Youlton R
Unidad de Endocrinología y Genética, Departamento de Pediatría, Clínica Las Condes.
Rev Med Chil. 2001 Oct;129(10):1186-90.
Prader-Willi syndrome (PWS) is a neurogenetic disorder caused by the absence or abnormal inactivation of a critical region of the paternal chromosome 15. Clinical manifestations include marked hypotonia at birth, progressive obesity that starts during the second year of life, stunting, hypogonadism and some dysmorphic features. Some of the symptoms and signs can be explained by growth hormone (GH) deficiency. We report two females aged 12 and 13 years old with PWS. Both were very short and obese, showed blunted GH responses to provocative stimuli and had low plasma levels of Insulin Growth Factor-1 (IGF-1). They have been on GH treatment for more than two years, demonstrating a marked growth acceleration, reduction in their fat mass, improvement of their muscular strength and an increase in their IGF-1 levels.
普拉德-威利综合征（PWS）是一种神经遗传性疾病，由父源15号染色体关键区域的缺失或异常失活引起。临床表现包括出生时明显的肌张力减退、出生后第二年开始的进行性肥胖、发育迟缓、性腺功能减退以及一些畸形特征。部分症状和体征可由生长激素（GH）缺乏来解释。我们报告了两名分别为12岁和13岁的患有PWS的女性。两人均身材矮小且肥胖，对刺激试验的GH反应迟钝，血浆胰岛素样生长因子-1（IGF-1）水平较低。她们接受GH治疗已超过两年，表现出明显的生长加速、脂肪量减少、肌肉力量改善以及IGF-1水平升高。
