Sertoli-Leydig Cell Tumour in a Patient with Ambiguous Genitalia and Congenital Adrenal Hyperplasia

Abstract

Background: Hyperandrogenism, characterized by elevated levels of male hormones such as testosterone, presents various clinical manifestations including secondary amenorrhea, hirsutism, and clitoromegaly. While often associated with polycystic ovarian syndrome, other differentials such as Sertoli-Leydig cell tumors and Congenital Adrenal Hyperplasia (CAH) are critical to consider. These conditions can manifest at different life stages and are seldom seen together. Objective: This case study aims to explore the rare co-presentation of CAH and a Sertoli-Leydig cell tumor in a patient presenting with secondary amenorrhea and ambiguous genitalia, and to discuss the diagnostic challenges and management strategies involved. Methods: A 16-year-old female presented with irregular menstrual cycles and secondary amenorrhea, alongside symptoms of hyperandrogenism such as voice deepening and hirsutism. Diagnostic procedures included physical examinations, ultrasound imaging, and hormone level assessments. A detailed ultrasound revealed a large right-sided ovarian mass, and biopsies confirmed a Sertoli-Leydig cell tumor. Surgical intervention involved the excision of the mass, with subsequent histopathological examination. The patient underwent three cycles of chemotherapy and was scheduled for reconstructive surgery. Results: Ultrasound dimensions of the ovarian mass were 7.2 x 13.4 x 16 cm, with the post-surgical tumor measuring 18 x 17 cm. Laboratory findings included testosterone levels above 200 ng/ml, and elevated alpha-fetoprotein levels. The histopathological report confirmed a poorly differentiated Sertoli-Leydig cell tumor (FIGO stage 1a). Post-treatment follow-up showed a marked reduction in androgen levels and stabilization of the patient's menstrual cycle. Conclusion: The coexistence of CAH and a Sertoli-Leydig cell tumor presents unique diagnostic and therapeutic challenges. This case emphasizes the importance of a thorough evaluation and a multidisciplinary approach in the management of complex hyperandrogenic states to achieve optimal clinical outcomes.