SUN-121 Steroid cell tumor of the ovarian masquerading congenital adrenal hyperplasia

Abstract Disclosure: M. Tanariyakul: None. S.C. Macapagal: None. C. Wannaphut: None. K. Wirunsawanya: None. Introduction: Von Hippel-Lindau (VHL) disease is an autosomal dominant genetic disorder characterized by a predisposition to multiple tumor types, due to mutations in the VHL gene affecting hypoxia-inducible pathways. Individuals with VHL disease are born with one inactivated copy of the VHL gene in all cells, and the loss of function of the second gene copy through somatic mutation or deletion typically leads to tumorigenesis. Case report We report the eighth documented case of a 39-year-old female with Type 2 VHL disease and an ovarian steroid cell tumor, therefore broadening the range of VHL-associated neoplasms.The patient exhibited a history of irregular menstrual cycles since the age of 13, progressive hirsutism, weight gain, and multiple pancreatic cysts. A pathogenic deletion in the VHL gene was identified, consistent with VHL syndrome. She displayed elevated 17 hydroxyprogesterone and testosterone levels, initially raising concerns for congenital adrenal hyperplasia (CAH). However, genetic testing ruled out CAH. A CT scan revealed a hypervascular ovarian mass, subsequently diagnosed as a steroid cell tumor via pathology. The tumor cells tested positive for calretinin and inhibin while demonstrating negativity for cytokeratins and EMA. Following robotic-assisted laparoscopic salpingo-oophorectomy, her androgen level normalized, and her symptoms resolved. Conclusion This case describes the diagnostic challenges in distinguishing CAH-like biochemical profiles from rare androgen-secreting tumors in VHL patients. It emphasizes the importance of considering ovarian steroid cell tumors in VHL disease, enhancing our understanding of the malignancies associated with this disorder. Presentation: Sunday, July 13, 2025