Freire Maria José, Nunes Pedro, Sousa Luà S, Figueiredo Arnaldo
Serviço de Urologia e Transplantação Renal, Centro Hospitalar e Universitário de Coimbra, Coimbra, Portugal.
Faculdade de Medicina, Universidade de Coimbra, Coimbra, Portugal.
BMJ Case Rep. 2017 Jul 14;2017:bcr-2017-219557. doi: 10.1136/bcr-2017-219557.
Carney complex is a rare genetic disease characterised by a complex of myxomas, spotty pigmentation and endocrine overactivity. At diagnosis, about one-third of male patients presents with testicular tumours, namely large cell calcifying Sertoli cell tumours, which are often multicentric and/or bilateral and have a low malignant potential. Although radical orchiectomy is the gold standard for the treatment of testicular neoplasms, a conservative approach with partial orchiectomy or tumourectomy may be the best treatment option for these patients, allowing the preservation of endocrine function, fertility and body image. We present a case of a 19-year-old man with a known history of Carney complex with early identification of a small testicular tumour treated with organ-sparing surgery.
卡尼综合征是一种罕见的遗传性疾病，其特征为黏液瘤、斑点状色素沉着和内分泌功能亢进。在诊断时，约三分之一的男性患者会出现睾丸肿瘤，即大细胞钙化性支持细胞瘤，这些肿瘤通常为多中心性和/或双侧性，恶性潜能较低。尽管根治性睾丸切除术是治疗睾丸肿瘤的金标准，但对于这些患者，采用部分睾丸切除术或肿瘤切除术的保守方法可能是最佳治疗选择，这样可以保留内分泌功能、生育能力和身体形象。我们报告一例19岁男性患者，其有卡尼综合征病史，早期发现一个小的睾丸肿瘤并接受了保留器官手术治疗。
