First Case of a Term Male Born with Aphallia and Complete Urethral Atresia

Abstract

Aphallia is an exceedingly rare condition often associated with an array of genitourinary anomalies. Classically, aphallia was thought to have to co-exist with a urethral fistula for adequate urine outflow to avoid the sequelae of oligohydramnios, while the absence of a fistula has historically been incompatible with life. We report the first case of a prenatally unrecognized aphallia with complete urethral atresia in a full-term baby, without an associated fistula or ectopic urethra. We postulate a urachal cyst noted on prenatal ultrasound resolved into a patent urachus providing sufficient outflow to avoid sequelae of oligohydramnios and allowed for term birth.