Germ cell tumour of an undescended testis diagnosed in a patient with bilateral cryptorchidism presenting both male and female primary sex characteristics

Abstract

Introduction. Testicular germ cell tumor (GCT) is a rare pathology that accounts for about 1% of all malignant neoplasms in men, while cryptorchidism is one of the main risk factors. We present a clinical case of a GCT of an undescended testicle in patient with bilateral cryptorchidism and male to female sexual characteristics.Objective. To present a rare clinical case of testicular GCT in a patient with disorder of sex development (DSD).Clinical case. A 32-year-old patient with a history of bilateral cryptorchidism with a large neoplasm of the right undescended testis was detected during examination at the Department of Andrology and Oncourology No. 6 of the Pavlov State Medical University. Based on MRI scans, a cavity formation interpreted as an enlarged left seminal vesicle was fixed to the lower pole of the right testicle. Bilateral removal of the left and right testicles (tumour-affected) was performed. The seminal duct was detected from the lower pole of the formation, passing into a blindly ending soft tissue cavity formation (in shape and structure resembling a uterus) — its removal was performed. Histological examination showed that the neoplasm was a typical seminoma of the right testicle, pT2. The soft tissue cavity was represented by a rudimentary uterus with fallopian tubes. Adjuvant chemotherapy was performed.Conclusion. We demonstrate a rare clinical case of a GCT of the undescended testis in a patient with bilateral cryptorchidism, DSD (46, XY), and Müllerian duct persistence syndrome. These nosologies require early diagnosis and treatment.

Keywords

• cryptorchidism
• germ cell tumor
• seminoma
• disorders of sex development
• pseudohermaphroditism
• testicular cancer
• persistent müllerian duct syndrome