特纳综合征患者认知表型及生物机制  

Cognitive phenotype and biological mechanisms of Turner syndrome

作　　者：周智博 阳洪波 潘慧 Zhou Zhibo;Yang Hongbo;Pan Hui(Department of Endocrinology,Peking Union Medical College Hospital,Chinese Academy of Medical Science and Peking Union Medical College,Key Laboratory of Endocrinology of National Health Commission,State Key Laboratory of Complex Severe and Rare Diseases,Beijing 100730,China)

机构地区：[1]中国医学科学院北京协和医学院北京协和医院内分泌科,国家卫生健康委员会内分泌重点实验室,疑难重症及罕见病国家重点实验室,北京100730

出　　处：《中华行为医学与脑科学杂志》2023年第3期278-282,共5页Chinese Journal of Behavioral Medicine and Brain Science

摘　　要：特纳综合征(Turner syndrome,TS)是由于X染色体的缺失或结构异常引起的一类疾病,典型核型为45,X,患者主要表现为身材矮小、原发性卵巢功能发育不全和脑与认知表型异常等。近年来研究发现,在脑结构和脑功能方面,TS患者与同龄正常人群间存在差异,主要包括顶枕区、杏仁核、前额叶皮质、颞叶等。在认知功能方面,TS患者表现为视觉空间能力、抽象推理和执行功能等方面的认知障碍和社会功能受损,且患认知与心理相关疾病风险增高。据报道,TS患者独特的脑结构、脑功能和认知表型可能与其X染色体部分区域单倍剂量不足或功能性二体、性激素异常状态、外源性补充雌激素或生长激素、基因印记等原因有关。本文围绕TS患者的脑结构、脑功能和认知表型及其生物学机制进行综述。Turner syndrome is a disease resulted from the complete or partial loss of an X chromosome,and the typical karyotype is 45,X.Patients with Turner syndrome are susceptible to many medical problems,including short stature,congenital agenesis of ovaries and cognitive function impairment.More specifically,recent studies reported that these patients’brain structure and brain function are different with normal people,especially in the occipital area,the amygdala,the prefrontal cortex and temporal lobe.And they also show a particular pattern of cognitive impairment(including visuospatial ability,abstract reasoning and excutive function)and social impairment and an increased risk of specific neurodevelopmental disorders.Additionally,haploinsufficiency of escape genes,gonadal steroid deficiency and failure to express parentally imprinted genes may contribute to the differences in brain structure and brain function between these patients and normal people,causing cognitive and social impairment in patients with Turner syndrome.This study reviewed the alterations and biological mechanisms in brain structure,brain function and cognitive profile in patients with Turner syndrome.

关 键 词：特纳综合征 认知功能 单倍剂量不足 基因印记 

分 类 号：R711.1[医药卫生—妇产科学]