Anna Marie Velicaria
Gynecologist , East Avenue Medical Center
Philippines
Abstract Title:
A Case of Androgen Insensitivity Syndrome with Malignant Germ Cell Tumor in a 67- Year-Old Woman
Biography:
Dr. Anna Marie G. Velicaria is a graduate of Doctor of Medicine from Far Eastern University
Research Interests:
Androgen Insensitivity Syndrome (AIS) is an X-linked recessive disorder characterized by feminization of external genitalia in individuals with a 46,XY karyotype. Its prevalence ranges from 1 in 20,000 to 1 in 60,000 genetic males, with only seven cases reported nationally. This paper presents a case of 67-year- old nulligravid widow with a rapidly enlarging abdominal mass of 1- month duration, primary amenorrhea, primary infertility, a blind vaginal pouch, and absent cervix and uterus. Initial diagnosis favored Mayer-Rokitansky-Küster-Hauser syndrome. The patient underwent exploratory laparotomy with bilateral gonadectomy and staging. Intraoperatively, a solid gonadal mass suspicious for malignancy was observed. Histopathology and immunohistochemistry confirmed a gonadal germ cell tumor consistent with dysgerminoma/seminoma. Karyotyping revealed a 46,XY genotype, establishing AIS. The patient received adjuvant chemotherapy. This case emphasizes multidisciplinary management with Urology, Medical Oncology, and Psychiatry, with focus on improving the quality of life of the patient. This case underscores the rare late presentation of AIS with malignant transformation, emphasizing the importance of a high index of suspicion, early diagnosis, and collaborative care. The role as physicians goes far beyond diagnosis and treatment. It is essential to address emotional, psychological, and social needs of the patient. Quality of life is the real essence of compassionate care.
