SynthesisThe Journal of clinical endocrinology and metabolism2026
The extra X chromosome and autoimmune susceptibility in Klinefelter syndrome.
Synthesis in The Journal of clinical endocrinology and metabolism, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
1 citing paper in PubMed, 1 synthesis or guideline pooled it.
- The extra X chromosome and autoimmune susceptibility in Klinefelter syndrome.The Journal of clinical endocrinology and metabolism · 2026Pooled it
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo systematically evaluate and quantitatively synthesize the association between Klinefelter syndrome (KS) (47,XXY karyotype) and autoimmune susceptibility.
methodsPubMed/MEDLINE, Scopus, and Web of Science were systematically searched from database inception to April 30, 2026, for studies evaluating autoimmune diseases or autoimmune serological markers in individuals with KS. The protocol was registered in PROSPERO (CRD420261399097). Random-effects models were prespecified, summary data were extracted from published reports, and pooled effect estimates were expressed as odds ratios (ORs) with 95% CIs. Subgroup analyses were performed according to outcome definition (isolated autoantibody positivity vs clinically manifest autoimmune disease). Risk of bias was assessed using the Newcastle-Ottawa Scale.
resultsEight studies were included in the qualitative synthesis and six studies (8 datasets) in the quantitative analysis, comprising 2289 individuals with KS and 51 250 114 controls. KS was associated with markedly increased autoimmune susceptibility compared with control populations (OR 23.25, 95% CI 9.96-54.31), with moderate-to-substantial between-study heterogeneity (I2 = 66.4%). Associations were stronger for clinically manifest autoimmune diseases (OR 48.46, 95% CI 17.68-132.87) than for isolated autoantibody positivity (OR 9.99, 95% CI 1.18-84.77). The autoimmune spectrum predominantly involved female-predominant and interferon-associated disorders, including systemic lupus erythematosus, Sjögren syndrome, systemic sclerosis, autoimmune thyroid disease, and type 1 diabetes mellitus.
conclusionKS is associated with increased autoimmune susceptibility, particularly for clinically overt autoimmune diseases. These findings support a potential contribution of sex chromosome complement to immune dysregulation and reinforce the importance of clinical awareness of autoimmune comorbidities in individuals with KS.
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