Penile hypoplasia associated with anorectal malformation: What should we call this condition?
Keywords:Anorectal malformations, Aphallia, Cloaca
Background: Urogenital abnormalities are common in patients with anorectal malformations (ARM). The wide spectrum of urogenital abnormalities and ARM sometimes make it difficult to name the conditions simply.
Case Presentation: We experienced a case of penile hypoplasia associated with the urethrorectal communication.
Conclusion: From the viewpoint of urogenital anomalies, we might call this condition “aphallia variant” or “absent penis spectrum”. On the other hand, from the viewpoint of ARM, we might call this condition “male posterior cloaca” or “partial urorectal septum malformation sequence”. More important than naming them is understanding the clinical conditions precisely.
Penã A. Urologic problems in anorectal malformations. In: Surgical Treatment of Colorectal Problems. Edited by Penã A and Bischoff A. Switzerland: Springer; 2015: 371–96.
Sorantin E. Urinary problems associated with imperforate anus. In: Pediatric Urogenital Radiology. 3rd edition. Edited by Riccabona M. Switzerland: Springer; 2018: 373–84.
Penã A. Cloaca, posterior cloaca and absent penis spectrum. In: Surgical Treatment of Colorectal Problems. Edited by Penã A, Bischoff A. Switzerland: Springer; 2015: 225–83.
Palmer LS. Management of abnormalities of the external genitalia in boys. In: Campbell-Walsh Urology. 12th edition. Edited by Partin AW, Dmochowski RR, Kavoussi LR, Peters CA. Philadelphia: Elsevier; 2020: 876-7.
Hendren WH. The genetic male with absent penis and urethrorectal communication: experience with 5 patients. J Urol. 1997; 157:1469-74.
Coquet-Reinier B, Merrot T, Chaumoître K, Alessandrini P. Atypical aphallia. Pediatr Surg Int. 2007; 23:1131-3.
Gérard-Blanluet M, Lambert V, Khung-Savatovsky S, Perrin-Sabourin L, Passemard S, Baumann C, et al. Aphallia, lung agenesis and multiple defects of blastogenesis. Fetal Pediatr Pathol. 2011; 30:22-6.
Wheeler PG, Weaver DD. Partial urorectal septum malformation sequence: a report of 25 cases. Am J Med Genet. 2001; 103:99-105.
Peña A, Kessler O. Posterior cloaca: a unique defect. J Pediatr Surg. 1998; 33:407-12.
Gabler T, Charlton R, Loveland J, Mapunda E. Aphallia: a review to standardize management. Pediatr Surg Int. 2018; 34:813-21.
How to Cite
Copyright (c) 2022 Chikako Nakata, Eiji Hisamatsu, Atsunori Muraki, Motofumi Tajima, Kaoru Yoshino
This work is licensed under a Creative Commons Attribution 4.0 International License.
You are free to:
- Share — copy and redistribute the material in any medium or format
- Adapt — remix, transform, and build upon the material for any purpose, even commercially.
- Attribution — You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.
- No additional restrictions — You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.