Female pseudohermaphroditism associated with cloacal anomalies: faulty differentiation in the caudal developmental field.

A 1(1/2)-year-old girl with a urogenital sinus defect associated with an enlarged phalluslike clitoris is described. The child had an anteriorly located anus, a single kidney with grade III vesicoureteric reflux, a 3.5-cm-long common urethrovaginal channel, a large vesical calculus, and a hamartoma in the pubic region. After a preliminary colostomy, definitive surgery consisted of urethral reconstruction, vaginal reconstruction using a colonic graft, and posterior relocation of the anus. The discussion centers on a review of the previously reported cases of female pseudohermaphroditism associated with cloacal or urogenital sinus defects (FPHCD). The likely embryogenesis of this condition is discussed, and the similarity of the features with those seen in some patients with complete penoscrotal transposition (CPST) is highlighted. Copyright 2001 by W.B. Saunders Company.