Aphallia: experience with 3 cases Kamal N. Rattan, Pradeep Kajal, Manish Pathak, Yoginder S. Kadian, Ruchi Gupta ⁎ Post Graduate Institute of Medical Sciences Rohtak, Haryana, 124001, India Received 19 February 2009; revised 13 October 2009; accepted 20 October 2009 Key words: Aphallia; Development of phallus; Associated anomalies Abstract In view of the rarity of the lesion, we describe 3 cases of aphallia associated with genitourinary and nongenitourinary anomalies. One case was associated with an anorectal malformation, whereas 2 had a normal anal opening. One patient with a normal anal opening had an associated rectal-urethro- fistula. Development of the phallus, clinical presentation of aphallia, associated anomalies, and an outline of the management is discussed along with a review of the literature. © 2010 Elsevier Inc. All rights reserved. Aphallia is an extremely rare congenital anomaly occurring in 1 in 30 million births. It is believed to be a result of either the absence of the genital tubercle or its failure to fully develop. Fifty-four percent of cases of penile agenesis are associated with genitourinary anomalies [1]. The earliest reported case was in 1853 by Imminger, and at this time, less than 100 cases have been reported worldwide. Herein, we report our experience with 3 cases of aphallia along with a review of the literature. 1. Case reports 1.1. Case 1 A 1-day-old neonate presented with absence of the phallus and failure to pass meconium since birth. On examination, the baby was active, pink, and weighed 2.0 kg. There was absence of the phallus and no anal opening. The urethral opening was located on a skin appendage near the anal pit. Well-developed scrotum was present in the normal position, but the gonads were not palpable. Buccal smear was negative for Barr bodies. Ultrasound study of the abdomen showed a left solitary kidney and normal urinary bladder. Plain invertogram radiograph suggested a high type of anorectal malformation. After these investigations, the baby underwent a sigmoid colostomy. The infant was discharged with definitive reconstruction planned at a later date. Posterior sagittal anorectoplasty and urethral dilation were done at 10 months of age. The child is now 13 months old. He has normal renal parameters and a normally functioning left solitary kidney. We intend to do phallic reconstruction at a later time. 1.2. Case 2 A neonate was admitted with an absent phallus. On physical examination, he appeared severely ill and dehy- drated. Sepsis was suspected. The systemic examination was unremarkable. Perineal examination revealed a normally situated anus with a fleshy tag of skin and small pinpoint opening just in front and outside the anal verge that discharged urine in a very thin stream. The phallus was ⁎ Corresponding author. Tel.: +91 9813215705. E-mail address: ruchigupta.md@gmail.com (R. Gupta). www.elsevier.com/locate/jpedsurg 0022-3468/$ – see front matter © 2010 Elsevier Inc. All rights reserved. doi:10.1016/j.jpedsurg.2009.10.057 Journal of Pediatric Surgery (2010) 45, E13–E16