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=Volume 13 - 2023

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 a case of a 38-year-old man whose diagnostic work-up for primary infertility led to the discovery of obstructive azoospermia due to bilateral papillary cystadenoma of the epididymis (PCE). Given the rarity of the finding and since PCE might be a manifestation of Von Hippel Lindau disease (VHL), although the patient had no family nor personal history of VHL, VHL gene was tested and a known pathogenetic variant (c.464-1G>A; p.?) was found. The screening for other Von Hippel Lindau disease-associated neoplasms found bilateral retinal capillary hemangioblastomas, clear cell renal cell carcinoma and many pancreatic cysts. In this case, an accurate diagnostic work-up for male infertility allowed the detection of a rare life-threatening syndrome, already presenting with several silent neoplasms. For this reason, this case report can be useful for specialists in the field of reproductive medicine in the management of male infertility.