Wu Mo-Ling, Li Juan, Ding Yu, Chen Yao, Chang Guo-Ying, Wang Xiu-Min, Wang Jian, Shen Yi-Ping
Department of Endocrinology and Metabolism, Shanghai Children's Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China.
Zhongguo Dang Dai Er Ke Za Zhi. 2017 May;19(5):514-518. doi: 10.7499/j.issn.1008-8830.2017.05.007.
This article reports the clinical features and endocrine and metabolic features of 4 children with Prader-Willi syndrome (PWS). All the patients were female and aged 6-12 years at diagnosis. All of them had clinical manifestations of obesity, unusual facies, developmental retardation, and intellectual disability. Genetic detection showed that 2 patients had paternal deletion of the 15q11.2-q13 region, one patient had maternal autodiploid in the 15q11.2-q13 region, and one patient had no abnormality in the 15q11.2-q13 region. All patients had varying degrees of endocrine and metabolic disorders: 2 patients had short stature, among whom one had delayed appearance of secondary sex characteristics and the other one had type 2 diabetes; one patient had insulin resistance and no mammary gland development; one patient had a body height of P-P and precocious puberty. Patients with PWS have various endocrine disorders, so long-term endocrine follow-up and management is very important.
本文报告了4例普拉德-威利综合征（PWS）患儿的临床特征以及内分泌和代谢特征。所有患者均为女性，诊断时年龄为6至12岁。她们均有肥胖、特殊面容、发育迟缓及智力障碍的临床表现。基因检测显示，2例患者存在15q11.2-q13区域的父源缺失，1例患者在15q11.2-q13区域存在母源二倍体，1例患者在15q11.2-q13区域无异常。所有患者均有不同程度的内分泌和代谢紊乱：2例患者身材矮小，其中1例第二性征出现延迟，另1例患有2型糖尿病；1例患者有胰岛素抵抗且乳腺未发育；1例患者身高处于P-P且性早熟。PWS患者存在多种内分泌紊乱，因此长期的内分泌随访及管理非常重要。
