Mixed Ovarian Dissecting Gonadoblastoma Coexisting with Dysgerminoma, Trophoblastic Tumor, and Leydig Cell Tumor in a Phenotypically Normal 46, XX Female: A Case Report.

BACKGROUND: Gonadoblastoma (GB) is a rare gonadal neoplasm consisting of germ cells and immature sex cord stromal cells, defined as an in situ malignant tumor that is accompanied by various aggressive malignant components in some cases. GB predominantly arises in patients with gonadal dysgenesis carrying Y chromosome material, while its occurrence in phenotypically normal females with a 46, XX karyotype is extremely rare. CASE PRESENTATION: We report an 18-year-old female who presenting with progressive virilization, including generalized acne and voice deepening, as well as long-standing menstrual irregularities. Laboratory tests revealed markedly elevated serum testosterone and positive human chorionic gonadotropin (hCG); pelvic imaging demonstrated rapid enlargement of an ovarian mass within a short period. Laparoscopic left adnexectomy with fertility-sparing surgery was performed, and final histopathology confirmed dissecting GB mixed three distinct components: dysgerminoma, trophoblastic tumor, and Leydig cell tumor. Peripheral blood karyotyping yielded a normal 46, XX result. Sex hormone levels and regular menstrual cycles were restored rapidly after complete tumor resection. Multidisciplinary oncology consultation recommended adjuvant chemotherapy given the invasive components. However, the patient declined systemic chemotherapy and opted for strict long-term surveillance instead. CONCLUSION: This case describes a unique mixed dissecting GB in a patient with intact female gonadal development and a normal 46, XX karyotype, combined with a literature review of comparable rare cases. The coexistence of spontaneous virilization, tumor-secreted hCG, and multiple malignant germ cell/stromal components renders this case clinically distinctive. Early surgical intervention, standardized pathological subtyping, karyotype testing, fertility-sparing surgery, and prolonged oncologic follow-up are essential for similar patients.