Complete androgen insensitivity syndrome with cryptorchid sertoli cell tumor: a case report and literature review

Objective: Complete androgen insensitivity syndrome (CAIS) is a 46,XY disorder of sex development caused by mutations in the androgen receptor (AR) gene. This article reports a case of a patient clinically diagnosed with CAIS complicated by a cryptorchid primary borderline Sertoli cell tumor, who presented to Minda Hospital of Hubei Minzu University in 2024. The patient exhibited a female phenotype and presented with primary amenorrhea. The diagnosis was established based on clinical manifestations, endocrine evaluation, imaging studies, and chromosomal karyotype analysis. The patient underwent laparoscopic bilateral gonadectomy, followed by postoperative estrogen replacement therapy. Postoperative histopathological examination revealed a cryptorchid borderline Sertoli cell tumor. The clinical presentation of CAIS is insidious, which may lead to delayed diagnosis. The identification of a Sertoli cell tumor in this case highlights that the risk of gonadal neoplasia should not be overlooked. Strengthening early recognition, appropriately timing gonadectomy, and ensuring long-term follow-up are of considerable importance for patient management.