Complete androgen insensitivity syndrome with intra-abdominal seminoma in a phenotypic female: A rare presentation

Androgen insensitivity syndrome (AIS) is a rare, X-linked recessive disorder which causes alterations in androgen receptor gene leading to hormone resistance, which may present clinically under three phenotypes: complete AIS (CAIS), partial AIS, or mild AIS. The symptoms range from phenotypically normal males with impaired spermatogenesis to phenotypically normal women with primary amenorrhea. We report a case of a 35-year-old woman who was diagnosed with CAIS and presented with malignant transformation of the undescended testis. The histopathology confirmed the presence of seminoma. In this case report, we reviewed the literature which describes the biochemical and endocrinological abnormalities leading to the syndrome. It also highlights the potential for malignant changes of the undescended testes, diagnosis, and therapeutic management.

Automated summary

Androgen insensitivity syndrome (AIS) is a rare X-linked recessive disorder that causes hormone resistance due to alterations in the androgen receptor gene, resulting in three main phenotypes: complete AIS, partial AIS, or mild AIS. Symptoms vary from impaired spermatogenesis in phenotypically normal males to primary amenorrhea in phenotypically normal women. Treatment focuses on the risk of malignant transformation, accurate diagnosis, and effective management.