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Mixed Germ Cell Tumor in Androgen Insensitivity Syndrome: A Case Report

Mary Grace M. Villafuerte, MD and Agnes L. Soriano-Estrella, MD, MHPEd, FPOGS, FPSSTD
Department of Obstetrics and Gynecology, Philippine General Hospital, University of the Philippines-Manila

Androgen insensitivity syndrome (AIS) is a disorder of sexual development characterized by a female phenotype with a 46 XY karyotype. Most patients present with primary amenorrhea; however, 1.1 % of patients present with an inguinal mass. Most commonly, seminoma arising from the gonads are found. This report presents the case of a 15 year-old female looking adolescent who initially presented with an abdominopelvic mass. A diagnosis of AIS was made based on the physical examination findings, endocrine profiling, imaging studies and karyotyping. She underwent cystoscopy, exploratory laparotomy, adhesiolysis, tumor debulking, frozen section, bowel run, repair of serosal tear, Jackson-Pratt drain insertion, bilateral percutaneous nephrostomy under combined spinal and epidural anesthesia. Histopathologic examination of the excised mass revealed a mixed germ cell tumor. This paper will discuss the diagnostic approach as well as the management and prognosis of patients with AIS associated with mixed germ cell tumor.