Congenital aphallia associated with congenital urethrorectal fistula

Abstract

Rationale:Aphallia is an extremely rare congenital malformation of unknown cause, with few reports in the literature. It is usually associated with other urogenital and gastrointestinal anomalies and is believed to be a result of either the absence of a genital tubercle or chromosome polymorphism. Herein, we describe an extremely rare case of congenital aphallia with congenital urethrorectal fistula and describe our treatment for this patient.Patient concerns:An 8-year-old boy was brought to our hospital by his parents because of congenital absence of the penis. The child was male per karyotype and had excess heterochromatin on chromosome 9 (46 XY with 9 qh+). No urethral orifice was identified, and urine passed rectally since birth; thus, urinary tract outlet obstruction led to urine reflux from the anus to the epididymis for a long time. The boy had to be placed on prophylactic antibiotics because he developed urinary tract infection and epididymitis almost every day.Diagnosis:Congenital aphallia (46 XY normal male karyotype) associated with congenital urethroretal fistula.Interventions:We performed urethral exteriorization via perineal urethroplasty and urethrorectal fistula repair. The parents approved for phallic reconstruction when the boy reached puberty.Outcome:A new external urethral orifice was created on the lower scrotum. The urinary reflux was corrected, and the epididymitis symptoms disappeared. The urethral fistula was then closed. At 8 months follow up, the patient was no longer on antibiotics and had no symptoms of urinary tract infection or epididymitis.Conclusions:Compatible treatment should be adopted to address urinary tract drainage and infection. Management requires a stepwise approach to address needs as they arise. Neophalloplasty should be performed by an experienced team in early adolescence.

Aphallia - congenital absence of the penis: a systematic review

“…Kian et al, 2022 [ 5 ] 14 months 2.7 kg Aphallia • Penile absent • OUE not detected • Passing urine from anus • Scrotum developed • Bilateral descended testes • USG: Hipoplasia left kidney, mild diffuse wall thickening of uninary bladder • CT Scan, IV contrast, Hipoplasia of left kidney • Rectal enema with soluble contrast: Vesico rectal fistula, normal anus closure 2. Luo et al, 2022 [ 6 ] 8 years old - Absence of penis • Penile absent • Orificium urethræ externum not detected • Passing urine from anus • Scrotum developed • Bilateral descended testes • Anterograde urography: Fistula urethrorectal • Echocardiography, electrocardiogram, Chest CT, USG Abdominal normal • Karyotype chromosome: 46,XY • Blood chemistry and hematology test: Normal limits • Urine analisys: Normal limit • Urethral exteriorization via perineal urethroplast • Planned nephalloplasty at the time of puberty (age 10–15 years) 3. Braun et al, 2022 [ 7 ] 3 years Old - “Aphallia, norectal malformation without fistula • Absent of phallus • Normally descended testes • Anorectal malformation • Perineal urethra • The renal and bladder ultrasound, CT Scan, IV contrast: Malrotated kidneys • Magnetic resonance imaging: No visualisation of the corpora cavernosa or corpus spongiosum, normal sacrum and spinal cord - • Colostomy during the neonatal period followed by posterior-sagittal anorectoplasty • Perineal urethral closure • Suprapubic catheter (SPC) placement 4.…”

“…The most cases were reported in the USA which were 31% (n:13) of all cases [ 2 , 7 , 8 , 12 , 16 , 30 , 32 – 34 ], followed by India with 21% (n:9) [ 14 , 18 , 19 , 21 , 25 , 29 , 34 ] Iran with 12% (n:5) [ 5 , 13 , 17 ], China with 7.3% [ 1 , 6 , 23 ], Turkey with 4% (n:2) [ 15 , 31 ], France with 4% (n:2) [ 23 , 27 ], Japan with 4% (n:2) [ 26 , 27 ], Morocco with 4% (n:2) [ 9 , 10 ], Mexico with 2% (n:1) [ 3 ], UK with 2% (n:1) [ 11 ], and Senegal with 2% (n:1) [ 22 ].…”

“…The majority of cases involve males with 97% (n:40) of all cases (1–3,7–29), and 2% (n:1) was female [ 2 ]. Of the 35 cases, the majority with 48% (n:20) cases were term neonates [ 2 , 3 , 8 – 12 , 14 , 17 , 18 , 21 , 22 , 25 , 28 , 30 , 33 ], while 19% (n:8) were preterm neonates [ 2 , 13 , 24 , 26 , 32 , 34 ], 9% (n:4) were infants [ 1 , 16 , 25 , 34 ], 9% (n:4) were under five [ 5 , 7 , 19 , 27 ],and 12% (n:5) were over 5 years old [ 6 , 15 , 23 , 29 , 31 ]. The patient with the lowest gestational age was 31 weeks [ 13 ], with the oldest patient ‘s age was 31 years old [ 23 ].…”

“…Karyotype examination was performed in 29 cases. Almost all of these cases reported karyotype XY with 68% (n:28) [ 1 , 2 , 6 , 8 – 13 , 15 , 16 , 18 , 20 – 25 , 27 , 28 , 30 , 31 , 33 ], and 2% (n:1) case reported 46XX karyotype [ 2 ].…”

Adult Patients with Aphallia: Were they Fertile?

“…However, Qiang et al (2019) found chromosome 9 heterochromatin (9 qh +) was responsible for the protective function and regulation of hereditary diseases and susceptibility to congenital disease from the father of aphallia's patients (Qiang et al, 2019). Consistently Luo study showed that congenital aphallia is associated with congenital urethrorectal fistula which is regulated by the same chromosome (Luo et al, 2022) Another examination to identify male fertility is whether there is a deletion or not on the Y chromosome that causes significant failure of spermatogenesis. The gene responsible for human spermatogenesis is the AZF locus.…”