Atypical presentation and management dilemma of mixed gonadal dysgenesis

Abstract

To describe a case of 45,X/46,XY mixed gonadal dysgenesis complicated by malignancy with possible metastasis. Case report. University hospital. A 15-year-old female with primary amenorrhea, short stature, and a vaginal septum. Resection of transverse vaginal septum and laparoscopic bilateral gonadectomy. The patient had dysgerminoma arising from gonadoblastoma in the left gonad and gonadoblastoma in the right gonad. No normal gonadal tissue could be identified. Postoperative computed tomography scan results were suspicious for lung metastases, but the patient opted for conservative management without chemotherapy. Mixed gonadal dysgenesis involves inherent malignancy risk and complex psychosocial issues, which necessitate a multidisciplinary approach to diagnosis and treatment.