Prader-Willi综合征患儿下丘脑-垂体-靶腺轴功能及代谢的改变  

Hypothalamic-pituitary-gland axis function changes and metabolic manifestations of children with Prader-Willi syndrome

作　　者：程向登 梁爽[1] 胡艳艳[1] 乔玉[1] 王凤雪[1] 李桂梅[1] 

机构地区：[1]山东大学附属省立医院儿科,山东济南250021

出　　处：《山东大学学报（医学版）》2017年第3期107-111,共5页Journal of Shandong University:Health Sciences

基　　金：山东省科学技术发展计划(2013GSF11817)

摘　　要：目的探讨Prader-Willi综合征(PWS)患儿的下丘脑-垂体-靶腺轴及代谢特点。方法选取2012年9月至2016年6月山东大学附属省立医院儿科内分泌门诊及病房经基因检测确诊的PWS患儿17例(PWS组),同期健康查体儿童35例(正常对照组),检测两组垂体-靶腺激素水平及相关代谢指标,运用t检验、Mann-Whitney U检验等对数据进行分析。PWS组14例行生长激素刺激试验和促性腺激素释放激素刺激试验。结果 PWS组身高标准差积分(Ht SDS)值为-0.47±1.20,体质量均大于中国同性别同年龄第90百分位,体质量指数(BMI)为(32.7±7.4)kg/m^2,均大于中国同性别同年龄第97百分位。PWS组空腹生长激素、胰岛素样生长因子1(IGF-1)、游离甲状腺素均小于正常对照组(P<0.05)。PWS组1例游离甲状腺素<11.5 pmol/L。PWS组生长激素刺激试验示生长激素缺乏。促性腺激素释放激素刺激试验示12例促黄体生长素峰值<2.8 m IU/mL。PWS组总胆固醇、低密度脂蛋白胆固醇、甘油三酯、载脂蛋白B、糖化血红蛋白、稳态模型评估的胰岛素抵抗指数(HOMA-IR)、胰岛素、C肽均大于正常对照组(P<0.05)。2例诊断为2型糖尿病。结论 PWS患儿存在生长激素缺乏、糖代谢及脂代谢异常,部分PWS患儿表现为低促性腺激素性性功能低下和中枢性甲状腺功能低下,早期监测有助于早期诊断和治疗。Objective To investigate the changes of hypothalamic-pituitary-gland axis function and metabolic manifestations of children with Prader-Willi syndrome（PWS）.Methods A total of 17 PWS children diagnosed during Sept.2012 and June 2016 were selected as the PWS group,and 35 age-and-sex-matched healthy children served as the control group.The differences of pituitary-gland hormone levels and related metabolic indexes were analyzed with t-test and M ann-Whitney U test.The growth hormone stimulation test and the stimulation of GnRHa were performed in the PWS group.Results In the PWS group,the height-SDS was-0.47±1.20;the weight was higher than the 90 th percentile of normal children of the same gender and age;the BM I was 32.7±7.4 kg/m^2,which was higher than 97 th percentile of normal children of the same gender and age.Compared with the control group,PWS children had lower serum levels of growth hormone,insulin-like growth factor1（IGF-1） and free thyroxine（P〈0.05）.The free thyroxine in 1 child was11.5pmol/L.Results of growth hormone stimulation test showed growth hormone deficiency.After the stimulation of GnRHa,the peak of luteinizing hormone in 12 children was2.8 m IU/mL.The levels of total cholesterol,low-density lipoprotein cholesterol,triglyceride,apolipoprotein B,glycosylated hemoglobin,HOM A-IR,insulin and C-peptide in the PWS group were higher than those in the control group（P〈0.05）.Two children had type 2 diabetesmellitus.Conclusion Growth hormone deficiency,glucose and lipid metabolism disorder are observed in PWS children.Some PWS children showhypogonadotropic hypogonadism and central hypothyroidism.Early screening can help the early diagnosis and treatment.

关 键 词：PRADER-WILLI综合征 下丘脑-垂体-靶腺轴 生长激素缺乏 糖代谢 脂代谢1 

分 类 号：R725.8[医药卫生—儿科]