DIPHALLIA AND THE VATER ASSOCIATION

Abstract

Diphallia or duplication of the penis is an extremely rare congenital abnormality1 that is usually associated with anomalies of other parts of the genitourinary tract and distant organs. Abnormalities of the male external genitalia frequently occur with the VATER association, which is diagnosed by at least 3 features, including vertebral anomalies, anal atresia, tracheoesophageal fistula with esophageal atresia and radial or renal defects. To our knowledge no case of diphallia and the VATER association has previously been described. CASE REPORT A male neonate born at 39 weeks of gestation and weighing 2,086 gm. presented with numerous anomalies. The parents were healthy and unrelated. There was no history of exposure to teratogens and no family history of abnormalities. Anomalies included tracheoesophageal fistula with esophageal atresia, imperforate anus (anocutaneous fistula), bilateral radial limb defects, cleft palate, patent ductus arteriosus, a single umbilical artery, right megaureter, left multicystic dysplastic kidney, bifid scrotum, left cryptorchidism and diphallia. The diagnosis was the VATER association. Patient karyotype was normal. The anterior penis was smaller than the posterior penis (fig. 1, A). Glanular hypospadias was noted in the posterior penis (fig. 1, B). Urine was expelled through each urethra. Ultrasonography revealed a corpus cavernosum and a corpus spongiosum in each penis. Shortly after birth we ligated and divided the tracheoesophageal fistula, created a primary anastomosis for esophageal atresia and performed a cutback procedure on the anocutaneous fistula. At 2 days of life right percutaneous nephrostomy was done, followed by loop cutaneous ureterostomy. Urography through the nephrostomy tube revealed 1 bladder and 2 urethras (fig. 2). The bladder appeared to be bilobed. Ductus arteriosus closed 2 months after birth. Cleft palate was repaired by the pushback method and left orchiopexy was done at age 2 years. Although each penis remained in place, the anterior penis should be removed. DISCUSSION It has been postulated that the etiology of the VATER association is a common defect in the early differentiating mesoderm. Abnormalities of the external genitalia in male individuals may be associated with this condition. Diphallia is a rare congenital anomaly caused by failure of migration or fusion of the mesoderm during early embryonic development. Because this anomaly represents an extreme disturbance in embryonic development, diphallia is usually associated with anomalies of distant organ systems as well as those of the genitourinary tract. In our patient ultrasonography revealed a corpus cavernosum and a corpus spongiosum in each penis. These findings were consistent with the definition of complete bifid phallus.2 Embryologically the VATER association may be caused by the disruption of processes that occur before day 35 of fetal development. Complete diphallia and associated anomalies appear to arise posteriorly and caudally before week 4 of gestation. Although theoretically diphallia should be common in patients with the VATER association because similar embryological defects exist during the same time, to our knowledge a case with both disorders has not previously been described. Since the initial description of the VATER association by Weaver et al,3 our understanding of this entity has evolved. In conclusion, we propose that diphallia should be considered a urological feature of the VATER association. REFERENCES