39例Klinefelter综合征患者的糖尿病发生率和临床特点

Incidence of diabetes in 39 Klinefelter syndrome patients and their clinical features

目的评价Klirefelter综合征人群中MS、IGT和DM的发生率以及临床特点。方法采用横断面研究,对长期随诊的39例Klinefelter综合征患者的代谢状态、血糖水平、性激素水平进行总结,分析此特殊人群发生DM的可能高危因素,及其与核型之间的关系。结果 (1)初诊时,Klinefelter综合征人群的MS发生率为30.8%,在睾酮替代治疗后(中位时间4年)发生率增加到38.5%。(2)Klinefelter综合征人群DM发生率为20.5%(8/39),有4例在睾酮替代治疗前已经诊断为DM,另外4例在睾酮替代治疗的随访中确诊为DM。发生DM的年龄为(27.1±4.5)岁(20～55岁),有4例(50%)患者需要胰岛素治疗,8例中有1例伴急性胰腺炎,有2例伴高TG血症。(3)Klinefelter综合征人群IGT发生率为7.7%。(4)长期随访发现,有9例患者体重明显增加,其中有2例进展为DM。结论 (1)Klinefelter综合征患者的MS和DM发生率明显升高。(2)该人群DM发病年龄轻,血糖升高明显,多数需用胰岛素控制血糖。(3)染色体异常、睾酮水平降低、体重进行性增加、急性胰腺炎、高TG血症,是该人群糖代谢异常的重要危险因素。

Objective To evaluate the incidence of metabolic syndrome, impaired glucose tolerance and diabetes in patients with Klinefelter syndrome. To describe the clinical features of these patients with diabetes. Methods This retrospective cross-sectional research included 39 patients diagnosed as Klinefelter syndrome. Their metabolic parameters, lipid profiles and sex hormones were compared before and after testosterone replacement therapy. The relationship between diabetes and the possible high risk factors, such as obesity and karyotype, were further investigated. Results The incidence of metabolic syndrome was 30. 8% before testosterone replacement therapy. After follow up for 1-30 years （median 4 years）, the incidence increased to 38. 5%. The ineidences of diabetes and impaired glucose tolerance were 20. 5% and 7.7% respectively. During the follow up, the body weights of 9 patients were significantly increased. Two of them developed diabetes. The average age at onset of diabetes was （27.1±4. 5） years old （20-55 years）. Among them, four patients required insulin therapy. Four patients had developed diabetes before testosterone replacement therapy. Among the diabetic patients, one suffered from an acute pancreatitis and two had significantly elevated levels of triglyceride. Conclusions （1） The incidences of metabolic syndrome and diabetes are significantly increased in population of Klinefelter syndrome. （2） Young-onset, high blood glucose and requiring insulin therapy are the main clinical features of these diabetic patients. （3） Abnormalities in karyotype, low level of testosterone, increased body weight, acute pancreatitis and greatly increased triglyceride are the main risk factors for development of diabetes.