ArticleCell death & disease2018
Transcriptome analysis of the adult human Klinefelter testis and cellularity-matched controls reveals disturbed differentiation of Sertoli- and Leydig cells.
Article in Cell death & disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.
- Sex chromosome aneuploidy impacts on human gene expression and regulation: a systematic review.Molecular medicine (Cambridge, Mass.) · 2025Pooled it
- Single-cell analysis of fetal testis reveals dysfunction of human Leydig cells in Klinefelter syndrome.The Journal of clinical investigation · 2026Article
- Downregulation of DACH2 Expression in an Adrenocortical Cell Model of PCOS with Adrenal Hyperandrogenism, and in Human Granulosa Cells from Patients with Hyperandrogenic-PCOS: a Link Between Ovaries and Adrenal Glands in PCOS.Reproductive sciences (Thousand Oaks, Calif.) · 2026Article
- An iPSC-based model of 47,XYY Jacobs syndrome reveals a DNA methylation-independent transcriptional dysregulation shared with male X aneuploid cells.Genome research · 2025Article
- KIF2C is essential for meiosis and manchette dynamics in male mice.Frontiers in cell and developmental biology · 2025Article
- Article
- X‑chromosome loss rescues Sertoli cell maturation and spermatogenesis in Klinefelter syndrome.Cell death & disease · 2024Article
- A Single-Step Genome-Wide Association Study for Semen Traits of Egyptian Buffalo Bulls.Animals : an open access journal from MDPI · 2023Article
- The multi-omic landscape of sex chromosome abnormalities: current status and future directions.Endocrine connections · 2023Review
- Review
- 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
- Integrative epigenome profiling of 47XXY provides insights into whole genomic DNA hypermethylation and active chromatin accessibility.Frontiers in molecular biosciences · 2023Article
- Application of single-cell RNA sequencing on human testicular samples: a comprehensive review.International journal of biological sciences · 2023Review
- Individuals with numerical and structural variations of sex chromosomes: interdisciplinary management with focus on fertility potential.Frontiers in endocrinology · 2023Review
- Transcriptomic differences between fibrotic and non-fibrotic testicular tissue reveal possible key players in Klinefelter syndrome-related testicular fibrosis.Scientific reports · 2022Article
- The Role of Long Noncoding RNAs on Male Infertility: A Systematic Review and In Silico Analysis.Biology · 2022Review
- KIF2C affects sperm cell differentiation in patients with Klinefelter syndrome, as revealed by RNA-Seq and scRNA-Seq data.FEBS open bio · 2022Article
- The Fate of Leydig Cells in Men with Spermatogenic Failure.Life (Basel, Switzerland) · 2022Review
- Single-Cell Transcriptomics-Based Study of Transcriptional Regulatory Features in the Non-Obstructive Azoospermia Testis.Frontiers in genetics · 2022Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The most common human sex chromosomal disorder is Klinefelter syndrome (KS; 47,XXY). Adult patients with KS display a diverse phenotype but are nearly always infertile, due to testicular degeneration at puberty. To identify mechanisms causing the selective destruction of the seminiferous epithelium, we performed RNA-sequencing of 24 fixed paraffin-embedded testicular tissue samples. Analysis of informative transcriptomes revealed 235 differentially expressed transcripts (DETs) in the adult KS testis showing enrichment of long non-coding RNAs, but surprisingly not of X-chromosomal transcripts. Comparison to 46,XY samples with complete spermatogenesis and Sertoli cell-only-syndrome allowed prediction of the cellular origin of 71 of the DETs. DACH2 and FAM9A were validated by immunohistochemistry and found to mark apparently undifferentiated somatic cell populations in the KS testes. Moreover, transcriptomes from fetal, pre-pubertal, and adult KS testes showed a limited overlap, indicating that different mechanisms are likely to operate at each developmental stage. Based on our data, we propose that testicular degeneration in men with KS is a consequence of germ cells loss initiated during early development in combination with disturbed maturation of Sertoli- and Leydig cells.
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