"Zinner Syndrome: A Comprehensive Review of Pathophysiology, Diagnosis, and Management"

Abstract

Zinner Syndrome is a rare congenital disorder characterized by the combination of ipsilateral renal agenesis, seminal vesicle cysts, and sometimes prostate abnormalities. It primarily affects males due to malformations of the male reproductive system. The pathophysiology of Zinner Syndrome is rooted in the abnormal development of the Wolffian duct during embryogenesis, leading to defective formation of essential structures such as the kidneys and seminal vesicles. Most commonly, Zinner Syndrome presents with infertility, as the seminal vesicle cysts obstruct the ejaculatory ducts, preventing sperm flow. Additionally, affected individuals may experience renal dysfunction, although this is less common and often compensated for by the remaining kidney. Diagnosis typically occurs during infertility evaluations, with imaging techniques such as ultrasound and MRI playing a critical role in identifying the characteristic renal and reproductive anomalies. Treatment strategies involve surgical interventions to remove or drain the seminal vesicle cysts, and for many, assisted reproductive technologies (ART) like sperm retrieval and in vitro fertilization (IVF) may be required to achieve biological fatherhood. While the prognosis for renal function is generally favorable with appropriate monitoring, infertility remains a major challenge, and the success of fertility treatments varies. The condition’s rarity and variability in presentation make it difficult to diagnose early, necessitating a multidisciplinary approach for optimal care. Future research should focus on understanding the genetic basis, improving diagnostic methods, and exploring new therapeutic options for fertility restoration and renal preservation. Multicenter studies and patient registries will be essential in gathering data for better clinical management and long-term outcome prediction.