Complete androgen insensitivity syndrome presenting with bilateral adnexal masses and mixed gonadal histopathology
Abstract
Purpose
Complete androgen insensitivity syndrome (CAIS) is a rare X-linked recessive disorder due to androgenreceptor mutations, characterised by a 46,XY karyotype, female phenotype, and undescended testes. This reportaims to illustrate the clinical management and the rare synchronous pathology of multiple gonadal tumors in a 60-year-old phenotypic female with long-standing CAIS.
Methods
A 60-year-old patient presented following the incidental detection of bilateral adnexal masses. Diagnosticevaluation included imaging (USG/MRI) to assess internal reproductive organs and gonadal morphology, alongsidehormonal analysis (LH, testosterone, and estradiol). A laparoscopic bilateral gonadectomy was performed to managethe suspected neoplasia.
Results
Imaging demonstrated the absence of the uterus and ovaries, confi rming bilateral solid gonadal lesions.Hormonal analysis showed elevated LH with normal testosterone and estradiol levels. Histopathology of the excisedtissues revealed a complex and heterogeneous presentation: the left gonad contained a Sertoli cell tumor, a Leydigcell tumor, and sclerotic seminiferous tubules; the right gonad showed a Sertoli cell adenoma.
Conclusion
This rare synchronous pathology illustrates the signifi cant heterogeneity of neoplasia associated withCAIS. Current evidence supports individualized postpubertal gonadectomy to balance the risk of malignancy againstthe benefi ts of endogenous hormonal production. The fi ndings emphasize that long-term follow-up and tailoredsurgical timing are essential components in the clinical management of CAIS.
