Cognitive phenotype and biological mechanisms of Turner syndrome
10.3760/cma.j.cn371468-20220920-00559
- VernacularTitle:特纳综合征患者认知表型及生物机制
- Author:
Zhibo ZHOU
1
;
Hongbo YANG
;
Hui PAN
Author Information
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，100730 北京
- Keywords:
Turner syndrome;
Cognitive function;
Haploinsufficiency;
Genomic imprinting
- From:
Chinese Journal of Behavioral Medicine and Brain Science
2023;32(3):278-282
- CountryChina
- Language:Chinese
-
Abstract:
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.
