Perrault综合征  

Perrault syndrome

作　　者：孙贺文 吴琼 史文迪 SUN Hewen;WU Qiong;SHI Wendi(Department of Speech and Hearing Sciences,Zhejiang Chinese Medicine University,Hangzhou,310053,China;Hangzhou Ren’ai Deafness Rehabilitation Research Institute,Hangzhou,310009,China;Hui’er International Audiology Research Center,Hangzhou,310004,China)

机构地区：[1]浙江中医药大学听力与言语科学系,杭州310053 [2]杭州仁爱耳聋康复研究院,杭州310009 [3]惠耳国际听力学研究中心,杭州310004

出　　处：《中华耳科学杂志》2020年第1期158-162,共5页Chinese Journal of Otology

摘　　要：Perrault综合征即家族性卵巢早衰合并感音神经性耳聋综合征,是一种有遗传异质性的隐性遗传疾病。主要表现为女性卵巢发育不全,男女均可发生的感音神经性听力损失,部分患者伴随其他器官系统的异常,且发病年龄早,表型变化多样,与非综合征型耳聋相比其遗传背景更为复杂,临床上治疗也更为棘手。本文通过总结分析国内外多篇案例报道,从临床表现、干预方法及鉴别诊断方面进行了综述,提高临床医师对该病的认识,进行早期诊断和相关风险评估,改善预后。Perrault syndrome(premature ovarian failure with sensorineural deafness)is a recessive genetic disease with genetic heterogeneity.Mainly manifested as female ovarian hypoplasia,sensorineural hearing loss can occur in both men and women,with some patients showing abnormalities of other organs/systems with early onset and variable phenotypes,indicating a more complex genetic background compared with non-syndromic hearing loss and rendering treatment more challenging.This paper summarizes a number of domestic and international case reports of this syndrome,and reviews its clinical manifestations,intervention methodologies and differential diagnosis in hope to improve the clinician’s understanding of the disease,in relation to early diagnosis and risk assessment,as well as prognosis improvement.

关 键 词：Perrault综合征 基因 感音神经性听力损失 卵巢发育不全 

分 类 号：R764[医药卫生—耳鼻咽喉科]