Impaired activity of P450 oxidoreductase gene-dependent microsomal enzymes can lead to DSD, pubertal failure, adrenal dysfunction, and maternal virilization during pregnancy(15). Large fragment deletion CYP17A1 may be other molecular mechanisms to cause 46, XX DSD. STAR involved in male sex development plays a critical role in testosterone biosynthesis. STAR gene mutations lead to blockage of the synthesis of testosterone and other steroids. It was reported that dual gene defects (p. A596T in AR and p. G196S in SRD5A2) in a patient with hypospadias(16). Interestingly, in contrast to patients carrying novel gene variants in STAR, SRD5A2 and AR, the patient has typical genitalia. During puberty, the patient may present gynecomastia, and/or adrenal failure in late adolescence or adulthood.