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Related Experiment Video

Updated: Jun 5, 2026

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
09:39

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome

Published on: December 4, 2021

Neuroanatomical spatial patterns in Turner syndrome.

Matthew J Marzelli1, Fumiko Hoeft, David S Hong

  • 1Center for Interdisciplinary Brain Sciences Research, Department of Psychiatry and Behavioral Sciences, Stanford University School of Medicine, Stanford, CA 94305, USA.

Neuroimage
|January 4, 2011
PubMed
Summary

This study reveals distinct brain morphology patterns in girls with Turner syndrome (TS) before estrogen treatment, identifying key differences in gray matter volume and brain structure. These findings offer early insights into the neuroanatomical basis of TS cognitive challenges.

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Turner syndrome (TS) is a genetic condition resulting from X-chromosome absence, leading to estrogen deficiency and cognitive deficits.
  • Previous neuroimaging studies in TS have limitations, with few focusing on pre-pubertal girls before estrogen therapy.
  • Understanding early neuroanatomical variations in TS is crucial for correlating with cognitive phenotypes.

Purpose of the Study:

  • To investigate pre-estrogen neuroanatomical differences in pediatric girls with Turner syndrome using advanced imaging techniques.
  • To identify specific brain morphology patterns associated with TS in young individuals.
  • To assess the effectiveness of multivariate pattern analysis in discriminating TS from controls.

Main Methods:

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  • Voxel-based morphometry (VBM) analyzed high-resolution MRI scans of two cohorts: pediatric (pre-estrogen) and adolescent girls with TS and age-matched controls.
  • Multivariate linear support vector machine (SVM) analysis with leave-one-out cross-validation was used to identify discriminating neuroanatomical patterns.
  • Comparison of brain morphology patterns across heterogeneous TS cohorts was assessed.

    • Main Results:

    • VBM revealed reduced gray matter in the precentral, postcentral, and supramarginal gyri, and enlarged temporal gyri in both TS cohorts.
    • SVM classifiers accurately discriminated TS from controls, highlighting spatial patterns consistent with VBM findings.
    • SVM identified additional neuroanatomical variations in TS, including the hippocampus, orbitofrontal cortex, insula, caudate, and cuneus.

    Conclusions:

    • Robust spatial patterns of altered brain morphology are evident in Turner syndrome during development, even before estrogen treatment.
    • These findings provide critical neuroanatomical correlates for the cognitive and behavioral features observed in TS.
    • The study underscores the value of multivariate neuroimaging approaches for understanding complex genetic conditions like TS.