Zinner syndrome: report of a case and whole exome sequencing

作者：J. J. He, Chengcheng Wei, Yu Huang, Feixiang Xu, Miao Wang, Zhaohui Chen · 发表于：Basic and Clinical Andrology · 年份：2025 · DOI：10.1186/s12610-025-00256-3 · 被引用次数：7 · 研究领域：Urologic and reproductive health conditions、Urological Disorders and Treatments、Urinary and Genital Oncology Studies

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 urgency, without symptoms of frequent urination, dysuria, or hematuria, and no familial history of genitourinary anomalies was documented. He successfully underwent laparoscopic resection of a pelvic mass, with pathological examination confirming a seminal vesicle cyst. Postoperative recovery was uneventful. Whole exome sequencing of blood and tissue samples highlighted myeloma overexpressed gene (MYEOV), B melanoma antigen family member (BAGE), and N-acetylated-alpha-linked acidic dipeptidase 2 (NAALAD2) as potential mutated genes related to Zinner syndrome. Additionally, two predisposing genetic variants were identified. CONCLUSIONS: Zinner syndrome is a rare condition commonly diagnosed via various ima...