成人期确诊的Prader-Willi综合征一例病例报告  

Prader-Willi syndrome diagnosed in adulthood: A case report

作　　者：胡慧峥 史晓光[1] 李静[1] 单忠艳[1] Hu Huizheng;Shi Xiaoguang;Li Jing;Shan Zhongyan(Department of Endocrinology and Metabolism,the First Affiliated Hospital of China Medical University,Shenyang 110001,China)

机构地区：[1]中国医科大学附属第一医院内分泌代谢科,沈阳110001

出　　处：《中华内分泌代谢杂志》2023年第1期60-65,共6页Chinese Journal of Endocrinology and Metabolism

基　　金：国家自然科学基金项目(81771741)。

摘　　要：本文报道1例成人期确诊的Prader-Willi综合征(PWS)病例。PWS作为一种罕见的遗传性疾病,国内外已报道病例大多数确诊于婴幼儿期、儿童期,于成人期确诊的病例少见报道。本例患者婴幼儿期症状隐匿,成年后因糖尿病、月经紊乱就诊,经基因检测后确诊为PWS。本文侧重于分析该患者成年后临床表现,并复习相关文献,以提高对该病的认识。This article reports a case of Prader-Willi syndrome(PWS)diagnosed in adulthood.PWS is a rare genetic disease with most of the reported cases being diagnosed in infancy and childhood,and adulthood case is rarely reported.The patient had insidious symptoms in infancy and was diagnosed as PWS using genetic test in adulthood due to diabetes and menstrual disorders.This article focuses on the patient′s clinical manifestations in adulthood,and reviews relevant literature to improve the understanding of the disease.

关 键 词：PRADER-WILLI综合征 糖尿病 月经紊乱 

分 类 号：R596[医药卫生—内科学]