ArticleThe Journal of clinical endocrinology and metabolism2009
X-chromosome gene dosage and the risk of diabetes in Turner syndrome.
Article in The Journal of clinical endocrinology and metabolism, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 2 of them syntheses that pooled it.
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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.
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Who cites it
57 citing papers in PubMed, 2 syntheses or guidelines pooled it, 115 citations in OpenAlex.
- Clinical practice guidelines for the care of girls and women with Turner syndrome.European journal of endocrinology · 2024Guideline
- The Prevalence of Diabetes in Autistic Persons: A Systematic Review.Clinical practice and epidemiology in mental health : CP & EMH · 2020Pooled it
- Review
- Integrative Bioinformatics Analyses Reveal X Chromosome Inactivation Escape Genes Dosage Dysregulation Is the Primary Contributor to Turner Syndrome.Iranian journal of biotechnology · 2026Article
- Adipose tissue distribution and metabolic profile of young individuals with turner syndrome.Journal of the Endocrine Society · 2026Article
- A case report on atypical chromosomal variations in Turner syndrome.Molecular cytogenetics · 2026Article
- The Influence of X Chromosome Parent-of-Origin on Glycemia in Individuals with Turner Syndrome.Hormone research in paediatrics · 2026Article
- Characterization of Turner Syndrome-associated Diabetes Mellitus.The Journal of clinical endocrinology and metabolism · 2025Article
- Expression Patterns of Escape Genes in Turner Syndrome Fibroblasts and Induced Pluripotent Stem Cells.International journal of molecular sciences · 2025Article
- Analysis of influencing factors on Turner syndrome combined with autoimmune thyroid disease.Frontiers in endocrinology · 2025Article
- Associations of Karyotype and Age at Diagnosis with Physical Features and Comorbidities in Turner Syndrome: A Single-Site Experience.The application of clinical genetics · 2025Article
- Turner Syndrome where are we?Orphanet journal of rare diseases · 2024Review
- 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
- Cardiovascular Disease and Inpatient Complications in Turner Syndrome: A Propensity Score Analysis.Texas Heart Institute journal · 2024Article
- Screening for Turner Syndrome-Associated Hyperglycemia: Evaluating Hemoglobin A1c and Fasting Blood Glucose.Hormone research in paediatrics · 2024Article
- Review
- Chromosomal Abnormalities of Interest in Turner Syndrome: An Update.Journal of pediatric genetics · 2023Review
- Non-alcoholic fatty liver disease in women - Current knowledge and emerging concepts.JHEP reports : innovation in hepatology · 2023Review
- Article
- Analysis of genetic variability in Turner syndrome linked to long-term clinical features.Frontiers in endocrinology · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundTurner syndrome (TS) is caused by the absence or fragmentation of the second sex chromosome. An increased risk of diabetes mellitus (DM) has consistently been noted, but the specific phenotype and genetic etiology of this trait are unknown.
methodsIn a prospective study, we examined the prevalence of DM in adult participants in an intramural National Institutes of Health (NIH) TS study. Results were analyzed with respect to karyotype, age, body mass index (BMI), and autoimmune indices. Insulin sensitivity and secretion were compared in age- and BMI-matched euglycemic women with TS and healthy female controls. We compared gene expression profiles in lymphocytes from differentially affected TS groups.
resultsType 2 DM was present in 56 of 224 (25%) of the women with TS; type 1 DM was found in only one woman (<0.5%). DM was more prevalent among women with an isoXq chromosome compared to X monosomy (40.0 vs. 17.3%; P = 0.004). Euglycemic women with TS (n = 72; age, 33 +/- 12 yr; BMI, 23 +/- 3 kg/m(2)) had significantly higher glycemic and lower insulin responses to OGTT, with insulin sensitivity similar to controls. Gene expression profiles comparing 46,X,i(X)q vs. 45,X groups showed a significant increase in Xq transcripts and in potentially diabetogenic autosomal transcripts in the isoXq group.
conclusionType 2 DM associated with deficient insulin release is significantly increased among women with monosomy for the X-chromosome but is increased even more among women with monosomy for Xp coupled with trisomy for Xq. These data suggest that haploinsufficiency for unknown Xp genes increases risk for DM and that excess dosage of Xq genes compounds the risk.
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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.