Brain structure in Triple X syndrome: Regional gray matter volume and cortical thickness in adult women with 47,XXX karyotype

Abstract

Background Changes in the brain structure of women with Triple X syndrome (karyotype 47,XXX) have been described in a few studies to date, including reduced total brain volume and regional reductions in gray substance in cortical and subcortical areas. Methods Using voxel-based morphometry (VBM) and surface-based morphometry (SBM), we investigated regional gray matter changes in a sample of n = 20 adult women with 47,XXX karyotype using T1-weighted 3T MRI scans. Results Compared to an age- and education-matched control group, the VBM revealed decreased regional gray matter volumes in the hippocampus, amygdala, parts of the basal ganglia, insula, prefrontal areas and cerebellum. To a lesser extent, we also noted specific reductions in cortical thickness in a smaller part of those regions. Conclusion This network is significantly involved in the processing of cognitive, affective, and social stimuli and is a potential neuronal correlate of the autism-like social-cognitive problems described in 47,XXX in the literature.