The Journal of clinical endocrinology and metabolism最新文献

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Application of theranostics in thyroid cancer management. 治疗学在甲状腺癌治疗中的应用。
IF 5.1
The Journal of clinical endocrinology and metabolism Pub Date : 2026-10-16 DOI: 10.1210/clinem/dgag310
Archana Sridhar, Noha Behiri, Joanna Klubo-Gwiezdzinska
{"title":"Application of theranostics in thyroid cancer management.","authors":"Archana Sridhar, Noha Behiri, Joanna Klubo-Gwiezdzinska","doi":"10.1210/clinem/dgag310","DOIUrl":"10.1210/clinem/dgag310","url":null,"abstract":"<p><p>The incidental thyroid uptake of radiolabeled ligands used in positron emission tomography/computed tomography (PET/CT) targeting cell-surface proteins is observed in up to 6% of all scans. While diffuse thyroid uptake of ligands targeting somatostatin receptor type 2 (SSTR2), prostate-specific membrane antigen (PSMA), fibroblast activation protein (FAPI), or choline is observed in normal thyroid or usually signifies a benign thyroid abnormality, a heterogeneous or focal uptake is associated with malignant lesions in up to 19.7% of patients. The PET/CTs utilizing these ligands are characterized by decreased diagnostic sensitivity for detection of thyroid cancer metastases compared with cross-sectional imaging or 18-fluorodeoxyglucose PET/CT but are highly specific for detection of a subset of thyroid cancers characterized by a high target protein expression. Increased uptake of radiolabeled ligands targeting SSTR2, PSMA, FAPI, integrin αvβ3, and minigastrin can be used for patient selection for peptide receptor radionuclide therapy (PRRT). PRRT can be applied in clinical trials and/or off-label for patients with advanced radioactive iodine-refractory thyroid cancer who have limited treatment options or for medullary thyroid carcinoma of neuroendocrine origin. The PRRT-induced disease control rate approaches 60% and PRRT is well tolerated with limited side effects. Efficacy could be improved with careful patient selection based on the expression of molecular targets and their function, quantified by standard uptake values in diagnostic PET/CT imaging. Adopting an individualized dosimetry-based approach and synthesizing ligands with better tumor retention and residence time may help optimize treatment response.</p>","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":"e2417-e2428"},"PeriodicalIF":5.1,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671779/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148633395","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pancreatic steatosis is not associated with impaired insulin secretion among individuals with diabetes. 在糖尿病患者中,胰腺脂肪变性与胰岛素分泌受损无关。
IF 5.1
The Journal of clinical endocrinology and metabolism Pub Date : 2026-10-16 DOI: 10.1210/clinem/dgag416
Aleksi Laitinen, Katarina Johansson, Aki J Käräjämäki, Annemari Käräjämäki, Jenny Häggblom, Liisa Hakaste, Samu Kurki, Kaj Lahti, Emma Ahlqvist, Tiinamaija Tuomi
{"title":"Pancreatic steatosis is not associated with impaired insulin secretion among individuals with diabetes.","authors":"Aleksi Laitinen, Katarina Johansson, Aki J Käräjämäki, Annemari Käräjämäki, Jenny Häggblom, Liisa Hakaste, Samu Kurki, Kaj Lahti, Emma Ahlqvist, Tiinamaija Tuomi","doi":"10.1210/clinem/dgag416","DOIUrl":"https://doi.org/10.1210/clinem/dgag416","url":null,"abstract":"<p><p>Aims We aimed to assess pancreatic and hepatic steatosis (PS/HS) association with residual insulin secretion and insulin resistance in individuals with diabetes. Methods Pancreatic/liver fat fractions (PFF/LFF) in magnetic resonance imaging (MRI) were used as a proxy for PS and HS in 170 participants. Insulin secretion was estimated by HOMA2-B, C-peptide response 6 minutes after an i.v. bolus of 0.5 mg glucagon (ΔC-Pe), and fasting proinsulin to C-peptide ratio (PI:C). Insulin resistance was estimated by HOMA2-IR, Adipo-IR and i.v. insulin (0.05 IU/kg) tolerance test. Results PFF did not correlate with measures of insulin secretion but it correlated with fasting indices of insulin resistance among women (HOMA2-IR, R = 0.26, p = 0.017; Adipo-IR, R = 0.29, p = 0.007). Both LFF and PFF correlated with BMI (R = 0.43 & R = 0.34, respectively, p < 0.001) but not with each other (R = 0.10, p = 0.215). Unlike PS, HS was associated with higher HOMA2-IR, Adipo-IR, HOMA2-B, PI:C and glucagon, after adjustment with confounders. Participants with PS without HS had lower fasting C-peptide, HOMA2-IR, HOMA2-B, Adipo-IR, glucagon and triglycerides (p < 0.05) compared to those having HS without PS. Cluster-based subgroups of diabetes did not differ in PF (p = 0.071). Conclusions Within this cohort, pancreatic fat was more strongly associated with adiposity than with the investigated measures of β-cell function or insulin resistance.</p>","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":""},"PeriodicalIF":5.1,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149198864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correction to: "Impact of Subtype Variability on Clinical Features in Papillary Thyroid Cancer". 更正:“亚型变异对甲状腺乳头状癌临床特征的影响”。
IF 5.1
The Journal of clinical endocrinology and metabolism Pub Date : 2026-10-16 DOI: 10.1210/clinem/dgag339
{"title":"Correction to: \"Impact of Subtype Variability on Clinical Features in Papillary Thyroid Cancer\".","authors":"","doi":"10.1210/clinem/dgag339","DOIUrl":"10.1210/clinem/dgag339","url":null,"abstract":"","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":"e2449"},"PeriodicalIF":5.1,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671777/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148836106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Focal congenital hyperinsulinism: spontaneous glycemic improvement before surgery. 局灶性先天性高胰岛素血症:术前自发血糖改善。
IF 5.1
The Journal of clinical endocrinology and metabolism Pub Date : 2026-10-16 DOI: 10.1210/clinem/dgag227
Jean-Baptiste Arnoux, Claire Mayer, Imen Jhaouat, Cécile Saint-Martin, Claire-Marine Bérat, Lucile Altenburger, Anaïs Brassier, Juliette Bouchereau, Stefania Querciagrossa, Olivier Bustarret, Myriam Jugie, Patrick Barbet, Cyrielle Aveline, Françoise Montravers, Carmen Capito, Pascale de Lonlay
{"title":"Focal congenital hyperinsulinism: spontaneous glycemic improvement before surgery.","authors":"Jean-Baptiste Arnoux, Claire Mayer, Imen Jhaouat, Cécile Saint-Martin, Claire-Marine Bérat, Lucile Altenburger, Anaïs Brassier, Juliette Bouchereau, Stefania Querciagrossa, Olivier Bustarret, Myriam Jugie, Patrick Barbet, Cyrielle Aveline, Françoise Montravers, Carmen Capito, Pascale de Lonlay","doi":"10.1210/clinem/dgag227","DOIUrl":"10.1210/clinem/dgag227","url":null,"abstract":"<p><strong>Context: </strong>Congenital hyperinsulinism (CHI) is the most common genetic cause of hypoglycemia in infants. Severe CHI may result from a focal pancreatic lesion (FoCHI), which can be surgically removed, although postoperative complications may occur, particularly after pancreatic head resections.</p><p><strong>Objective: </strong>To describe the spontaneous glycemic evolution of FoCHI before surgery and to assess the potential role of conservative management.</p><p><strong>Methods: </strong>We retrospectively reviewed medical records of patients with FoCHI managed at a single referral center. Congenital hyperinsulinism severity was classified according to the need for continuous gastric tube feeding (TF) to maintain glycemic control prior to surgery, defining a TF group and a no-tube feeding (NTF) group.</p><p><strong>Results: </strong>Thirty-nine patients were included: 12 (30.8%) in the NTF group and 27 (69.2%) in the TF group. Patients in the NTF group were diagnosed later (P = .022), had less severe initial hypoglycemia (P = .003), and 4/12 did not undergo surgery and were cured of hypoglycemia before 6 years of age. We developed an exploratory predictive score for early disease evolution, showing a specificity of 97%. Surgery was curative in most patients (96.3% in the TF group, 100% in the NTF group). Long-term complications were uncommon (8.6% vs 0%) and consisted exclusively of exocrine pancreatic insufficiency, occurring only after pancreatic head surgery (15.8%).</p><p><strong>Conclusion: </strong>Approximately 30% of infants with FoCHI demonstrated rapid early improvement. While surgery remains the standard curative treatment, a conservative approach may be considered in selected infants with pancreatic head lesions who show early favorable glycemic evolution, potentially after surgical exploration to assess postoperative risk.</p>","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":"3032-3041"},"PeriodicalIF":5.1,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148221632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Insulin pump use and hospital outcomes in adults with type 1 diabetes: a 2022 Nationwide Readmissions Database analysis. 成人1型糖尿病患者胰岛素泵使用和医院预后:2022年全国再入院数据库分析
IF 5.1
The Journal of clinical endocrinology and metabolism Pub Date : 2026-10-16 DOI: 10.1210/clinem/dgag307
Reshma Reguram, Rushi Shah, Tanisha Vora, Camelia Arsene, Geetha Krishnamoorthy, Sudhanva Neti, Durga Yerasuri, F N U Manas, Wael Taha
{"title":"Insulin pump use and hospital outcomes in adults with type 1 diabetes: a 2022 Nationwide Readmissions Database analysis.","authors":"Reshma Reguram, Rushi Shah, Tanisha Vora, Camelia Arsene, Geetha Krishnamoorthy, Sudhanva Neti, Durga Yerasuri, F N U Manas, Wael Taha","doi":"10.1210/clinem/dgag307","DOIUrl":"10.1210/clinem/dgag307","url":null,"abstract":"<p><strong>Context: </strong>Adults with type 1 diabetes (T1D) experience substantial inpatient morbidity, including frequent readmissions and measurable in-hospital mortality, contributing significantly to US health care utilization.</p><p><strong>Objective: </strong>To evaluate the association between insulin delivery modality and 30-day readmission and in-hospital mortality among adults hospitalized with T1D.</p><p><strong>Design, setting, and participants: </strong>Retrospective cohort study using the 2022 Nationwide Readmissions Database, a nationally representative all-payer inpatient database. Adults (≥18 years) hospitalized with T1D were identified using ICD-10-CM codes. Index admissions were defined as the first eligible hospitalization per patient within the calendar year; December and elective admissions were excluded to ensure complete 30-day follow-up.</p><p><strong>Exposure: </strong>Insulin pump therapy (± injectable insulin) vs injectable insulin only.</p><p><strong>Main outcomes and measures: </strong>Primary outcome was time to first all-cause readmission within 30 days. Secondary outcomes included in-hospital mortality during index admission and readmission. Survey-weighted Cox and logistic regression models estimated adjusted hazard ratios (aHRs) and odds ratios (aORs).</p><p><strong>Results: </strong>The weighted cohort included 230 958 adult index admissions. Thirty-day readmission occurred in 14.64% of pump users vs 20.63% of injectable-only users. After multivariable adjustment, pump therapy was associated with lower readmission risk (aHR, 0.77; 95% CI, 0.74-0.81; P < .001). In secondary analyses, this association persisted for 90-day readmission outcomes. In-hospital mortality during index admission was lower among pump users (0.90% [95% CI, 0.78-1.05]) compared with injectable-only users (1.31% [95% CI, 1.21-1.42]). Pump therapy remained associated with reduced mortality (aOR, 0.78; 95% CI, 0.66-0.93; P = .006).</p><p><strong>Conclusion: </strong>In this nationally representative cohort, insulin pump therapy was independently associated with lower 30-day readmission and in-hospital mortality among adults with T1D.</p>","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":"3269-3276"},"PeriodicalIF":5.1,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148623789","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Post-transplant diabetes mellitus requiring insulin identifies high-risk outcomes after solid organ transplantation. 移植后需要胰岛素的糖尿病确定实体器官移植后的高危结局。
IF 5.1
The Journal of clinical endocrinology and metabolism Pub Date : 2026-10-16 DOI: 10.1210/clinem/dgag217
Rossana Caldara, Davide Catarinella, Chiara Gremizzi, Stefano Tentori, Vera Paloschi, Sarah Williford, Francesca Rusconi, Lorenzo Piemonti
{"title":"Post-transplant diabetes mellitus requiring insulin identifies high-risk outcomes after solid organ transplantation.","authors":"Rossana Caldara, Davide Catarinella, Chiara Gremizzi, Stefano Tentori, Vera Paloschi, Sarah Williford, Francesca Rusconi, Lorenzo Piemonti","doi":"10.1210/clinem/dgag217","DOIUrl":"10.1210/clinem/dgag217","url":null,"abstract":"<p><strong>Aims/hypothesis: </strong>Post-transplant diabetes mellitus (PTDM) is a common complication after solid organ transplantation, but its long-term prognostic significance and the clinical implications of post-transplant antidiabetic treatment patterns remain incompletely understood. We aimed to evaluate PTDM incidence, determinants, treatment patterns, and associated long-term outcomes using large-scale real-world data.</p><p><strong>Methods: </strong>We analyzed adult solid organ transplant recipients without preexisting diabetes within the TriNetX Global Collaborative Network (2006-2024). PTDM incidence and risk factors were assessed using time-to-event analyses. Clinical outcomes were evaluated using propensity score-matched cohorts. Antidiabetic treatment patterns were characterized using treatment pathway analyses and outcomes were compared according to insulin vs non-insulin-based management among recipients with PTDM.</p><p><strong>Results: </strong>Among 263 325 recipients, PTDM incidence increased over time and varied markedly by transplanted organ, transplant era, and geographic region. Older age, male sex, adiposity, baseline dysglycemia, dyslipidemia, reduced renal function, and immunosuppressive exposure were independently associated with PTDM. After matching, PTDM was associated with higher long-term risks of mortality, graft failure, graft rejection, cardiovascular events, infections, malignancies, and renal-metabolic complications, whereas early post-transplant risks were largely comparable. Antidiabetic treatment patterns were heterogeneous and organ-specific. Insulin-treated PTDM recipients experienced substantially worse graft and patient outcomes than non-insulin-treated recipients, despite similar long-term glycemic control, indicating that insulin requirement identifies a high-risk metabolic phenotype. Findings were consistent in single organ transplant-specific sensitivity analyses.</p><p><strong>Conclusion/interpretation: </strong>PTDM acts as a chronic modifier of long-term outcomes after solid organ transplantation. Insulin-treated PTDM identifies a subgroup at particularly high risk, underscoring the need for improved metabolic risk stratification and tailored management strategies in transplant recipients.</p>","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":"3128-3142"},"PeriodicalIF":5.1,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671767/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148020498","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Retatrutide and lipid and metabolite profiles in participants with obesity with or without type 2 diabetes. 伴有或不伴有2型糖尿病的肥胖患者的利特鲁肽、脂质和代谢物谱
IF 5.1
The Journal of clinical endocrinology and metabolism Pub Date : 2026-10-16 DOI: 10.1210/clinem/dgag201
Mackenzie J Pearson, Jill A Willency, Yanzhu Lin, Arkan Abadi, Mark L Hartman, Tamer Coskun, Giacomo Ruotolo, Kevin L Duffin, Axel Haupt, Christopher B Newgard, Valentina Pirro
{"title":"Retatrutide and lipid and metabolite profiles in participants with obesity with or without type 2 diabetes.","authors":"Mackenzie J Pearson, Jill A Willency, Yanzhu Lin, Arkan Abadi, Mark L Hartman, Tamer Coskun, Giacomo Ruotolo, Kevin L Duffin, Axel Haupt, Christopher B Newgard, Valentina Pirro","doi":"10.1210/clinem/dgag201","DOIUrl":"10.1210/clinem/dgag201","url":null,"abstract":"<p><strong>Context: </strong>In phase 2 trials, retatrutide reduced body weight, hemoglobin A1c and improved the lipid profiles of participants living with obesity, with and without T2D.</p><p><strong>Objective: </strong>Assess plasma metabolome and lipidome changes associated with retatrutide treatment.</p><p><strong>Methods: </strong>Metabolomics and lipidomics were performed in fasting samples from 2 randomized, placebo-controlled phase 2 trials as a post hoc exploratory analysis. Participants living with obesity with and without T2D were treated for 36 and 48 weeks, respectively. There were 282 and 213 participants in the obesity and T2D trials, respectively and the intervention(s) received were: Obesity trial: retatrutide (1, 4, 8, and 12 mg) or placebo; T2D trial: retatrutide (0.5, 4, 8, and 12 mg) or placebo or dulaglutide (1.5 mg). The main outcome measure(s) were changes in metabolite and lipid levels with retatrutide treatment against baseline levels and placebo using multiplicity correction.</p><p><strong>Results: </strong>At both primary and study endpoints for both populations, higher doses of retatrutide were associated with changes in a cluster of metabolites comprising 3-hydroxybutyrate, acetylcarnitine, free carnitine, and fatty acid-derived long-chain acylcarnitines. Mediation analyses suggested that changes in these biomarkers mediated 23.2% of the weight reduction response in participants without T2D and that this mediation was blunted to 12.7% in participants with T2D. Retatrutide treatment was also associated with changes in metabolites associated with insulin resistance, including branched-chain amino acids and their catabolic products, 2-aminoadipic acid, 2-hydroxybutyrate, urate, and triglycerides enriched in short-chain and saturated acyl side chains. These changes were found in both study populations and sustained across study endpoints.</p><p><strong>Conclusion: </strong>Retatrutide was associated with changes in 2 metabolic clusters related to fatty acid oxidation and insulin resistance in a direction associated with improved metabolic health and reduced cardiovascular risk.</p>","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":"3217-3228"},"PeriodicalIF":5.1,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671771/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147944764","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Response to letter to the editor from Chertok Shacham: "Approach to the patient with thyroid storm". 对Chertok shachham致编辑的信的回应:“甲状腺风暴患者的方法”。
IF 5.1
The Journal of clinical endocrinology and metabolism Pub Date : 2026-10-16 DOI: 10.1210/clinem/dgag305
Peter A Kopp, Ilaria Giordani, Ulla Feldt-Rasmussen, Aurélie Forget-Renaud
{"title":"Response to letter to the editor from Chertok Shacham: \"Approach to the patient with thyroid storm\".","authors":"Peter A Kopp, Ilaria Giordani, Ulla Feldt-Rasmussen, Aurélie Forget-Renaud","doi":"10.1210/clinem/dgag305","DOIUrl":"10.1210/clinem/dgag305","url":null,"abstract":"","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":"e2443-e2444"},"PeriodicalIF":5.1,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148633448","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Correction to: "BRAF-induced EHF Expression Affects TERT in Aggressive Papillary Thyroid Cancer". 更正:“braf诱导的EHF表达影响侵袭性甲状腺乳头状癌的TERT”。
IF 5.1
The Journal of clinical endocrinology and metabolism Pub Date : 2026-10-16 DOI: 10.1210/clinem/dgag353
{"title":"Correction to: \"BRAF-induced EHF Expression Affects TERT in Aggressive Papillary Thyroid Cancer\".","authors":"","doi":"10.1210/clinem/dgag353","DOIUrl":"10.1210/clinem/dgag353","url":null,"abstract":"","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":"e2445-e2447"},"PeriodicalIF":5.1,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671780/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148877068","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The extra X chromosome and autoimmune susceptibility in Klinefelter syndrome. 克氏综合征的额外X染色体与自身免疫易感性
IF 5.1
The Journal of clinical endocrinology and metabolism Pub Date : 2026-10-16 DOI: 10.1210/clinem/dgag268
Elisa Gatta, Andrea Delbarba, Virginia Maltese, Caterina Buoso, Carlo Cappelli
{"title":"The extra X chromosome and autoimmune susceptibility in Klinefelter syndrome.","authors":"Elisa Gatta, Andrea Delbarba, Virginia Maltese, Caterina Buoso, Carlo Cappelli","doi":"10.1210/clinem/dgag268","DOIUrl":"10.1210/clinem/dgag268","url":null,"abstract":"<p><strong>Objective: </strong>To systematically evaluate and quantitatively synthesize the association between Klinefelter syndrome (KS) (47,XXY karyotype) and autoimmune susceptibility.</p><p><strong>Methods: </strong>PubMed/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.</p><p><strong>Results: </strong>Eight 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.</p><p><strong>Conclusion: </strong>KS 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.</p>","PeriodicalId":520805,"journal":{"name":"The Journal of clinical endocrinology and metabolism","volume":" ","pages":"3296-3305"},"PeriodicalIF":5.1,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13671786/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148383537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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