关键词: 雄激素迟钝综合征, 性腺发育不全, 46, XY, 肿瘤, 性腺组织, 卵巢肿瘤, 闭经

Abstract:

Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive genetic disease, which is caused by the mutations of androgen receptor gene. CAIS is relatively rare, and the cases complicated with gynandroblastoma are more rarer. We report a case that the karyotype is 46, XY, female gender and bilateral ovarian gynandroblastoma. The patient was a female aged 53 years, with primary amenorrhea. She was hospitalized due to dull pain in the lower abdomen. The female's secondary sexual characteristics and vulva development were normal. The levels of estradiol and inhibin B were increased before surgery. Imaging examination revealed a huge pelvic mass (about 16 cm in diameter) and unclear uterus. During the operation, the left ovarian tumor was seen, the appearance of the right adnexa was normal. The right adnexa was connected to a muscular tissue, the size of about 4 cm×2 cm, considered primordial uterus. The left adnexectomy was performed. The intraoperative frozen pathology showed a borderline or low-grade malignant tumor, and further comprehensive staged surgery was performed. The final diagnosis of postoperative pathology was gynandroblastoma. The karyotype analysis of peripheral blood was 46,XY. Such patients need early diagnosis and intervention, to fundamentally prevent the occurrence of gonadal tumors.

Key words: Androgen-insensitivity syndrome, Gonadal dysgenesis, 46,XY, Neoplasms, gonadal tissue, Ovarian neoplasms, Amenorrhea