4.6 Article

White Matter Aberrations in Prepubertal Estrogen-Naive Girls with Monosomic Turner Syndrome

Journal

CEREBRAL CORTEX
Volume 22, Issue 12, Pages 2761-2768

Publisher

OXFORD UNIV PRESS INC
DOI: 10.1093/cercor/bhr355

Keywords

diffusion tensor imaging (DTI); MRI; neuroimaging; turner syndrome; voxel-based morphometry (VBM)

Categories

Funding

  1. National Institute of Health [5-R01-HD049653]
  2. Chain of Love Foundation
  3. American Psychiatric Institute for Research and Education/Lilly Psychiatric Research Fellowship Award
  4. National Institute of Mental Health [T32-MH19908]

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Turner syndrome (TS) offers a unique opportunity to investigate associations among genes, the brain, and cognitive phenotypes. In this study, we used 3 complementary analyses of diffusion tensor imaging (DTI) data (whole brain, region of interest, and fiber tractography) and a whole brain volumetric imaging technique to investigate white matter (WM) structure in prepubertal, nonmosaic, estrogen-naive girls with TS compared with age and sex matched typically developing controls. The TS group demonstrated significant WM aberrations in brain regions implicated in visuospatial abilities, face processing, and sensorimotor and social abilities compared with controls. Extensive spatial overlap between regions of aberrant WM structure (from DTI) and regions of aberrant WM volume were observed in TS. Our findings indicate that complete absence of an X chromosome in young females (prior to receiving exogenous estrogen) is associated with WM aberrations in specific regions implicated in characteristic cognitive features of TS.

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