摘要目的 评价Klinfelter综合征(KS)患者糖代谢特点,同时探讨KS患者易发生糖代谢紊乱的可能病因.方法 回顾性分析1990年以来在解放军总医院就诊的28例KS患者(包括9例合并糖尿病患者)的一般情况、病史资料和实验室检查结果[性腺激素水平、血脂水平、口服75 g口服葡萄糖耐量试验(OGTT)血糖和胰岛素水平]等临床资料.同时选择18例单纯糖尿病患者与9例合并糖尿病的KS患者按照年龄、体质指数(BMI)、病史进行配对.统计学方法采用完全独立样本t检验及配对样本t检验.结果 (1)KS人群中糖尿病发生率为32.1%(9/28),染色体核型为47,XXY的患者糖尿病发生率为30.7%(8/26),染色体核型为48,XXYY患者糖尿病发生率为50%(1/2);(2)合并糖尿病的KS患者与单纯KS患者相比,年龄大、睾酮水平低[分别为(28±8)比(22±4)岁,(2.0±1.3)比(5.4±4.3)nmol/L,t=3.044、-2.249;均P<0.05],虽然两组基础胰岛素水平和胰岛素分泌曲线下面积未见显著差异,但合并糖尿病的KS患者胰岛素抵抗指数较单纯KS患者明显增大(6.5±3.4比1.2±2.1,t=3.234,P<0.05);(3)KS合并糖尿病患者与单纯糖尿病患者相比,虽然75 g OGTT试验血糖和胰岛素水平一致,但身材更高、体重更重、低密度脂蛋白胆固醇水平更低[分别为(178±12)比(170±6)cm,(91±23)比(80±14)kg,(2.1±0.9)比(2.8±0.5)mmol/L,t=0.750、3.866、-2.681;P<0.05];(4)合并糖尿病的KS患者与单纯KS患者及单纯糖尿病患者相比,雌激素/雄激素比值(E/T)高,差异具有统计学意义(t=2.302、2.748;均P<0.05).结论 (1)KS患者糖尿病发生率明显升高;(2)KS患者易发生糖代谢异常的病因可能包括年龄、睾酮水平低和卵泡刺激素水平高、高E/T值、胰岛素抵抗和X染色体数目异常等.

abstractsObjective To evaluate the characteristics of glucose metabolism and the possible mechanisms of glucose metabolism disorder in patients with Klinefelter's syndrome (KS). Methods This was a retrospective clinical research. The following data were collected and analyzed:the general condition, gonadotropic and gonadal hormone levels, lipid and glucose profiles, glucose and insulin levels after a 75 g oral glucose tolerance test, and homeostasis model assessment of insulin resistance (HOMA-IR) in 19 patients with KS alone, 9 patients with both KS and DM, 18 DM patients without KS;all were hospitalized in PLA General Hospital since 1990. Independent sample t test was used for comparison betneen two groups. Results (1)The incidence of DM in KS patients was 32.1% (9/28); in patients with 47,XXY karyotype and 48,XXYY karyotype the incidence were 30.7%(8/26) and 50%(1/2), respectively;(2)Compared with simple KS patients, patients with both KS and DM was significantly older, while the testosterone (T) level was significantly lower[(28 ± 8)vs (22 ± 4) year,(2.0 ± 1.3) vs (5.4 ± 4.3) nmol/L,t=3.044,-2.249;all P<0.05];Although they had similiar fasting insulin level and area under the curve of insulin, KS patients complicated with DM presented a much higher insulin resistance index(6.5 ± 3.4 vs 1.2 ± 2.1,t=3.234,P<0.05);(3)KS patients complicated with DM were much higher and heavier than simple DM patients[(178±12)vs(170±6) cm,(91 ± 23)vs(80 ± 14)kg,t=0.750,3.866;P<0.05]. The low-density lipoprotein concentration in patients with both KS and DM were lower than that of the patients with KS alone [(2.13±0.93)vs(2.85±0.50) mmol/L, t=-2.681;P<0.05],but their glucose and insulin levels during an oral glucose load were not different between two groups;(4)The estradiol-to-testosterone ratio of KS patients complicated with DM was significantly higher than that of simple KS patients as well as simple DM patients(t=2.302,2.748;P<0.05). Conclusions (1)KS patients tend to develop late-onset DM;(2)The possible risk factors of glucose metabolism disorder in KS patients are age, testosterone level, insulin resistance, high estradiol-to-testosterone ratio and abnormalities of X chromosome.