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