WOFAPS 2025 8th World Congress of Pediatric Surgery

Yasmine Ghazaly, Mohamed Mansy, Saber Waheeb, mohamed Abdelmalak

1 Nile of Hope Hospital for Congenital Anomalies, Alexandria, Egypt

Introduction:

Aphallia is extremely rare congenital malformation with psychological and gender assignment problems, of all English literature in the past 10 years only twenty-three articles were identified of which six were excluded and less than 100 cases reported worldwide . Its prevalence of occurrence estimated to be 1 in 10 to 30 million births. Most children with this disorder of sex development have 46,XY karyotype; however, it may also be seen in patients with congenital adrenal hyperplasia and 46,XX karyotype. Skoog and Bellman have an anatomical classification, based on the position of the ectopic urethra in relation to the anus and the number of associated anomalies. Using this classification, aphallia may be subclassified as pre-sphincteric, post-sphincteric or urethral atresia, with this last being the least common (12% of cases) and uniformly fatal. Evans’ prognostic classification, solely based on the presence or absence of major associated anomalies, may be used as well.The treatment of those patients remains debatable, that’s why gender reassignment during infancy has been regarded the most suitable option.The staged management including short, intermediate and long-term management.The short-term management includes resuscitation and urinary diversion as necessary, intermediate-term management entails urethrorectal fistula division, urethrostomy and neophallus creation and long-term management results in successful neophalloplasty, urethroplasty, prosthetic implant and continued protection of the upper urinary tracts with a Mitrofanoff. Urethral transposition, bowel vaginoplasty through a posterior sagittal approach as well as scrotoplasty and orchiectomy could be the other choice. All this within a multidisciplinary team ensuring shared decision-making with the patient and their family.

We present a case of a 2-month-old male who was referred due to penile agenesis and a well-developed scrotum

Case presentation:

A 2-month-old Egyptian male infant was referred to the pediatric surgery department at a Nile of Hope children’s hospital in Alexandria, Egypt, due to complete absence of Phallus with a well-developed scrotum and passing both urine and stool from the anus. The infant was born at 38 weeks of gestation via uncomplicated normal vaginal delivery and his maternal history included no positive consanguinity and a young maternal age (his mother was sixteen years old).She gave birth to three children including a one healthy male child , a two month old male with sudden infant death, our case and one abortion.

On physical examination, an absent phallus was noted along with normally descended right testis and palpable undescended left testis found in the left inguinal region. Per-Rectal examination revealed small fistula draining urine in the anterior wall of the anal canal about 2 cm from anal verge. Laboratory investigations was revealed normal renal functions, testosterone, Luteinizing hormone (LH) and estradiol. The infant Karyotyping was 46 XY. Regarding radiological investigation, an abdominal sonography revealed minimal ectasia of the left renal pelvis, left testis measuring 0.66 cc located in the left inguinal region. An MRI finding perineal portion of the urethra entering the anterior part of the anal canal, Left sided corpora cavernosa measuring 1.1 cm in length, the right sided one is relatively longer measuring 2.5 cm in length and ending at the base of the scrotum between the posterior wall of the scrotum and the perineum. Additionally, the left testis located just outside the superficial inguinal ring and normal spinal cord with no sacral anomalies.

the pathogenesis, approach and proposed management of are discussed. The aim of this study is to present such a rare congenital malformation and discussing the staged management including short, intermediate and long-term management. We conclude that optimal short-term management centers on resuscitation and urinary diversion as necessary, intermediate-term management entails urethrorectal fistula division, urethrostomy and neophallus creation and long-term management results in successful neophalloplasty, urethroplasty, prosthetic implant and continued protection of the upper urinary tracts with a Mitrofanoff. All this within a multidisciplinary team ensuring shared decision-making with the patient and their family.

Method and results:

The infant was prepared the greatest reconstruction challenge was urethroplasty. We performed urethral exteriorization via perineal urethroplasty for the urinary division of the urethrorectal fistula.A new external orifice of the urethra, located on the lower scrotum, the urethrorectal fistula was closed and anoplasty was performed. The postoperative course was uneventful, and the patient was discharged 10 days postoperatively. At the 8-month follow-up, the patient had not received prophylactic antibiotics and had no symptoms of urinary tract infection or epididymitis. After discharge, the patient was able to urinate through the newly created urethral external orifice. A MCUG was performed showing normal filling contour with neither VUR nor significant post voiding residual. After explaining the nature ofthe abnormality and management options to the parents, it isanticipated that the patient will undergo nephalloplasty at the

time of puberty (age 10–15 years) when he reaches a height of at least 160 cm.

Conclusion:

The embryology of this rare anomaly has been attributed to the failure of the genital tubercle to develop, along with the incomplete separation of the urogenital sinus from the hindgut by the urorectal septum. A typical diagnosis of PA includes a 46 XY normal male karyotype, complete absence of the penis, a normal scrotum, and normal, often undescended testicles. The urethral opening is typically found in the perineal region, often within a foreskin-like skin tag or on the anterior rectal wall. PA must be distinguished from other conditions such as rudimentary penis, micropenis, concealed penis, intrauterine penile amputation, and disorders of sexual development.

PA is generally identified at birth. Historically, infants with PA underwent gender reassignment surgery, which involved bilateral orchiectomy, urethral transposition, vaginal creation, and labial reconstruction. While satisfactory outcomes have been noted, long-term follow-up often reveals a male-typical shift in psychosocial and psychosexual development. Given that gender identity solidifies after the second year of life, several experts recommend masculinizing procedures to avoid psychological distress for both the child and their parents, as was advised in this case.

In summary, managing Aphallia is complex and requires a multidisciplinary approach. The care team should include specialists such as a pediatric urologist, pediatrician, endocrinologist, geneticist, and mental health professional. If patients or parents decline surgical intervention, they should be thoroughly informed about the potential long-term consequences of the anomaly and encouraged to attend regular follow-up appointments with a pediatric urologist.