Prader-Willi综合征患儿下丘脑-垂体-靶腺轴功能及代谢的改变

发布时间：2018-05-18 16:01

本文选题：Prader-Willi综合征 + 下丘脑-垂体-靶腺轴　；参考：《山东大学学报(医学版)》2017年03期

【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(P0.05)。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(P0.05)。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。
[Abstract]:Objective to study the hypothalamus-pituitary-target gland axis and metabolic characteristics in children with Prader-Willi syndrome. Methods from September 2012 to June 2016, 17 children with PWS confirmed by gene test were selected from Pediatric Endocrinology Clinic and Ward of Provincial Hospital affiliated to Shandong University, and 35 healthy children (normal control group, two groups) were tested. Pituitary target gland hormone level and related metabolic indexes, T test and Mann-Whitney U test were used to analyze the data. 14 cases of PWS group were treated with growth hormone stimulation test and gonadotropin releasing hormone stimulating test. Results the mean height standard deviation score of the PWS group was -0.47 卤1.20, the body weight was higher than the 90th percentile of the same age in China, and the body mass index was 32.7 卤7.4 kg / m, which was higher than the fasting growth hormone of the 97th percentile of the same sex and the same age in China. The levels of IGF-1and free thyroxine in insulin-like growth factor (IGF-1) group were lower than that in the control group (P 0.05). The growth hormone stimulation test of free thyroxine 11.5 pmol/L.PWS group showed that the growth hormone was deficient. The gonadotropin releasing hormone stimulating test showed that 12 cases of luteinizing growth hormone peak 2.8m IU/mL.PWS group had total cholesterol, low density lipoprotein cholesterol, triglyceride, apolipoprotein B, glycosylated hemoglobin, The insulin resistance index (HOMA-IRN) and insulin C peptide were significantly higher than those in the normal control group (P 0.05N). 2 cases of type 2 diabetes mellitus were diagnosed by the steady-state model. Conclusion there are deficiency of growth hormone, abnormal metabolism of glucose and lipid in children with PWS, and hypogonadotropin hypogonadism and central hypothyroidism in some PWS children. Early monitoring is helpful for early diagnosis and treatment.
【作者单位】：山东大学附属省立医院儿科;
【基金】：山东省科学技术发展计划(2013GSF11817)
【分类号】：R725.8

【相似文献】