A Rare case of Aphallia

Aphallia (total absence of penis) is an extremely rare abnormality that can be part of the urorectal septum malformation sequence. We are reporting a 40-day-old boy who was referred to our nephrology clinic due to the absence of the penis and urinating through the rectum. He was born to a 17-year-old mother and a 24-year-old father, and was delivered term via normal vaginal delivery. The pregnancy was uncomplicated with no maternal toxin or medication exposure. Both parents were healthy and there was no family history of congenital abnormality. The parents were also unrelated. Physical examination revealed agenesis of the penis, a normal scrotum, and bilateral normally positioned testises. Moreover, the heart, lungs, abdomen, head and neck, and spinal column were all normal on examination. The karyotype was 46XY and the gender was male. Initial ultrasonography one week after birth revealed moderate bilateral hydronephrosis but the last ultrasonography 45 days later revealed only mild fullness of both kidneys.