Abstract:

Objective To analyze the diagnostic and therapeutic characteristics of androgen insensitivity syndrome (AIS). Methods Clinical data of a patient treated in the Minzu Hospital of Guangxi Zhuang Autonomous Region in 2020, who was diagnosed as AIS combined with choriocarcinoma and human chorionic gonadotropin (HCG)-induced hyperthyroidism were retrospectively analyzed. The diagnostic and therapeutic process were summarized. Results The patient was characterized by a female phenotype and 46, XY karyotype, who had higher testosterone levels than normal men. The patient was combined with choriocarcinoma and HCG-induced hyperthyroidism, and managed by the surgical resection of the gonad and primary tumor. Conclusion Chromosomal analysis should be provided to female gender patients with primary amenorrhea and high testosterone levels. Genetic testing is necessary once disease-associated genes are detectable, thus providing early diagnosis and early treatment, and preventing gonad tumours.

Key words: gonadal dysgenesis, 46, xy, complete androgen insensitivity, HCG- associated - hyperthyroidism