Klinefelter综合征1例并文献复习  

Klinefelter syndrome: A case report and literature review

作　　者：马芙蓉[1] 白晋瑜 徐翔宇[1] 陈慧[1] Ma Furong;Bai Jinyu;Xu Xiangyu;Chen Hui(Department of Endocrinology,Lanzhou University Second Hospital,Lanzhou 730030,China)

机构地区：[1]兰州大学第二医院内分泌代谢科,甘肃兰州730030

出　　处：《临床荟萃》2023年第6期537-540,共4页Clinical Focus

基　　金：甘肃省科技计划项目pYAP1在甲状腺乳头状癌中的表达及临床意义(18JR3RA312)。

摘　　要：目的探讨Klinefelter综合征的临床特点。方法回顾性分析兰州大学第二医院收治的1例Klinefelter综合征患者的病例资料,并复习相关文献。结果患者为青年男性,双侧乳房增大伴疼痛3年。入院后查体发现男性第二性征发育不全,睾丸硬小,卵泡刺激素、黄体生成素水平显著升高,睾酮水平明显下降,行相关检查后诊断为高促性腺激素性性腺功能减退症,进一步完善染色体核型分析后明确诊断为Klinefelter综合征。给予睾酮替代治疗及雌激素受体拮抗剂治疗后乳腺发育明显缓解。结论Klinefelter综合征早期诊断率低。早期诊断、及时的睾酮替代治疗对提高患者生活质量有积极影响。临床医师需要加强对Klinefelter综合征的认识。Objective To investigate the clinical features of Klinefelter syndrome(KS).Methods A case of KS admitted to Lanzhou University Second Hospital was analyzed retrospectively,and the relevant literatures were reviewed.Results A young male presented with 3 years of bilateral breast enlargement and pain.After admission,the physical examination found that the male secondary sexual characteristics were hypoplasia,and the testes were small and hard.Follicle stimulating hormone and luteinizing hormone levels significantly increased,and the testosterone level significantly decreased.The patient was diagnosed as hypergonadotropic hypogonadism by relevant examinations,and furthermore,he was precisely diagnosed as KS by chromosome karyotype analysis.After testosterone replacement therapy and estrogen receptor antagonist treatment,breast development was significantly alleviated.Conclusion The early diagnosis rate of KS is low.Early diagnosis and timely testosterone replacement therapy have a positive impact on improving the quality of life of patients with KS.Clinicians should strengthen their understanding of KS.

关 键 词：KLINEFELTER综合征 高促性腺激素性性腺功能减退症 男性乳腺发育 

分 类 号：R691.1[医药卫生—泌尿科学]