Patient's question:
Today I saw a report that said there is a disease called 5α-reductase 2 deficiency syndrome, and the harm it poses to patients is also quite significant. I came here to learn more about it.Doctor's answer:
Hello, the typical manifestations of homozygous patients include a 46,XY male infant with clitoris-like small penis that curves downward, perineal hypospadias, blind pouch vagina, and separated vaginal and urethral orifices. Testicular differentiation is normal, located in the inguinal canal or labio-scrotal folds. There are epididymis and vas deferens, but no uterus or fallopian tubes. Ejaculatory ducts open into the blind pouch of the vagina, and the prostate is underdeveloped.