Prader-Willi syndrome diagnosed in adulthood: A case report

VernacularTitle:成人期确诊的Prader-Willi综合征一例病例报告
Author: Huizheng HU ¹ ; Xiaoguang SHI ; Jing LI ; Zhongyan SHAN
Author Information

1. 中国医科大学附属第一医院内分泌代谢科，沈阳　110001
Keywords: Prader-Willi syndrome; Diabetes mellitus; Menstrual disorder
From: Chinese Journal of Endocrinology and Metabolism 2023;39(1):60-65
CountryChina
Language:Chinese
Abstract: 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.