Win Mya L, Kaur Devinder, Oyibo Samson O, Rajkanna Jeyanthy, Sagi Satyanarayana V
Diabetes and Endocrinology, Peterborough City Hospital, Peterborough, GBR.
Cureus. 2020 Dec 1;12(12):e11834. doi: 10.7759/cureus.11834.
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.
克兰费尔特综合征是一种罕见的染色体疾病,男性患者至少有一条额外的X染色体,导致男性性腺功能减退、雄激素缺乏和精子发生受损。它与某些恶性肿瘤的风险增加有关,包括白血病、乳腺癌、非霍奇金淋巴瘤和纵隔生殖细胞肿瘤,然而,克兰费尔特综合征患者的睾丸肿瘤很少见。睾丸表皮样囊肿是一种罕见的影响睾丸的良性肿瘤。我们报告一例30岁已知患有克兰费尔特综合征的男性双侧睾丸表皮样囊肿病例。他在接受睾酮替代治疗的常规评估中偶然发现双侧睾丸质地硬、表面不规则。生化检查证实为原发性性腺功能减退,超声成像显示双侧睾丸实性肿块,病变内未见血流信号。患者接受了右侧根治性睾丸切除术,保留了左侧睾丸。组织学检查显示符合睾丸表皮样囊肿的特征,无恶性证据。患者开始接受睾酮替代治疗。该病例强调了在考虑睾酮替代治疗时对男性内外生殖器进行常规体格检查的重要性。