Klinefelter syndrome (KS, 47,XXY) is a common sex chromosome aneuploidy in males that is associated with a wide range of cognitive, social and emotional characteristics. The neural bases of these symptoms, however, are unclear. Brain structure in 19 pre- or early-pubertal boys with KS (11.5 ± 1.8 years) and 22 typically developing (control) boys (8.1 ± 2.3 years) was examined using surface-based analyses of cortical gray matter volume, thickness and surface area. Boys in the KS group were treatment-naïve with respect to testosterone replacement therapy. Reduced volume in the insula and dorsomedial prefrontal cortex was observed in the KS relative to the TD group, as well as increased volume in the parietal, occipital and motor regions. Further inspection of surface-based metrics indicated that whereas KS-associated increases in volume were driven by differences in thickness, KS-associated reductions in volume were associated with decreases in surface area. Exploratory analyses additionally indicated several correlations between brain structure and behavior, providing initial support for a neural basis of cognitive and emotional symptoms of this condition. Taken together, these data add support for a neuroanatomical phenotype of KS and extend previous studies through clarifying the precise neuroanatomical structural characteristics of that give rise to volumetric alterations.

克兰费尔特综合征 (KS, 47,XXY) 是男性常见的性染色体非整倍体，与广泛的认知、社会和情感特征相关。然而，这些症状的神经基础尚不清楚。使用基于表面的皮质灰质体积、厚度和表面积分析，检查了 19 名青春期前或早期患有 KS 的男孩（11.5 ± 1.8 岁）和 22 名正常发育（对照）男孩（8.1 ± 2.3 岁）的大脑结构。 KS 组的男孩未曾接受过睾酮替代疗法。与 TD 组相比，KS 组的岛叶和背内侧前额叶皮层的体积减少，顶叶、枕叶和运动区域的体积增加。对基于表面的指标的进一步检查表明，虽然 KS 相关的体积增加是由厚度差异驱动的，但 KS 相关的体积减少与表面积的减少相关。探索性分析还表明大脑结构和行为之间存在一些相关性，为这种情况的认知和情绪症状的神经基础提供了初步支持。总而言之，这些数据增加了对 KS 神经解剖表型的支持，并通过阐明引起体积改变的精确神经解剖结构特征来扩展先前的研究。