AUTHOR=Scafa Raffaele , Merico Maurizio , Ferrara Alfonso Massimiliano , Watutantrige Fernando Sara , Srsen Pava , Schiavi Francesca , Zovato Stefania , Ferlin Alberto TITLE=Case report: Obstructive azoospermia as the first presentation of Von Hippel-Lindau disease JOURNAL=Frontiers in Oncology VOLUME=13 YEAR=2023 URL=https://www.frontiersin.org/journals/oncology/articles/10.3389/fonc.2023.1296555 DOI=10.3389/fonc.2023.1296555 ISSN=2234-943X ABSTRACT=

We report the case of a 38-year-old man whose diagnostic workup for primary infertility led to the discovery of obstructive azoospermia due to bilateral papillary cystadenoma of the epididymis (PCE). Given the rarity of this finding and because PCE could be a manifestation of Von Hippel-Lindau disease (VHL), although the patient had no family or personal history of VHL, the VHL gene was tested, and a known pathogenetic variant (c.464-1G>A; p.)? was found. Screening for other Von Hippel-Lindau disease-associated neoplasms revealed bilateral retinal capillary hemangioblastomas, clear cell renal cell carcinoma, and multiple pancreatic cysts. In this case, an accurate diagnostic workup for male infertility allowed the detection of a rare life-threatening syndrome, already presenting with several silent neoplasms. For this reason, this case report may be useful for reproductive medicine specialists in the management of male infertility.