In a 3‑year‑old boy with unilateral undescended testis and absent scrotum on that side, which associated finding is most likely?

Inguinal Hernia is the Most Likely Associated Finding

In a 3-year-old with unilateral undescended testis and absent scrotum on the affected side, inguinal hernia is the most strongly associated condition and represents a primary indication for surgical intervention. 1

Primary Associated Condition

• The American Urological Association explicitly identifies inguinal hernia as one of the main reasons for treatment of cryptorchidism, alongside fertility preservation, malignancy risk reduction, and torsion prevention. 1

• Inguinal hernia is directly emphasized in primary cryptorchidism treatment guidelines as a key complication requiring intervention, making it the most clinically relevant associated finding in this scenario. 1

• Physical examination should specifically assess for an inguinal bulge or hernia in any boy presenting with cryptorchidism. 1

• All infant inguinal hernias require surgical repair to prevent bowel incarceration and gonadal infarction, with concurrent repair at orchiopexy (ideally before 18 months of age) being the standard approach. 1

Why Hypospadias is Less Likely in This Case

• While hypospadias can co-occur with cryptorchidism, this association is more common in boys with proximal hypospadias and suggests aberrant androgen signaling as a shared mechanism. 1

• The combination of cryptorchidism with phallic anomalies (hypospadias, micropenis) or absent scrotum should prompt evaluation for disorders of sex development, potentially including life-threatening congenital adrenal hyperplasia in a genetic female. 1

• However, inguinal hernia remains the single most common structural anomaly directly linked to cryptorchidism in AUA guidelines, making it the best answer for a typical exam question. 1

Conditions NOT Associated with Cryptorchidism

• Pyloric stenosis has no association with cryptorchidism; these conditions arise from completely distinct embryologic pathways. 1

• Congenital heart defects are not linked to isolated cryptorchidism according to American Urological Association guidelines. 1

Clinical Algorithm for This Patient

1. Examine for inguinal hernia (bulge, palpable mass in inguinal canal). 1

2. Assess for additional genital anomalies (hypospadias, micropenis) that would mandate workup for disorders of sex development. 1

3. Refer immediately to pediatric urology/surgery for orchiopexy with concurrent hernia repair before 18 months of age. 1, 2

4. Counsel family about lifelong testicular cancer surveillance (2.75-8× increased risk) and potential fertility impairment despite timely surgery. 3

Common Pitfalls

• Failing to examine for inguinal hernia at initial presentation delays appropriate surgical planning. 1

• Missing the combination of cryptorchidism with absent scrotum and other genital anomalies can result in undiagnosed disorders of sex development, including life-threatening adrenal crisis. 1

• Delaying referral beyond 6 months of age increases risk of germ cell damage, which begins after 15-18 months. 3, 2

Answer: B - Inguinal hernia 1