Nahid E, Ahmad MF, Shafique MA. Congenital aphallia: From embryology to management - a focused minireview. World J Clin Pediatr 2026; 15(3): 121760 [DOI: 10.5409/wjcp.121760]
Corresponding Author of This Article
Md Fahim Ahmad, Assistant Professor, Department of Pediatric Surgery, All India Institute of Medical Sciences - Central Armed Police Force Institute of Medical Sciences, Maidangarhi, New Delhi 110068, Delhi, India. fahimrockz90@gmail.com
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Pediatrics
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Nahid E, Ahmad MF, Shafique MA. Congenital aphallia: From embryology to management - a focused minireview. World J Clin Pediatr 2026; 15(3): 121760 [DOI: 10.5409/wjcp.121760]
World J Clin Pediatr. Sep 9, 2026; 15(3): 121760 Published online Sep 9, 2026. doi: 10.5409/wjcp.121760
Congenital aphallia: From embryology to management - a focused minireview
Eram Nahid, Md Fahim Ahmad, Mohd Arif Shafique
Eram Nahid, Department of Endocrinology, All India Institute of Medical Sciences, New Delhi 110029, Delhi, India
Md Fahim Ahmad, Department of Pediatric Surgery, All India Institute of Medical Sciences - Central Armed Police Force Institute of Medical Sciences, New Delhi 110068, Delhi, India
Mohd Arif Shafique, Department of Pediatrics, Uttar Pradesh University of Medical Sciences, Etawah 206130, Uttar Pradesh, India
Author contributions: Nahid E and Ahmad MF designed the study and performed the literature review, data extraction, analyzed the data, drafted the manuscript, and preparation of figures and tables; Nahid E, Ahmad MF, Shafique MA contributed to manuscript writing; Shafique MA contributed to data interpretation and coordinated the study. All authors critically revised the manuscript for important intellectual content and have read and approved the final version of the manuscript.
AI contribution statement: The authors used an AI-based tool (Notebook LLM, Google) solely to assist in the preparation of one illustrative figure only (Figure 1). The conceptualization and content of the manuscript were entirely developed by the authors. No AI tools were used for manuscript writing or for creating tables/other images. All content was critically reviewed and approved by the authors, who take full responsibility for its accuracy and integrity. AI-based writing tool was not used in the preparation of the manuscript text or in drafting the response to reviewers’ comments.
Conflict-of-interest statement: All the authors report no relevant conflicts of interest for this article.
Corresponding author: Md Fahim Ahmad, Assistant Professor, Department of Pediatric Surgery, All India Institute of Medical Sciences - Central Armed Police Force Institute of Medical Sciences, Maidangarhi, New Delhi 110068, Delhi, India. fahimrockz90@gmail.com
Received: April 1, 2026 Revised: May 20, 2026 Accepted: June 9, 2026 Published online: September 9, 2026 Processing time: 120 Days and 5.5 Hours
Abstract
Aphallia, or penile agenesis, is an extremely rare congenital anomaly with fewer than 100 cases reported worldwide. It results from failed development of the genital tubercle during early embryogenesis, leading to complete absence of penile structures and abnormal urethral opening. This defect is often part of a broader caudal developmental disturbance and is frequently associated with genitourinary anomalies such as urethrorectal fistula, renal agenesis, renal dysplasia, hydronephrosis, and cryptorchidism, all of which significantly influence prognosis. Diagnosis requires careful differentiation from conditions that mimic genital absence, including concealed penis, micropenis, disorders of sex development, and intrauterine penile injury. Several classification systems exist based on urethral location, severity of associated anomalies, and presence of a functional urinary meatus. Management has historically been controversial. Earlier recommendations favored feminizing genitoplasty in infancy; however, growing recognition of prenatal androgen imprinting and the risk of later gender dysphoria has shifted current practice toward male gender assignment and staged neophalloplasty. Reconstructive strategies include temporary non-microsurgical flaps in childhood and definitive microsurgical phalloplasty in adolescence or adulthood. Urethral reconstruction remains a major surgical challenge. Optimal care requires a multidisciplinary team. This review summarizes embryology, clinical spectrum, diagnosis, and evolving management of aphallia.
Core Tip: Congenital aphallia is an exceptionally rare anomaly with significant diagnostic, reconstructive and psychosocial challenges. Early recognition and differentiation from mimicking conditions are essential. The condition frequently coexists with multisystem anomalies, which largely determine prognosis. Management has evolved from routine feminizing genitoplasty to a more individualized, patient-centered approach favoring male gender assignment and staged reconstruction. Modern surgical strategies, particularly microsurgical neophalloplasty, offer improved functional and cosmetic outcomes, although challenges in urethral reconstruction persist. A multidisciplinary approach and long-term follow-up are crucial. Emerging advances in tissue engineering hold promise for future reconstructive solutions.
