Hypospadias Differential Diagnoses

Updated: Oct 04, 2023
  • Author: John Michael Gatti, MD; Chief Editor: Marc Cendron, MD  more...
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Diagnostic Considerations

In 1981, Khuri et al reviewed more than 1000 patients with hypospadias and reported that the incidence of undescended testes and inguinal hernias was 9% for each. [32] With more severe forms of hypospadias, the incidence of undescended testes exceeded 30%, and the incidence of inguinal hernias approached 20%. It is important to evaluate the position of the testes and assess for the presence of inguinal hernia as part of the physical examination for hypospadias.

The combination of hypospadias and undescended testis can be an indicator of an underlying difference (disorder) of sex development (DSD). [33] In a 1999 study by Kaefer et al, DSD states were identified in approximately 30% of patients with unilateral or bilateral undescended testes and hypospadias, and a more proximal meatal location carried a higher association of DSD states than a more distal meatal location. [34] If any gonad was nonpalpable, the incidence rose to 50%; however, if both gonads were palpable, the incidence was only 15%.

A prostatic utricle is occasionally noted when catheterization of the urethra is attempted in patients with hypospadias. A prostatic utricle is a müllerian duct remnant that typically regresses in boys. There is a high association between a prominent utricle, an outpouching off the posterior aspect of the prostate, and hypospadias, particularly the more severe forms. These are often asymptomatic but can cause difficulty with catheterization, lead to stasis of urine and urinary tract infection, or collect debris or stones. They sometimes require surgical excision. [35]

Differential Diagnoses