Zinner syndrome: report of a case and whole exome sequencing.

ABSTRACT:

Background

Zinner syndrome is a rare congenital malformation of the male genitourinary system, characterized by a triad: seminal vesicle cyst, unilateral renal agenesis, and ipsilateral ejaculatory duct obstruction. The etiology of this uncommon disease remains largely elusive; however, genetic mutations may contribute to its development. In this report, we present a case of symptomatic Zinner syndrome that was surgically treated, alongside an investigation into the potential genetic basis of the syndrome via whole exome sequencing.

Case presentation

We report the case of an 18-year-old male presenting with urinary pain and was diagnosed with right renal agenesis and a left seminal vesicle cyst following comprehensive imaging. The patient also experienced perineal pain and u

SUBMITTER: He J 

PROVIDER: S-EPMC11895205 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature