ArticleBMC genomics2015
Deregulation of sertoli and leydig cells function in patients with Klinefelter syndrome as evidenced by testis transcriptome analysis.
Article in BMC genomics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers, 1 of them a synthesis that pooled it.
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Who cites it
36 citing papers in PubMed, 1 synthesis or guideline pooled it, 63 citations in OpenAlex.
- Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review.Molecular medicine (Cambridge, Mass.) · 2025Pooled it
- Can Hormonal Therapy Improve the Outcomes of mTESE in Patients With Non-Obstructive Azoospermia?Andrology · 2026Article
- The testicular microvasculature in Klinefelter syndrome is immature with compromised integrity and characterized by excessive inflammatory cross-talk.Human reproduction (Oxford, England) · 2023Article
- The construction of a testis transcriptional cell atlas from embryo to adult reveals various somatic cells and their molecular roles.Journal of translational medicine · 2023Article
- The multi-omic landscape of sex chromosome abnormalities: current status and future directions.Endocrine connections · 2023Review
- Human in vitro spermatogenesis as a regenerative therapy - where do we stand?Nature reviews. Urology · 2023Review
- New developments and future trajectories in supernumerary sex chromosome abnormalities: a summary of the 2022 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and XYY.Endocrine connections · 2023Review
- Leydig cell metabolic disorder act as a new mechanism affecting for focal spermatogenesis in Klinefelter syndrome patients: a real world cross-sectional study base on the age.Frontiers in endocrinology · 2023Article
- Transcriptomic differences between fibrotic and non-fibrotic testicular tissue reveal possible key players in Klinefelter syndrome-related testicular fibrosis.Scientific reports · 2022Article
- Article
- Genetic Implications of Male-Reproductive-Health-Associated Comorbidities.Turkish journal of urology · 2022Article
- Candidate genes for infertility: an in-silico study based on cytogenetic analysis.BMC medical genomics · 2022Article
- Expression of G-Protein-Coupled Estrogen Receptor (Biology · 2022Article
- Sex chromosome aneuploidies give rise to changes in the circular RNA profile: A circular transcriptome-wide study of Turner and Klinefelter syndrome across different tissues.Frontiers in genetics · 2022Article
- Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome.American journal of human genetics · 2021Article
- Article
- Integrated functional genomic analyses of Klinefelter and Turner syndromes reveal global network effects of altered X chromosome dosage.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- Deletion ofFrontiers in genetics · 2020Article
- Modeling Klinefelter Syndrome Using Induced Pluripotent Stem Cells Reveals Impaired Germ Cell Differentiation.Frontiers in cell and developmental biology · 2020Article
- Article
Corrections and comments
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Authors and funding
10 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundKlinefelter Syndrome (KS) is the most common abnormality of sex chromosomes (47,XXY) and represents the first genetic cause of male infertility. Mechanisms leading to KS testis degeneration are still not completely defined but considered to be mainly the result of germ cells loss. In order to unravel the molecular basis of global testis dysfunction in KS patients, we performed a transcriptome analysis on testis biopsies obtained from 6 azoospermic non-mosaic KS patients and 3 control subjects.
resultsThe analysis found that, compared to controls, KS patients showed the differential up- and down-expression of 656 and 247 transcripts. The large majority of the deregulated transcripts were expressed by Sertoli cells (SCs) and Leydig cells (LCs). Functional analysis of the deregulated transcripts indicated changes of genes involved in cell death, inflammatory response, lipid metabolism, steroidogenesis, blood-testis-barrier formation and maintenance, as well as spermatogenesis failure.
conclusionsTaken together, present data highlight the modulation of hundreds of genes in the somatic components of KS patient testis. The increased LCs steroidogenic function together with the impairment of inflammatory pathways and BTB structure, result in increased apoptosis. These findings may represent a critical roadmap for therapeutic intervention and prevention of KS-related testis failure.
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