Bilateral Testicular Epidermoid Cysts in a Man with Klinefelter Syndrome: A Case Report

Abstract

Klinefelter syndrome is a rare chromosomal disorder with at least one extra X chromosome in males resulting in male hypogonadism, androgen deficiency and impaired spermatogenesis. It is associated with an increased risk of certain malignancies; including leukemia, breast cancer, non-Hodgkin's lymphoma and mediastinal germ cell tumors, however, testicular tumors are rare in men with Klinefelter syndrome. Testicular epidermoid cysts are rare benign tumors affecting the testes. We report a case of bilateral testicular epidermoid cysts in a 30-year-old man known to have Klinefelter syndrome. He had an incidental finding of bilateral hard irregular-surfaced testes during routine assessment for testosterone replacement therapy. Biochemical investigation confirmed primary hypogonadism and ultrasound imaging demonstrated bilateral solid testicular masses with no blood flow seen within the lesions. The patient went on to have a right-sided radical orchiectomy with left-side sparing. The histology revealed features in keeping with that of a testicular epidermoid cyst with no evidence of malignancy. The patient was commenced on testosterone replacement therapy. This case emphasizes the importance of routine physical examination of the male external and internal genitalia when considering testosterone replacement therapy.

Keywords: adult teratoma; case report; epidermoid cyst; hypergonadotropic hypogonadism; klinefelter syndrome; multi-disciplinary teams; testicular; testis; testosterone hormone; x chromosome.

Figure 1. Ultrasound scan demonstrating bilateral testicular epidermoid cysts.

(A) Right testicular cyst demonstrating the characteristic “onion ring” appearance. (B) Left testicular cyst demonstrating a mixed/alternating echogenic pattern.

Figure 2. Doppler study of right testicular cyst demonstrating absence of vascular flow.

Figure 3. Histological section of the right epidermoid cyst (haematoxylin & eosin x50) demonstrating compressed normal testicular parenchyma (red arrow), stratified squamous epithelial cell with a granular layer (black arrow), and cyst lumen filled with keratin debris (white arrow).