MR diagnosis of penile agenesis: is it just absence of a phallus?

Penile agenesis is an extremely rare anomaly that results from absence of the genital tubercle or its failure to develop into a penis during embryonic life. Associated anomalies of the genitourinary and distal gastrointestinal tracts are frequently present. Imaging modalities, particularly MRI and cystography, play a crucial role in establishing the diagnosis and guiding further management. We report a child with penile agenesis with a urethroanal fistula and a blind-ending anterior urethra who had been reared as a male until presentation.