Recommended Workup for Hypospadias
The recommended workup for hypospadias should include a complete physical examination, screening for associated anomalies, and selective additional testing based on the severity of the defect, with referral to a surgical specialist by six months of age for timely evaluation and management.
Initial Assessment
Physical Examination
- Assess the position of the urethral meatus (distal, midshaft, proximal, or perineal)
- Evaluate for penile curvature (chordee)
- Examine the foreskin (typically deficient ventrally with dorsal hood)
- Assess the size and shape of the glans
- Perform a thorough genital examination including:
- Testicular examination for cryptorchidism
- Assessment for inguinal hernias
- Evaluation of scrotal development
Critical Considerations
- Timing: Refer to a surgical specialist by 6 months of age (corrected for gestational age) for timely evaluation 1
- Bilateral nonpalpable testes: Requires immediate specialist consultation to evaluate for possible disorders of sex development 1
- Avoid circumcision: Preserve foreskin tissue that may be needed for surgical repair
Additional Workup Based on Severity
For Distal Hypospadias (70% of cases)
- No additional workup typically needed if isolated anomaly
- Physical examination is usually sufficient
For Proximal/Severe Hypospadias (30% of cases)
- Urinalysis: To rule out urinary tract infection or hematuria
- Renal ultrasound: Consider in severe cases to rule out associated urinary tract anomalies
- Endocrinological evaluation: Recommended when hypospadias is associated with:
- Bilateral or unilateral undescended testes
- Micropenis
- Other genital ambiguity
For Bilateral Nonpalpable Testes with Hypospadias
- Immediate specialist referral: Critical to rule out disorders of sex development 1
- Hormone testing: Measure müllerian inhibiting substance (MIS) or anti-müllerian hormone (AMH) 1
- Additional hormone testing: Consider to evaluate for anorchia 1
- Avoid circumcision: Until workup is complete, even with normal-appearing penis 1
Important Considerations
What NOT to Do
- Avoid ultrasound or imaging prior to referral: These studies rarely assist in decision making for hypospadias 1
- Avoid routine laboratory studies: For isolated anterior or middle hypospadias, laboratory studies are not usually necessary 2
Associated Conditions to Screen For
- Cryptorchidism (most common associated anomaly)
- Inguinal hernia
- Urinary tract anomalies (more common with posterior hypospadias)
- Disorders of sexual development (especially with proximal hypospadias and undescended testes)
Timing Considerations
- Ideal age for surgical repair in a healthy child: 6-12 months 2, 3
- Complications increase in patients older than 12 months (18.7% vs 3.4% in younger patients) 3
- Referral by 6 months allows for timely surgical planning 1
By following this systematic approach to the workup of hypospadias, clinicians can ensure appropriate evaluation and timely referral for surgical management, which is critical for optimal outcomes in terms of both functional and cosmetic results.