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Updated: Dec 20, 2025

A Protocol for Comprehensive Assessment of Bulbar Dysfunction in Amyotrophic Lateral Sclerosis ALS
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[Aphallia - report of two cases].

P Hagelschuer1, B Mack-Detlefsen, E Korsch

  • 1Klinik für Kinderchirurgie und Kinderurologie, Kinderkrankenhaus Amsterdamer Straße, Amsterdamer Straße 59, 50735, Köln, Deutschland. hagelschuerp@kliniken-koeln.de.

Der Urologe. Ausg. A
|May 31, 2020
PubMed
Summary

Aphallia, a rare congenital condition, presents without a penis and often co-occurs with other urogenital and gastrointestinal anomalies. Management involves discussing temporary options and planning definitive phalloplasty post-puberty.

Keywords:
AndrogensAnorectal malformationDuplex kidneyPenile agenesisPhalloplasty

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Area of Science:

  • Urology
  • Pediatric Surgery
  • Medical Genetics

Background:

  • Aphallia is an extremely rare congenital malformation with an incidence of 1 in 10-30 million live births.
  • Over 50% of cases are associated with other congenital anomalies, particularly urogenital and gastrointestinal.
  • The diagnosis is clinical, characterized by the absence of corpora cavernosa and corpus spongiosum, with a midline urethral opening.

Observation:

  • Two cases of male newborns (46,XY) with aphallia are presented.
  • The first case involved multiple anomalies: bilateral intraabdominal testes, anorectal malformation with rectovesical fistula, left renal duplication, and right vesicoureteral reflux.
  • The second case had isolated aphallia with an inguinal hernia, lacking other urological or anorectal malformations.

Findings:

  • The first patient required multiple corrective surgeries for associated anomalies.
  • Temporary treatments for aphallia included scrotal/parascrotal phalloplasty or penile prosthesis.
  • Definitive phalloplasty was planned for puberty, while feminization is considered medically and legally unjustifiable.

Implications:

  • This highlights the complex management of aphallia, often requiring a multidisciplinary approach.
  • Early discussion of treatment options with parents is crucial for informed decision-making.
  • Current medical and legal standards do not support feminization as a primary treatment for aphallia.