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.