Turner综合征临床研究现状

Clinical research progress on Turner syndrome

Turner综合征(TS)是一种罕见的女性性染色体疾病,该病患者常表现为身材矮小、性腺发育不良、先天性心脏病、内分泌紊乱和淋巴水肿等。导致TS患儿死亡的主要原因是并发心血管疾病。嵌合体核型是TS患者常见染色体核型。由于TS患者临床表现差异、染色体核型多样及二者不一致性,增加临床对该病的诊断难度。笔者拟就TS患者相关遗传学与基因组学、常见并发症、诊断和治疗最新研究进展进行阐述,重点介绍嵌合体核型TS患儿的临床表现及诊断,旨在帮助医师进一步认识TS,减少对该病患者的漏诊和误诊。

Turner syndrome(TS)is a rare sex chromosome disease in women,characterized by short stature,gonadal dysplasia,congenital heart disease,endocrine disorders and lymphedema.TS women complicated with cardiovascular disease is the main cause of their death.Chromosome mosaic are common karyotypes in TS women.However,due to the differences in clinical manifestations,diversity of chromosome karyotypes,and the inconsistency between the two increase the difficulty of diagnosis of TS women.Therefore,this article will make a comprehensive review of TS related genetics,genomics,common complications,diagnosis and treatment from the perspective of clinical research,and focuses on clinical manifestations and diagnosis of TS children with mosaic karyotypes,aiming to help clinicians further understand TS and reduce clinical missed diagnosis and misdiagnosis of TS.