Lee Hae Sang, Hwang Jin Soon
J Pediatr Endocrinol Metab. 2013;26(11-12):1201-4. doi: 10.1515/jpem-2013-0040.
Prader-Willi syndrome (PWS) is characterized by infantile lethargy and hypotonia causing poor feeding and failure to thrive, childhood obesity, short stature, and hypogonadism. The complex phenotype is most probably caused by a hypothalamic dysfunction that is responsible for the hormonal dysfunction. The resulting hypogonadism in PWS causes incomplete, delayed, and sometimes disordered pubertal development. Precocious puberty is very rare in PWS. We report the case of a girl with PWS who was diagnosed with idiopathic precocious puberty and was treated with gonadotropin-releasing hormone analog.
普拉德-威利综合征(PWS)的特征为婴儿期嗜睡和肌张力减退,导致喂养困难和生长发育迟缓、儿童期肥胖、身材矮小以及性腺功能减退。这种复杂的表型很可能是由导致激素功能障碍的下丘脑功能障碍引起的。PWS患者由此产生的性腺功能减退会导致青春期发育不完全、延迟,有时还会紊乱。性早熟在PWS中非常罕见。我们报告了一例患有PWS的女孩,她被诊断为特发性性早熟,并接受了促性腺激素释放激素类似物治疗。