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山东大学学报（医学版） ›› 2017, Vol. 55 ›› Issue (3): 107-111.doi: 10.6040/j.issn.1671-7554.0.2016.1442

• 临床医学 • 上一篇    下一篇

Prader-Willi综合征患儿下丘脑-垂体-靶腺轴功能及代谢的改变

程向登,梁爽,胡艳艳,乔玉,王凤雪,李桂梅   

  1. 山东大学附属省立医院儿科, 山东 济南 250021
  • 收稿日期:2016-11-04 出版日期:2017-03-10 发布日期:2017-03-10
  • 通讯作者: 李桂梅. E-mail:liguimei2013@126.com E-mail:liguimei2013@126.com
  • 基金资助:
    山东省科学技术发展计划(2013GSF11817)

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

CHENG Xiangdeng, LIANG Shuang, HU Yanyan, QIAO Yu, WANG Fengxue, LI Guimei   

  1. Department of Pediatrics, Shandong Provincial Hospital Affiliated to Shandong University, Jinan 250021, Shandong, China
  • Received:2016-11-04 Online:2017-03-10 Published:2017-03-10

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(HtSDS)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/m2,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 mIU/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。

关键词: Prader-Willi综合征, 下丘脑-垂体-靶腺轴, 脂代谢1, 糖代谢, 生长激素缺乏

Abstract: 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 Mann-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 90th percentile of normal children of the same gender and age; the BMI was 32.7±7.4 kg/m2, which was higher than 97th 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 was <11.5pmol/L. Results of growth hormone stimulation test showed growth hormone deficiency. After the stimulation of GnRHa, the peak of luteinizing hormone in 12 children was <2.8 mIU/mL. The levels of total cholesterol, low-density lipoprotein cholesterol, triglyceride, apolipoprotein B, glycosylated hemoglobin, HOMA-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 diabetes 山 东 大 学 学 报 (医 学 版)55卷3期 -程向登,等.Prader-Willi综合征患儿下丘脑-垂体-靶腺轴功能及代谢的改变 \=-mellitus. Conclusion Growth hormone deficiency, glucose and lipid metabolism disorder are observed in PWS children. Some PWS children show hypogonadotropic hypogonadism and central hypothyroidism. Early screening can help the early diagnosis and treatment.

Key words: Prader-Willi syndrome, Hypothalamic-pituitary-gland axis, Lipid metabolism, Glucose metabolism, Growth hormone deficiency

中图分类号: 

  • R725.8
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