Centre for Paediatric Endocrinology Zurich, Zurich 8006, Switzerland.
Department of Paediatrics, Radboud University Medical Centre, Nijmegen 6525, Netherlands.
J Clin Endocrinol Metab. 2023 Aug 18;108(9):2299-2306. doi: 10.1210/clinem/dgad101.
Prader-Labhart-Willi syndrome (PWS) is a rare genetic disorder characterized by intellectual disability, behavioural problems, and hypothalamic dysfunction combined with specific dysmorphisms. In PWS, growth hormone treatment is given primarily to improve body composition, yet lean body mass (LBM) does not normalize. Male hypogonadism is frequent in PWS and becomes evident during puberty. While LBM increases in normal boys during puberty, it is not known whether LBM and muscle mass concomitantly increase in PWS during spontaneous or induced puberty.
To describe the peripubertal increment in muscle mass in boys with PWS undergoing growth hormone treatment.
Single-center, retrospective descriptive study, using data from 4 years before until 4 years after onset of puberty.
Primary referral centre for PWS.
Thirteen boys diagnosed with genetically proven PWS. The mean age at onset of puberty was 12.3 years; the mean observation period before (after) onset of puberty was 2.9 (3.1) years.
Puberty was induced upon pubertal arrest. All boys received internationally standardized growth hormone treatment.
Lean mass index (LMI) determined by dual energy X-ray absorptiometry.
LMI increased by 0.28 kg/m2 per year before puberty and by 0.74 kg/m2 per year after the onset of puberty. The time before puberty explained less than 10% of the variation in LMI, whereas the time after puberty onset explained about 25%.
Boys with PWS showed a recognizable increment in LMI during both spontaneous and induced puberty compared with the prepubertal phase, which was within the trajectories of normal boys. Therefore, timely testosterone substitution in the absence or at arrest of puberty during growth hormone treatment is important to optimize peak LBM in PWS.
普拉德-威利综合征（PWS）是一种罕见的遗传疾病，其特征为智力障碍、行为问题和下丘脑功能障碍，同时伴有特定的畸形。在 PWS 中，生长激素治疗主要用于改善身体成分，但瘦体重（LBM）不会正常化。男性性腺功能减退在 PWS 中很常见，并在青春期表现出来。虽然正常男孩在青春期时 LBM 增加，但尚不清楚 PWS 患者在自发或诱导性青春期期间 LBM 和肌肉质量是否同时增加。
描述接受生长激素治疗的 PWS 男孩在青春期期间肌肉质量的增加情况。
单中心、回顾性描述性研究，使用青春期前 4 年和青春期后 4 年的数据。
PWS 的主要转诊中心。
13 名被诊断为遗传性 PWS 的男孩。青春期开始的平均年龄为 12.3 岁；青春期前（后）的平均观察期为 2.9（3.1）年。
在青春期停滞时诱导青春期。所有男孩均接受国际标准化的生长激素治疗。
双能 X 射线吸收法测定的瘦体重指数（LMI）。
青春期前 LMI 每年增加 0.28 kg/m2，青春期后每年增加 0.74 kg/m2。青春期前的时间只能解释 LMI 变化的不到 10%，而青春期后开始的时间可以解释约 25%。
与青春期前相比，PWS 男孩在自发和诱导性青春期期间 LMI 有明显增加，与正常男孩的轨迹一致。因此，在生长激素治疗中，无论是在青春期缺乏或停滞时，及时进行睾酮替代治疗对于优化 PWS 中的峰值 LBM 非常重要。
