Hypospadias and urethral abnormalities in Down syndrome

Area of Science:

• Pediatric Urology
• Clinical Genetics
• Medical Research

Background:

• Down syndrome (DS) is a genetic disorder associated with various congenital anomalies.
• Urethral abnormalities, including hypospadias, can occur in the general population.
• The specific association between Down syndrome and distal hypospadias with dorsal urethral duplications requires further investigation.

Purpose of the Study:

• To investigate the occurrence of distal hypospadias and dorsal urethral duplications in males with Down syndrome.
• To determine if these urethral anomalies are more prevalent in individuals with Down syndrome compared to the general population.

Main Methods:

• Retrospective review of medical records for 149 children and adolescents and 11 adults with Down syndrome.
• Clinical examination to identify urethral anomalies, specifically focusing on hypospadias and urethral duplications.
• Laboratory, nephrology history, and radiographic studies were conducted to assess associated urinary tract abnormalities.

Main Results:

• Five out of 77 males with Down syndrome presented with dorsal urethral duplications.
• All affected individuals had a single urethral meatus, with a second opening leading to a blind channel, indicative of distal hypospadias.
• Laboratory and radiographic studies did not reveal significant abnormalities in the kidneys or ureters in these patients.

Conclusions:

• There is an increased occurrence of distal hypospadias in males with Down syndrome.
• Dorsal urethral duplications, potentially presenting as a glanular hypospadias with a blind channel, are associated with Down syndrome.