Domenice et al. found the most common clinical presentation to be “atypical or female external genitalia with clitoromegaly, palpable gonads, and absence of Müllerian derivatives [13].” Currently, there are over 200 known pathogenic variants in the NR5A1 gene reported in association with individuals with DSD [13, 30–36]. The gene discussed is NR5A1; the disease is disorder of sexual differentiation.