Genital malformations and coexistent urinary tract or spinal anomalies in patients with imperforate anus

Urinary tract malformations have been described in up to 50% of patients with imperforate anus but genital anomalies have been less well analyzed in the same patient population. We sought to evaluate the frequency of coexisting genital, urinary and spinal malformations in a population with imperforate anus.

We reviewed 128 cases of imperforate anus, focusing on genital malformations and their relationship to anomalies of the urinary tract and spine. The series included 69 boys and 59 girls with low (59), intermediate (22) and high (47) imperforate anus.

Boys were much more likely to have a genital or upper urinary tract problem than girls (26 or 50 versus 5 or 30%, respectively). The risk for both sets of problems increased with the level of the anorectal lesion. The incidence of genital malformations increased from 14 to 26% in the presence of a renal lesion and from 10 to 23% with an associated spinal problem. Conversely, the incidence of urinary and spinal anomalies increased in patients with genital malformations.

The genitalia of children with imperforate anus should be carefully examined. Patients with anorectal malformations should also be evaluated for urinary tract and spinal problems. The yield of such studies increases in patients with recognized genital malformations.