A case of diphallia and anal atresia. J. Samanich1, C. Long2, S. Nemerofsky2 1) Center for Congenital Disorders, Children's Hospital at Montefiore, Bronx, NY; 2) Section of Neonatology, Children's Hospital at Montefiore, Bronx, NY.
Diphallia, or duplication of the phallus, is an extremely rare disorder, classified into categories of true diphallia (two corpora cavernosa) and bifid phallus (single corpora cavernosa). Several other anomalies have been reported in conjunction with diphallia, including imperforate anus, cryptorchidism, perineal mass, renal anomalies, rectal anomalies, duplicated bowel and duplicated bladder. Case Report: ML was a full term infant delivered after an uneventful pregnancy to a 22-year-old G3P2002 African-American mother and 37-year-old Jamaican father. There was no known family history of birth defects. At delivery, anomalous genitalia and an imperforate anus were noted. Physical examination revealed length 50.5 cm (50%), weight 3550 g (50%) and HC 32.5 cm (5-10%). He had a split metopic suture, a slightly depressed nasal bridge and a left preauricular tag, but generally non-dysmorphic facies. There was a duplicated phallus with two scrotums. The ventral scrotum contained 2 testes and the dorsal scrotum was empty. There was a well-defined gluteal crease, imperforate anus and a 2-vessel cord. Cystourethrogram revealed that the ventral urethra drained to the bladder and the dorsal urethra was atretic. Also noted was a duplicated rectum with the more anterior rectum connected to the bladder by a rectovesical fistula. The bladder was normal. Ultrasound showed normal kidneys, adrenals, spleen and sacrum. A large left hepatic lobe was noted, but otherwise normal liver. MRI of the brain was unremarkable. Echocardiogram revealed significant right ventricular hypertrophy of unclear etiology, with no structural defects. During surgery, he was found to have a high anorectal malformation and sigmoid colostomy was performed. Chromosomal analysis showed 46, XY. MRI of the pelvis to determine if he has true diphallia or a bifid phallus is scheduled. This is a unique case of a duplicated phallus, duplicated rectum, and an imperforate anus without clear genetic or environmental etiology.