Prader-Willi综合征性腺发育不良的研究进展  

Research progress on hypogonadism with Prader-Willi syndrome

作　　者：杨敏[1] 辛颖[1] Yang Min;Xin Ying(Department of Pediatric Endocrinology and Genetic Metabolism,Shengjing Hospital of China Medical University,Shenyang 110004,China)

机构地区：[1]中国医科大学附属盛京医院小儿内分泌遗传代谢科,沈阳110004

出　　处：《中国小儿急救医学》2020年第10期770-774,共5页Chinese Pediatric Emergency Medicine

基　　金：金磊儿科内分泌中青年医师成长科研基金(PEGRF201708001)。

摘　　要：Prader-Willi综合征(Prader-Willi syndrome,PWS)是一种罕见的遗传性疾病,性腺发育不良是PWS的重要及显著的特征。PWS的性腺发育不良被认为由下丘脑垂体低功及原发性性腺不良共同导致,原发性性腺不良的因素越来越被重视。目前针对PWS性腺发育治疗尚无指南可循,多参考其他性腺发育不良,因此对于青春期及成年后PWS患者性腺发育不良的个体化治疗充满挑战。国内对于PWS患者性腺发育的研究较少,该文就PWS性腺发育不良发病机制、PWS青春发育特点及相关的治疗进展进行综述,旨在提高PWS性腺发育不良的认识及治疗。Prader-Willi syndrome(PWS)is a rare genetic condition affecting both males and females.Hypogonadism is an important and prominent feature of PWS patients.Hypogonadismis is believed to have both a central(hypothalamic)and primary etiology,and the latter is paid more attention.Guidelines for treatment of hypogonadism with PWS are not available and most of them were recommended based on other kinds of hypogonadism.Therefore,it remains a challenge in adolescent and adult with PWS.This study reviews the mechanism,characteristics and treatment progress of hypogonadism with PWS,aiming to improve the understanding and treatment of gonadal dysplasia of PWS.

关 键 词：PRADER-WILLI综合征 性腺发育不良 青春发育 

分 类 号：R596[医药卫生—内科学]