Department of Pediatric Endocrinology and Diabetology, Children's Hospital, University of Bonn, Venusberg-Campus, Building 30, 53127, Bonn, Germany.
Pediatric Endocrinology and Diabetology, St. Bernward Hospital, Treibestraße 9, 31134, Hildesheim, Germany.
Orphanet J Rare Dis. 2020 Oct 12;15(1):283. doi: 10.1186/s13023-020-01527-0.
Prader-Willi-Syndrome (PWS) is characterized by hypothalamic-pituitary dysfunction. Recent research suggests starting growth hormone-treatment (GHT) as soon as possible. The aim of this study is to analyze possible differences in auxological parameters, carbohydrate and lipid metabolism between two groups of children with PWS that started GHT either during or after their first year of life.
Retrospective longitudinal study of 62 children (31 males) with genetically confirmed PWS. Upon diagnosis all children were offered GHT, some started immediately, others commenced later. Cohort A (n = 21; 11 males) started GHT at 0.3-0.99 yrs. (mean 0.72 yrs) and Cohort B (n = 41; 20 males) commenced GHT at 1.02-2.54 yrs. (mean 1.42 yrs) of age. Fasting morning blood samples and auxological parameters were obtained before the start of therapy and semi-annually thereafter. Differences between the two cohorts were estimated with a linear mixed-effect model.
Mean length/height-SDS differed significantly between the groups [1 yr: A: 0.37 (±0.83) vs B: 0.05 (±0.56); 5 yrs.: A: 0.81 (±0.67) vs B: 0.54 (±0.64); p = 0.012]. No significant differences were found in BMI, lean body mass or body fat. Low-density cholesterol was significantly lower in A than in B [LDL: 1 yr: A: 79 (±20) mg/dl vs B: 90 (±19) mg/dl; 5 yrs.: A: 91(±18) mg/dl vs 104 (±26) mg/dl; p = 0.024]. We found significant differences in the glucose homeostasis between the groups [fasting insulin: p = 0.012; HOMA-IR: p = 0.006; HbA1c: p < 0.001; blood glucose: p = 0.022].
An early start of GHT during the first year of life seems to have a favorable effect on height-SDS and metabolic parameters.
普拉德-威利综合征（PWS）的特征是下丘脑-垂体功能障碍。最近的研究表明，应尽早开始生长激素治疗（GHT）。本研究的目的是分析两组 PWS 儿童在生命第一年开始 GHT 治疗时或之后，在生长参数、碳水化合物和脂质代谢方面可能存在的差异。
对 62 名（31 名男性）经基因确认的 PWS 儿童进行回顾性纵向研究。诊断后，所有儿童均被提供 GHT，有些儿童立即开始治疗，有些则延迟开始。A 组（n=21；11 名男性）在 0.3-0.99 岁（平均 0.72 岁）时开始 GHT，B 组（n=41；20 名男性）在 1.02-2.54 岁（平均 1.42 岁）时开始 GHT。在开始治疗前和此后每半年采集一次空腹晨血样本和生长参数。使用线性混合效应模型估计两组间的差异。
两组间的平均身高/身长 SDS 存在显著差异[1 岁：A 组：0.37（±0.83）vs B 组：0.05（±0.56）；5 岁：A 组：0.81（±0.67）vs B 组：0.54（±0.64）；p=0.012]。BMI、瘦体重或体脂无显著差异。A 组的低密度胆固醇显著低于 B 组[LDL：1 岁：A 组：79（±20）mg/dl vs B 组：90（±19）mg/dl；5 岁：A 组：91（±18）mg/dl vs B 组：104（±26）mg/dl；p=0.024]。两组间的葡萄糖稳态存在显著差异[空腹胰岛素：p=0.012；HOMA-IR：p=0.006；HbA1c：p<0.001；血糖：p=0.022]。
在生命第一年早期开始 GHT 治疗似乎对身高 SDS 和代谢参数有有利影响。
