ArticleThe Journal of clinical endocrinology and metabolism2023
Executive Dysfunction in Klinefelter Syndrome: Associations With Brain Activation and Testicular Failure.
Article in The Journal of clinical endocrinology and metabolism, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Klinefelter syndrome and ADHD: a short systematic review.Frontiers in psychiatry · 2025Review
- Using Organoids to Model Sex Differences in the Human Brain.Biological psychiatry global open science · 2024Review
- Understanding the Neuropsychological Implications of Klinefelter Syndrome in Pediatric Populations: Current Perspectives.Pediatric reports · 2024Review
- Klinefelter Syndrome: A Genetic Disorder Leading to Neuroendocrine Modifications and Psychopathological Vulnerabilities in Children-A Literature Review and Case Report.Children (Basel, Switzerland) · 2024Review
- Germ cell and other tumors in individuals with differences in sex development.CA: a cancer journal for cliniciansReview
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
Abstract
contextExecutive dysfunction is a well-recognized component of the cognitive phenotype of Klinefelter syndrome (KS), yet the neural basis of KS-associated cognitive weaknesses, and their association with testicular failure is unknown.
objectiveWe investigated executive function, brain activation, and pubertal development in adolescents with and without KS.
methodsForty-three adolescents with KS (mean age 12.3 ± 2.3 years) and 41 typically developing boys (mean age 11.9 ± 1.8 years) underwent pubertal evaluation, behavioral assessment, and completed functional magnetic resonance imaging (fMRI) as they performed an executive function task, the go/no-go task. Group differences in activation were examined. Associations among activation, executive function, and pubertal development measures were tested in secondary analyses.
resultsBoys with KS exhibited reduced executive function, as well as lower activation in brain regions subserving executive function, including the inferior frontal gyrus, anterior insula, dorsal anterior cingulate cortex, and caudate nucleus. Secondary analyses indicated that the magnitude of activation differences in boys with KS was associated with severity of pubertal developmental delay, as indexed by lower testosterone (t(36) = 2.285; P = .028) and lower testes volume (t(36) = 2.238; P = .031). Greater parent-reported attention difficulties were additionally associated with lower testicular volume (t(36) = -2.028; P = .050).
conclusionThese findings indicate a neural basis for executive dysfunction in KS and suggest alterations in pubertal development may contribute to increased severity of this cognitive weakness. Future studies that examine whether these patterns change with testosterone replacement therapy are warranted.
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