Iran J Pediatr Case Report Jun 2009; Vol 19 (No 2), Pp:173-179 Penile Agenesis: Report on 8 Cases and Review of Literature Alireza Mirshemirani*1, MD; Ahmad Khaleghnejad1, MD; Hoshang Pourang2, MD; Naser Sadeghian1, MD; Mohsen Rouzrokh1, MD; Shadab Salehpour3, MD 1. Pediatric Surgery Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran 2. Department of Pediatric Surgery, Tehran University of Medical Sciences, Tehran, IR Iran 3. Department of Pediatrics, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran Received: Jun 27, 2008; Final Revision: Dec 01, 2008; Accepted: Jan 14, 2009 Abstract Background: Penile agenesis (PA) is an extremely rare anomaly with profound urological and psychological consequences. The opening of the urethra could be either over the pubis or at any point on perineum or most frequently in anterior wall of the rectum. The aim of treatment is an early female gender assignment and feminizing reconstruction of the perineum. Case(s) Presentation: We report 8 cases of penile agenesis with urination and defecation through the rectum, apparently normal scrotum, bilateral descended testis, normally located anus, urethral opening in anus, 46XY karyotype and associated anomalies. In 2 cases parents refused any surgical interventions, but in 6 cases we did perform different operations (transforming five cases to females and one case to male gender). Conclusion: We recommend feminizing operations in newborns or infants, but in older patients, regarding the child's psychology, it is advised to perform masculinizing operations, and finally, no surgical intervention should be undertaken before counseling the parents. Iranian Journal of Pediatrics, Volume 19 (Number 2), June 2009, Pages: 173­179 Key Words: Aphallia; Penile agenesis; Reconstruction; Ambiguous genitalia Introduction anomaly [1,2]. Penile agenesis (PA) is believed Agenesis of the penis which has a reported to result from either the absence of the genital incidence occurring once in 30 million live tubercle or its failure to develop[3]. Several births, is an extremely rare genitourinary investigations claim the absence of corpora * Corresponding Author; Address: Mofid Childre'n Hospital, Dr Sharati St, Tehran, IR Iran E-mail: [email protected] © 2009 by Center of Excellence for Pediatrics, Children’s Medical Center, Tehran University of Medical Sciences, All rights reserved. 174 Penile Agenesis: Report on 8 Cases; A Mirshemirani, et al cavernosa and corpus spongiosum as a defecation through rectum. Physical prerequisite for the diagnosis of PA[4]. examination revealed absence of penis, Patients usually have 46XY karyotype [5]. apparently normal scrotum, and bilateral well There are two major groups of patients with descended testes. Anus was located on its real PA, those with congenital anomalies place and urethra opened through the anus incompatible with life and those with PA as (Fig 1). The nose was beaked and he had low‐ solitary malformation[6,7]. set ears and high‐arched palate. Karyotype More than half of these patients have 46XY and HCG trial test showed normal associated anomalies including develop‐ testosterone production ability of the testes. mental defects of the caudal axis, Cystourethrography was performed under genitourinary (54%) and gastrointestinal tract low general anesthesia which showed an anomalies[8]. PA as solitary malformation anterior located urethrorectal fistula. There consists of absent penis and usually normal was a congenital agenesis of prostate as appearingg scrotum which contains palpable associated anomaly. Unfortunately parents testicles with normal function[3,7,9,10]. refused any surgical intervention. Skoog and Bellman[8] classified patients based on the relationship of the urethral Case 2: A 15‐day‐old neonate was referred meatus to the anal sphincter. The three to us due to absence of penis and urination variations they described are postsphinctric and defecation through rectum. He had with anterior perianal urethra, presphincteric normal scrotum, bilateral normal testis with urethrorectal fistula, and urethral atresia position, normally located anus and urethral with vesicorectal fistula. opening through anus (Fig 2). Ultrasono‐ The opening of the urethra could be either graphy showed no associated anomalies. over the pubis or at any point on the perineum Buccal smear was consistent with male or, most frequently, in anterior wall of the genotype, and chromosomal studies revealed rectum[8,11]. The original description a normal karyotype 46XY; laboratory tests originates from Imminger in 1853. Since then were unremarkable. Cystourethrogram approximately 80 cases have been reported performed through rectosigmoidoscopy worldwide [6,7]. showed normal appearing bladder, and an Treatment for these patients is urethrorectal fistula opening proximally into controversial. Surgical intervention during the rectum. infancy, including urethral transposition and bowel vaginoplasty via a posterior sagittal approach plus orchiectomy and scrotoplasty, has been advocated. However, gender reassignment in other contexts and detailed psychosexual data may not support this recommendation [8]. In addition, since phallic reconstruction is feasible, if imperfect, in prepubertal boys maintenance of male gender should be considered an option in discussions with the patient’s family [9]. Case(s) Presentation Case 1: A 4‐day‐old neonate, 2.1 KG birth Fig 1: Neonate with penile agenesis and weight, with aphallia and urination and anterior located urethrorectal fistula Iran J Pediatr, Vol 19 (No 2); Jun 2009 175 Fig 2: A 15‐day‐old neonate with penile Fig 3: Cystography shows urethro‐anal agenesis fistula and vesicourethral reflux Treatment: Surgical intervention included absent in the right side; 46XY karyotype and urethral transposition, bilateral orchiectomy urethra opening in anterior anus site. and labioplasty. A later labio‐vaginoplasty was Treatment: Cystoscopy via urethral fistula, planned. urethral transposition to the lower scrotal area. As patient and his parents would Case 3: A 2 days old neonate, with 2900 kg prefer male gender, so he was discharged birth weight, abdominal distesion, vomiting and advised to come later for masculinizing and no urination and defication. Patient had opertions (urethroplasty and penile aphallia, normal scrotum and bilateral normal reconstruction). testis postion, and urethra at anterior anus position, buccal smear was consistent with Case 6: 2‐day‐old neonate was admitted for male genotype, and chromosomal studies imperforate anus, aphallia, normal scrotum, revealed a normal karyotype of 46XY. normal bilateral testes, 46XY karyotype, Ultrasonography and renal scan revealed urethral opening at the site of mid‐scrotal hydronephrotic kidney with nearly normal area, and cleft lip and palate. function, and cystogram showed urethro‐anal Treatment: Sigmoid colostomy, bilateral fistula and vesicourethral reflux (Fig 3). orchiectomy, labioplasty and repair of cleft lip Treatment: Urgent cystostomy due to and planning for later vaginoplasty and repair elevated BUN at 4th day of life, bilateral of cleft palate. orchiectomy and labioplasty at 20 days. Because of UTI patient was discharged under Case 7: 7‐year‐old patient with aphallia, coverage of antibiotherapy to be followed up. normal scrotum, normal bilateral testes, 46XY karyotype, urethra opening at the anterior Case 4: A 25­day‐old neonate with aphallia, anal site, and no associated anolmalies. normal scrotum and bilateral testis, urination Treatment: Urethral transposition to the from anterior site of the anus, karyotyp 46XY, scrotal area, bilateral orchiectomy, labioplasty without any associated anomalies. His parents and planning for later vaginoplasty. refused any surgical intervention. Case 8: 2‐day‐old neonate with aphallia, anal Case 5: 12‐year‐old patient with aphallia, stenosis, normal scrotum, normal bilateral normal scrotum, testis normal in the left and testis, 46XY karyotype, urine passage from 176 Penile Agenesis: Report on 8 Cases; A Mirshemirani, et al Fig 4: 2‐day‐old neonate with aphallia after labioplasty (left) and 3.5 years later (right) Table 1: Characteristics and surgical approach in 8 patients with aphallia Case Karyo­ Associated Future Age Surgical approach no type anomalies planning ‐Beaked nose 1 ‐ Low set ears ‐ Cystoscopy 4 days 46 XY ‐‐‐‐‐‐‐‐‐ ‐ High arched plate ‐ Cysto‐urethro graphy ‐ Prostate agensis ‐ Cystoscopy ‐ Cystourethrography 15 2 46 XY ‐‐‐‐‐‐‐‐‐ ‐ Urethral transposition Vaginoplasty days ‐ Bilateral orchiectomy ‐ Labioplasty ‐ Hydronephrosis ‐ Cystoscopy 3 2 days 46 XY ‐ Vesico urethral ‐ Bilateral orchiectomy Vaginoplasty reflux ‐ Labioplasty 25 ‐ Cystoscopy 4 46 XY ‐‐‐‐‐‐‐‐‐ ‐‐‐‐‐‐‐‐‐ days ‐ cysto‐urethrography 12 ‐ Cystoscopy Urethroplasty 5 46 XY Mono orchid years ‐ Urethral transposition Phalloplasty ‐ Cystoscopy Imperforate anus ‐ Colostomy Vaginoplasty 6 2 days 46 XY Cleft lip ‐ Cleft lip repair Cleft palate Cleft palate ‐ Bilateral orchiectomy repair ‐ labioplasty ‐ Cystoscopy 7 ‐ Urethral transposition 7 46 XY ‐‐‐‐‐‐‐‐‐ Vaginoplasty years ‐ Bilateral orchiectomy ‐ Labioplasty ‐ Cystostomy ‐ Anoplasty ‐ Bilateral orchiectomy Anal stenosis Sigmoid 8 2 days 46 XY ‐ Labioplasty Vesico urethral reflux vaginoplasty ‐ Anti‐reflux surgery ‐ Urethral transposition ‐ Genitoplasty Iran J Pediatr, Vol 19 (No 2); Jun 2009 177 anus. Urethra cystography showed grade II normal scrotal formation, normal median vesico‐urethral reflux. raphe development and perforate anus.