Congenital aphallia: From embryology to management - a focused minireview

Aphallia, or penile agenesis, is an extremely rare congenital anomaly with fewer than 100 cases reported worldwide. It results from failed development of the genital tubercle during early embryogenesis, leading to complete absence of penile structures and abnormal urethral opening. This defect is often part of a broader caudal developmental disturbance and is frequently associated with genitourinary anomalies such as urethrorectal fistula, renal agenesis, renal dysplasia, hydronephrosis, and cryptorchidism, all of which significantly influence prognosis. Diagnosis requires careful differentiation from conditions that mimic genital absence, including concealed penis, micropenis, disorders of sex development, and intrauterine penile injury. Several classification systems exist based on urethral location, severity of associated anomalies, and presence of a functional urinary meatus. Management has historically been controversial. Earlier recommendations favored feminizing genitoplasty in infancy; however, growing recognition of prenatal androgen imprinting and the risk of later gender dysphoria has shifted current practice toward male gender assignment and staged neophalloplasty. Reconstructive strategies include temporary non-microsurgical flaps in childhood and definitive microsurgical phalloplasty in adolescence or adulthood. Urethral reconstruction remains a major surgical challenge. Optimal care requires a multidisciplinary team. This review summarizes embryology, clinical spectrum, diagnosis, and evolving management of aphallia.