ArticleJournal of autoimmunity2012
Autoimmune disorders in women with turner syndrome and women with karyotypically normal primary ovarian insufficiency.
Article in Journal of autoimmunity, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 9 of them syntheses that pooled it.
What it found
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Who cites it
58 citing papers in PubMed, 9 syntheses or guidelines pooled it, 133 citations in OpenAlex.
- The extra X chromosome and autoimmune susceptibility in Klinefelter syndrome.The Journal of clinical endocrinology and metabolism · 2026Pooled it
- Global prevalence of autoimmune diseases in turner syndrome: a systematic review and meta-analysis.Annals of medicine · 2025Pooled it
- Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease.Journal of Crohn's & colitis · 2023Pooled it
- Therapeutic prospect on umbilical cord mesenchymal stem cells in animal model with primary ovarian insufficiency: a meta-analysis.Frontiers in medicine · 2023Pooled it
- The Clinical Spectrum of Inflammatory Bowel Disease Associated With Specific Genetic Syndromes: Two Novel Pediatric Cases and a Systematic Review.Frontiers in pediatrics · 2021Pooled it
- Prevalence of Celiac Disease in Patients With Turner Syndrome: Systematic Review and Meta-Analysis.Frontiers in medicine · 2021Pooled it
- Prevalence of autoimmune thyroid diseases among the Turner Syndrome patients: meta-analysis of cross sectional studies.BMC research notes · 2018Pooled it
- Cytokine gene considerations in giant cell arteritis: IL10 promoter polymorphisms and a review of the literature.Clinical reviews in allergy & immunology · 2014Pooled it
- Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature.Journal of endocrinological investigation · 2014Pooled it
- Live birth after oocyte donation in women with Turner syndrome compared with other causes of premature ovarian insufficiency: a retrospective cohort study.Journal of assisted reproduction and genetics · 2026Article
- Co-occurrence of Gitelman syndrome and turner syndrome: a Case Report and literature review.Frontiers in genetics · 2026Article
- Autoimmune Disease is Increased in Women With Primary Ovarian Insufficiency.The Journal of clinical endocrinology and metabolism · 2025Article
- Might Thyroid Function in Patients with Turner Syndrome Have a Significant Impact on Their Muscle Strength?International journal of molecular sciences · 2025Article
- Analysis of influencing factors on Turner syndrome combined with autoimmune thyroid disease.Frontiers in endocrinology · 2025Article
- Excess of severe autoimmune diseases in women with premature ovarian insufficiency: a population-based study.Human reproduction (Oxford, England) · 2024Article
- Metabolic Risk in Patients with a Diminished Ovarian Reserve and Premature Ovarian Insufficiency.Journal of clinical medicine · 2024Article
- Transition from pediatric to adult care in patients with Turner syndrome in Italy: a consensus statement by the TRAMITI project.Journal of endocrinological investigation · 2024Article
- Autoimmune Disease in Turner Syndrome in Sweden: An up to 25 Years' Controlled Follow-up Study.The Journal of clinical endocrinology and metabolism · 2024Article
- Article
- Hyperglycemia in Turner syndrome: Impact, mechanisms, and areas for future research.Frontiers in endocrinology · 2023Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 4 countries.
Funding
Abstract
The higher prevalence of autoimmune diseases in women compared to men could be due to effects of ovarian hormones, pregnancy and/or the presence of a second X chromosome. To elucidate the role of these factors, we investigated the prevalence and spectrum of autoimmune diagnoses in women with primary ovarian insufficiency associated with X chromosome monosomy (Turner syndrome, TS, n = 244) and women with karyotypically normal (46,XX) primary ovarian insufficiency (POI, n = 457) in a prospective study, conducted at the National Institutes of Health. We compared the study group prevalence to normative data for the U.S. population of women. Chronic lymphocytic (Hashimoto's) thyroiditis (HT) occurred in 37% of women with TS vs. 15% with POI (P < 0.0001); HT prevalence in both ovarian insufficiency groups significantly exceeded that in U.S. population of women (5.8%). Inflammatory bowel (IBD, 4%) and celiac disease (CD, 2.7%) were significantly increased in TS, but not in POI. No other autoimmune diagnosis, including Graves' disease or Type 1 diabetes appears to be significantly increased in either group. Women with TS had higher pro-inflammatory IL6 and TGF β1 levels (p < 0.0001 for both), and lower anti-inflammatory IL10 and TGF β2 levels (p < 0.005 for both) compared to POI and to normal volunteers. Lifetime estrogen exposure and parity were significantly lower in TS compared to POI, which were in turn lower than the general population of women. The finding that lymphocytic thyroiditis is greatly increased in both women with TS and POI suggests that factors associated with ovarian insufficiency per se promote this form of autoimmunity. The absence of a normal second X-chromosome further contributes to increased autoimmunity in TS.
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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.