合并2型糖尿病罕见型克氏综合征一例报告

A case report of rare type Klinefelter syndrome with type 2 diabetes mellitus

目的:探讨罕见型克氏综合征伴2型糖尿病的临床特点、诊治方法及漏诊原因。方法:回顾性分析该漏诊患者的临床资料。结果:患者以"糖尿病2年,脚底溃烂6个月"之主诉入院,行足底分泌物细菌培养及血糖水平检测后,诊断为足底慢性溃疡及2型糖尿病,行足底清创植皮修复术。3年后,该患者再次以"足底溃烂3周"之主诉入院,行外周血和口腔黏膜染色体核型分析后,诊断为罕见嵌合型47,XXY/48,XXXY/49,XXXXY克氏综合征合并2型糖尿病,随之调整治疗方案。结论:克氏综合征在临床中通常较难在早期被诊断,而当糖尿病和嵌合型克氏综合征同时出现时常常被忽视,因此进行漏诊原因分析并给予必要的防范措施,有利于该病的早期识别和及时干预。

Objective:To investigate the clinical characteristics,diagnosis and treatment of a case with rare type of Klinefelter syndrome(KS)complicated with type 2 diabetes mellitus,and to analyze the causes of missed diagnosis.Methods:The clinical data of the patient with missed diagnosis of KS were analyzed retrospectively.Results:The patient was admitted to hospital with chief complaints of"diabetes mellitus for 2 years and sole fester for 6 months",and was diagnosed as chronic ulcer of the sole fester and type 2 diabetes mellitus by bacterial culture of plantar secretions and blood glucose level test.Plantar debridement and skin grafting were performed.Three years later,the patient was hospitalized because of the appearance of the symptom of"sole fester for 3 weeks"again.By means of chromosome karyotype analysis of peripheral blood and oral mucosa,the patient was diagnosed as KS which was a rare karyotype mos 47,XXY/48,XXXY/49,XXXXY with type 2 diabetes.The therapeutic approach was adjusted accordingly.Conclusion:In clinical practice,when diabetes mellitus and KS occur concurrently,it is often neglected.Therefore,it is necessary for us to analyze the causes of missed diagnosis and take preventive measures,which benefits the early identification and timely intervention of the disease.