A1, SOX9, SOX3, WNT4, RSPO1, and WT1. The patient also had cystoscopy, vaginoscopy, and laparoscopy, which demonstrated a urogenital sinus and absence of the cervix and uterus (Fig. 2C). This evidence concerns the gene RSPO1 and disorder of sexual differentiation.