Androgen Insensitivity Syndrome with Gynandroblastoma and Vulvar Leiomyoma

Abstract

This study aimed to describe a rare case of androgen insensitivity syndrome (AIS) in association with gynandroblastoma and vulvar leiomyomata. The patient was a 64-year-old phenotypically female person with 46 XY chromosomal karyotypes who presented with a chief complaint of abdominal distension of 1-month duration. She had 2 vulvar masses for more than 20 years and had experienced life-long (untreated) amenorrhea. History and physical examination findings showed the patient to be 175 cm in height, with normal breast development, and a lack of pubic or axillary hair. Serum levels were as follows: testosterone, 1,980 ng/dL; estradiol, 1,380.8 pg/mL. In combination with clinical findings, a diagnosis of complete AIS was made. The patient subsequently underwent surgery, during which the bilateral vulvar masses and the rudimentary uterus, right sex gland, and left side of the tumor were resected. Histological examination of the tumor revealed a mass composed primarily of juvenile-type granulosa cells, admixed with a Sertoli cell component that comprised less than 50% of the tumor. The right side of the gonad had an ovarian-like cortex and was considered to be an undeveloped ovary. The left and right side of the vulvar masses were diagnosed with leiomyomas. Patients with AIS should be monitored closely because these patients may also experience gonadal tumors. When confronted with gynandroblastoma, close attention should be paid to the patient's endocrinologic status, and comprehensive endocrinologic analyses should be conducted to make correct treatment decisions.