2024 年第 9 期 第 19 卷

克莱恩费尔特综合征合并抗黑色素瘤分化相关基因5抗体阳性皮肌炎1例报道

Klinefelter syndrome complicated with anti-melanoma differentiation-associated gene 5 antibody positive dermatomyositis: a case report

作者：陈欣1陈鹏2

英文作者：Chen Xin1， Chen Peng2

单位：1广州中医药大学第一临床医学院，广州510405；2广州中医药大学第一附属医院五骨科，广州510405

英文单位：1The First Clinical Medical College of Guangzhou University of Chinese Medicine， Guangzhou 510405， China; 2Fifth Department of Orthopedics the First Affiliated Hospital of Guangzhou University of Chinese Medicine Guangzhou 510405 China

关键词：克莱恩费尔特综合征；抗黑色素瘤分化相关基因5抗体；皮肌炎

英文关键词：Klinefeltersyndrome；Anti-melanomadifferentiation-associatedgene5antibody；Dermatomyositis

• 摘要：

• 克莱恩费尔特综合征（KS）是一种男性常见的性染色体异常疾病，是先天性男性性腺功能减退症的最常见原因。本文报道1例KS合并抗黑色素瘤分化相关基因5（MDA5）抗体阳性皮肌炎患者。该患者为44岁男性，临床表现为双侧肩关节、膝关节肿痛伴四肢乏力，双眼眶周围紫红色皮疹，阴毛稀疏，阴茎短小，无喉结，睾酮水平低，卵泡刺激素和黄体生成素水平升高，血清乳酸脱氢酶升高，抗MDA5抗体阳性，染色体核型为47，XXY，诊断为KS合并抗MDA5抗体阳性皮肌炎，同时该患者合并双侧股骨头坏死、骨质疏松症。本文对患者的诊疗过程进行回顾，着重探讨该类患者潜在的骨代谢疾病风险，提醒首诊医师预防及监测骨代谢疾病的发生，做到“未病先防、已病防变”，这对提高患者生活质量至关重要。

• Klinefelter syndrome (KS) is a common sex chromosome abnormality in males and the most common cause of congenital male hypogonadism. This paper reports a case of KS combined with dermatomyositis with positive anti-melanoma differentiation-associated gene 5 (MDA5) antibody. The patient was a 44-year-old male who presented with bilateral shoulder and knee joint swelling and pain with limb weakness, bilateral periorbital purple rash, sparse pubic hair, short penis, no laryngeal, low testosterone level, elevated follicle-stimulating hormone and luteinizing hormone levels, elevated serum lactate dehydrogenase, positive anti-MDA5 antibody, and a chromosome karyotype of 47, XXY. The patient was diagnosed with KS combined with dermatomyositis with positive anti-MDA5 antibody, and had bilateral femoral head necrosis and osteoporosis. This article reviews the diagnosis and treatment process of the patients, focuses on the potential risk of bone metabolic diseases in these patients, and reminds the first doctor to prevent and monitor the occurrence of bone metabolic diseases, so as to prevent disease before disease and prevent disease from becoming worse, which is very important to improve the quality of life of patients.