He Jiatai, Wei Chengcheng, Huang Yu, Xu Feixiang, Wang Miao, Chen Zhaohui
Department of Urology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, 430074, China.
Department of Urology, The First Affiliated Hospital of Chongqing Medical University, Chongqing, 400016, China.
Basic Clin Androl. 2025 Mar 11;35(1):10. doi: 10.1186/s12610-025-00256-3.
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.
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.
Zinner syndrome is a rare condition commonly diagnosed via various imaging modalities. Surgical resection remains the most effective treatment for symptomatic cases. Gene sequencing provides valuable insights into the genetic etiology of Zinner syndrome, enhancing our understanding and potentially guiding future diagnostic approaches.
津纳综合征是一种罕见的男性生殖泌尿系统先天性畸形，其特征为三联征：精囊囊肿、单侧肾缺如和同侧射精管梗阻。这种罕见疾病的病因在很大程度上仍不清楚；然而，基因突变可能在其发病过程中起作用。在本报告中，我们介绍了一例经手术治疗的有症状的津纳综合征病例，并通过全外显子组测序对该综合征的潜在遗传基础进行了研究。
我们报告了一例18岁男性，因尿痛就诊，经全面影像学检查后被诊断为右肾缺如和左精囊囊肿。患者还经历会阴部疼痛和尿急，无尿频、排尿困难或血尿症状，且无泌尿生殖系统异常的家族史记录。他成功接受了盆腔肿块的腹腔镜切除术，病理检查证实为精囊囊肿。术后恢复顺利。血液和组织样本的全外显子组测序突出显示骨髓瘤过表达基因（MYEOV）、B黑色素瘤抗原家族成员（BAGE）和N-乙酰化-α-连接酸性二肽酶2（NAALAD2）为与津纳综合征相关的潜在突变基因。此外，还鉴定出两个易患基因变异。
津纳综合征是一种罕见疾病，通常通过各种影像学检查来诊断。手术切除仍然是有症状病例最有效的治疗方法。基因测序为津纳综合征的遗传病因提供了有价值的见解，增进了我们的理解，并可能指导未来的诊断方法。
