A full-term newborn presented with ambiguous genitalia. Early prenatal sonography had demonstrated normal amniotic fluid volume. Physical examination revealed an absent phallus, a normal scrotum with bilaterally descended testes and a small skin tag just anterior to the rectum (fig. 1). Urine and meconium were intermittently passed separately from the otherwise normal rectum. Ultrasound demonstrated no bladder distension, a left cystic dysplastic kidney and severe right hydroureteronephrosis. Initial management included placement of a right nephrostomy tube. Despite a 46XY karyotype the neonate was assigned the female gender due to absence of the phallus. Surgical management at 4 days of life included endoscopy of the single perineal opening, bilateral orchiectomy and laparotomy. Exploration was remarkable for absence of the bladder with 2 ureters joining in the midline and inserting as a fibrous cord into the anterior wall of the rectum (fig. 2). Each vas deferens entered the ipsilateral ureter before this confluence. The right kidney was hydronephmtic and the left kidney was dysplastic. Additional findings included a duplicated aorta and bilateral retro-iliac ureters. The internal iliac arteries on both sides were intra-abdominal and joined as a common vessel ventral to the sigmoid colon. Left nephroureterectomy and right cutaneous ureterostomy were performed. Pathological evaluation confirmed a dysplastic left kidney and each vas entering the ipsilateral ureter. The perirectal skin tag consisted of poorly organized erectile tissue. A paucity of spermatogonia and Leydig cells was noted within each gonad.
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