Similarly, Pan et al. [52] reported the clinical characteristics and characteristics of the genetic mutation in an individual with 46,XY DSD caused by a new heterozygous mutation in the NR5A1 gene: c.630delG (p.Y211Tfs*85), presenting the case of a Chinese boy with ambiguous genitalia at birth and normal adrenal glands. This evidence concerns the gene NR5A1 and disorder of sexual differentiation.