Should infants with aphallia be raised as females

Aphallia is an extremely rare congenital malformation of unknown cause. The incidence is reported in the literature to be 1 in 10-30 million live births. Almost 100 cases have been described to date. Aphallia is associated with other congenital malformations (in particular urogenital and gastrointestinal anomalies) in >50% of cases. The diagnosis is made clinically and shows the complete absence of the corpora cavernosa and the corpus spongiosum with a urethral opening along the perineal midline (most frequently ventral to the anus and in the ventral rectal wall). Two case reports from the authors' department: The first child was a male newborn (46,XY) with penis agenesis and additional bilateral intraabdominal testis, an anorectal malformation (ARM) with a rectovesical fistula, as well as left renal duplication and grade III vesico-ureteral reflux on the right side. The second child was a male newborn (46,XY) with aphallia without further urological or anorectal malformation. Only right inguinal hernia was present. In the first patient, several corrective surgeries were performed in the further course in view of the additional malformations. With regard to the aphallia, the various temporary treatment options (scrotal or parascrotal phalloplasty or penis prosthesis) were discussed with the parents. Masculinizing surgery by means of definitive phalloplasty was planned once the patient has reached puberty. Due to the technical demands of phallus reconstruction, feminization is still favored in some countries in the literature, which nowadays, however, cannot be justified medically or legally.

[Aphallia - report of two cases].

Penile agenesis is one of the rarest urogenital anomalies with only less than 100 cases reported worldwide so far. Only 3 cases have been reported from Africa and to our knowledge none has been reported from our country Ethiopia. Viability depends on associated anomalies. Urogenital anomalies are the most common associated ones accounting for 54% of cases. This case report is unusual presentation, which is the first reported case of penile agenesis associated with left to right, crossed fused renal ectopia.

Penile agenesis with crossed fused renal ectopia.

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Penile agenesis with crossed fused renal ectopia.