A 38-year-old woman presents with primary amenorrhea and ambiguous external genitalia. Karyotype reveals 46,XY. Pelvic imaging shows a hypoplastic uterus and bilateral gonads in the inguinal canal. Which tumor is she at highest risk of developing in the retained gonads?

• A Dysgerminoma
• B Gonadoblastoma ✓
• C Yolk sac tumor
• D Sertoli-Leydig cell tumor

Explanation

This patient has complete androgen insensitivity syndrome (46,XY karyotype with female phenotype). Retained intra-abdominal or inguinal testes carry a 30-50% lifetime risk of germ cell tumors. Gonadoblastoma is the most common tumor arising in dysgenetic gonads, often overgrowing into dysgerminoma. Prophylactic gonadectomy after puberty is recommended. The other tumors are less strongly associated with this specific condition.

Reference: Robbins and Cotran Pathologic Basis of Disease, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.