Epispadias
The most likely diagnosis in a 3-day-old male infant with the urethral meatus located on the dorsal surface of the penis is epispadias, not hernia, hydrocele, or hypospadias.
Key Distinguishing Features
Epispadias is defined by the urethral opening on the dorsal (upper) aspect of the penis, which is the exact presentation described in this case. 1 This is a rare congenital malformation occurring in approximately 1 in 120,000 live births. 2
Critical Anatomic Differences
- Epispadias: Urethral meatus on the dorsal (top) surface of the penis 1, 2
- Hypospadias: Urethral meatus on the ventral (underside) surface of the penis, occurring in approximately 1 in 125-200 live male births 3, 4
The dorsal location immediately excludes hypospadias from consideration, as hypospadias by definition involves ventral displacement of the urethral opening. 3, 5
Why Not Hernia or Hydrocele?
Neither inguinal hernia nor hydrocele presents with abnormal urethral meatus placement:
- Inguinal hernia manifests as an inguinal or scrotal bulge and is commonly associated with cryptorchidism, but does not affect urethral position 6
- Hydrocele presents as scrotal swelling from fluid accumulation around the testis, with normal urethral anatomy 7
Clinical Presentation of Epispadias
Epispadias consists of a defect of the dorsal aspect of the penis, leaving the urethral plate open dorsally. 1 The condition may present with:
- Dorsal urethral opening (as in this case) 1, 2
- Phimotic preputial orifice where the glans may not be visible (concealed epispadias) 2
- Potential dorsal chordee (penile curvature) 2
- Variable degrees of urinary incontinence depending on the proximal extent of the defect and sphincter involvement 1
Immediate Management Considerations
Do not perform circumcision on this infant. 4 The foreskin tissue may be needed for future surgical reconstruction.
Refer immediately to a pediatric urologist for evaluation and surgical planning. 4 Surgical correction typically involves:
- Anatomic restoration of the urethra 1
- Correction of dorsal chordee 2
- Reconstruction of the glans 2
- Optimal timing for surgery is generally between 6-18 months of age, similar to hypospadias repair 3, 4
Common Pitfall
Concealed epispadias is frequently misdiagnosed because patients may present with buried penis and non-retractile prepuce, masking the underlying urethral abnormality. 2 Careful examination revealing the dorsal location of the urethral meatus is essential for correct diagnosis.