ArticleThe Journal of neuroscience : the official journal of the Society for Neuroscience2014
Influence of the X-chromosome on neuroanatomy: evidence from Turner and Klinefelter syndromes.
Article in The Journal of neuroscience : the official journal of the Society for Neuroscience, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 54 citations in OpenAlex.
- Androgen treatment effects on hippocampus structure in boys with Klinefelter syndrome.Psychoneuroendocrinology · 2019Trial
- New waves in psychiatric neuroimaging.Nature neuroscience · 2026Article
- Relationship between X chromosome mosaicism, neuroanatomy and cognitive performance in females.bioRxiv : the preprint server for biology · 2026Article
- Case Report of 49,XXXXY Syndrome: A Rare Variation of Klinefelter Syndrome With Seizure Disorder and ASD.Clinical case reports · 2025Article
- Neuroanatomical alterations in young boys and adolescents with Klinefelter syndrome.Psychiatry research. Neuroimaging · 2025Article
- Syndrome-Specific Neuroanatomical Phenotypes in Girls With Turner and Noonan Syndromes.Biological psychiatry. Cognitive neuroscience and neuroimaging · 2024Article
- Giftedness and atypical sexual differentiation: enhanced perceptual functioning through estrogen deficiency instead of androgen excess.Frontiers in endocrinology · 2024Review
- Adolescent brain development in girls with Turner syndrome.Human brain mapping · 2023Article
- Sex and Brain: The Role of Sex Chromosomes and Hormones in Brain Development and Parkinson's Disease.Cells · 2023Review
- Aneuploidy effects on human gene expression across three cell types.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- A Cross-Species Neuroimaging Study of Sex Chromosome Dosage Effects on Human and Mouse Brain Anatomy.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2023Article
- Neurodevelopmental and psychiatric disorders in females with Turner syndrome: a population-based study.Journal of neurodevelopmental disorders · 2021Article
- Cortical gray matter structure in boys with Klinefelter syndrome.Psychiatry research. Neuroimaging · 2021Article
- Social functioning and emotion recognition in adults with triple X syndrome.BJPsych open · 2021Article
- Cord blood DNA methylome in newborns later diagnosed with autism spectrum disorder reflects early dysregulation of neurodevelopmental and X-linked genes.Genome medicine · 2020Article
- Brain Development in School-Age and Adolescent Girls: Effects of Turner Syndrome, Estrogen Therapy, and Genomic Imprinting.Biological psychiatry · 2020Article
- Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2019Review
- X-Chromosome Effects on Attention Networks: Insights from Imaging Resting-State Networks in Turner Syndrome.Cerebral cortex (New York, N.Y. : 1991) · 2018Article
- Multi-Table Differential Correlation Analysis of Neuroanatomical and Cognitive Interactions in Turner Syndrome.Neuroinformatics · 2018Article
- Aberrant ocular architecture and function in patients with Klinefelter syndrome.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 2 countries.
Funding
Abstract
Studies of sex effects on neurodevelopment have traditionally focused on animal models investigating hormonal influences on brain anatomy. However, more recent evidence suggests that sex chromosomes may also have direct upstream effects that act independently of hormones. Sex chromosome aneuploidies provide ideal models to examine this framework in humans, including Turner syndrome (TS), where females are missing one X-chromosome (45X), and Klinefelter syndrome (KS), where males have an additional X-chromosome (47XXY). As these disorders essentially represent copy number variants of the sex chromosomes, investigation of brain structure across these disorders allows us to determine whether sex chromosome gene dosage effects exist. We used voxel-based morphometry to investigate this hypothesis in a large sample of children in early puberty, to compare regional gray matter volumes among individuals with one (45X), two (typically developing 46XX females and 46XY males), and three (47XXY) sex chromosomes. Between-group contrasts of TS and KS groups relative to respective sex-matched controls demonstrated highly convergent patterns of volumetric differences with the presence of an additional sex chromosome being associated with relatively decreased parieto-occipital gray matter volume and relatively increased temporo-insular gray matter volumes. Furthermore, z-score map comparisons between TS and KS cohorts also suggested that this effect occurs in a linear dose-dependent fashion. We infer that sex chromosome gene expression directly influences brain structure in children during early stages of puberty, extending our understanding of genotype-phenotype mechanisms underlying sex differences in the brain.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.