Center for Interdisciplinary Brain Sciences Research, Department of Psychiatry and Behavioral Sciences, Stanford University, Stanford, California, USA.
Department of Psychology, University of Minnesota, Minneapolis, Minnesota, USA.
Hum Brain Mapp. 2023 Jul;44(10):4028-4039. doi: 10.1002/hbm.26327. Epub 2023 May 1.
Turner syndrome (TS) is a common sex chromosome aneuploidy in females associated with various physical, cognitive, and socio-emotional phenotypes. However, few studies have examined TS-associated alterations in the development of cortical gray matter volume and the two components that comprise this measure-surface area and thickness. Moreover, the longitudinal direct (i.e., genetic) and indirect (i.e., hormonal) effects of X-monosomy on the brain are unclear. Brain structure was assessed in 61 girls with TS (11.3 ± 2.8 years) and 55 typically developing girls (10.8 ± 2.3 years) for up to 4 timepoints. Surface-based analyses of cortical gray matter volume, thickness, and surface area were conducted to examine the direct effects of X-monosomy present before pubertal onset and indirect hormonal effects of estrogen deficiency/X-monosomy emerging after pubertal onset. Longitudinal analyses revealed that, whereas typically developing girls exhibited normative declines in gray matter structure during adolescence, this pattern was reduced or inverted in TS. Further, girls with TS demonstrated smaller total surface area and larger average cortical thickness overall. Regionally, the TS group exhibited decreased volume and surface area in the pericalcarine, postcentral, and parietal regions relative to typically developing girls, as well as larger volume in the caudate, amygdala, and temporal lobe regions and increased thickness in parietal and temporal regions. Surface area alterations were predominant by age 8, while maturational differences in thickness emerged by age 10 or later. Taken together, these results suggest the involvement of both direct and indirect effects of X-chromosome haploinsufficiency on brain development in TS.
特纳综合征（TS）是女性常见的性染色体非整倍体，与各种身体、认知和社会情感表型有关。然而，很少有研究检查过与 TS 相关的皮质灰质体积及其组成部分（表面积和厚度）的发育变化。此外，X 单体性对大脑的纵向直接（即遗传）和间接（即激素）影响尚不清楚。对 61 名患有 TS（11.3±2.8 岁）的女孩和 55 名发育正常的女孩（10.8±2.3 岁）的大脑结构进行了长达 4 个时间点的评估。进行了基于表面的皮质灰质体积、厚度和表面积分析，以检查 X 单体性在青春期前存在的直接影响以及雌激素缺乏/X 单体性在青春期后出现的间接激素影响。纵向分析表明，尽管发育正常的女孩在青春期期间表现出正常的灰质结构下降，但这种模式在 TS 中减少或倒置。此外，TS 女孩的总表面积较小，平均皮质厚度较大。在区域上，与发育正常的女孩相比，TS 组在顶枕回和顶区的体积和表面积较小，尾状核、杏仁核和颞叶区域的体积较大，顶区和颞区的厚度增加。到 8 岁时，表面积的变化占主导地位，而到 10 岁或更晚时，厚度的成熟差异才显现出来。总之，这些结果表明，X 染色体单倍体不足对 TS 中大脑发育的直接和间接影响都有参与。
