Journal of Clinical Endocrinology & Metabolism最新文献

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Immune Checkpoint Inhibitor Therapy for Aggressive Pituitary Neuroendocrine Tumors. 免疫检查点抑制剂治疗侵袭性垂体神经内分泌肿瘤。
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-10-16 DOI: 10.1210/clinem/dgaf178
Andrew L Lin, Vasilisa Rudneva, Adam Newton, Nazanin K Majd, Rajiv Magge, Soma Sengupta, Bernard Goichot, Anna Piotrowski, Igor Gavrilovic, Odelia Cooper, Marc Rosenblum, Thomas Kaley, Ingo Mellinghoff, Robert J Young, Mark T A Donoghue, Viviane Tabar, Eliza B Geer
{"title":"Immune Checkpoint Inhibitor Therapy for Aggressive Pituitary Neuroendocrine Tumors.","authors":"Andrew L Lin, Vasilisa Rudneva, Adam Newton, Nazanin K Majd, Rajiv Magge, Soma Sengupta, Bernard Goichot, Anna Piotrowski, Igor Gavrilovic, Odelia Cooper, Marc Rosenblum, Thomas Kaley, Ingo Mellinghoff, Robert J Young, Mark T A Donoghue, Viviane Tabar, Eliza B Geer","doi":"10.1210/clinem/dgaf178","DOIUrl":"10.1210/clinem/dgaf178","url":null,"abstract":"<p><strong>Context: </strong>Pituitary neuroendocrine tumors (PitNETs) that progress following surgery and radiotherapy are in need of additional treatment options. Responses to immune checkpoint inhibitors (ICIs) have been described; however, the feasibility of ICI therapy and biomarkers of response have not been formally assessed.</p><p><strong>Objective: </strong>To evaluate the activity of ICI as a treatment for PitNETs.</p><p><strong>Methods: </strong>We performed a single-center, prospective, phase 2 trial investigating the activity of ipilimumab and nivolumab in patients with PitNETs. The primary endpoint was objective response using the iRANO response criteria. We then explored genetic biomarkers of response to ICIs in 13 patients with PitNETs who were treated with ICIs, on or outside of the trial.</p><p><strong>Results: </strong>Ten patients with a PitNET were enrolled, including 5 corticotroph, 4 lactotroph, and 1 somatotroph tumor, of which 9/10 (4 metastatic and 5 nonmetastatic) patients were evaluable for the primary endpoint. While no objective responses were observed, tumor shrinkage was seen in 2/9 patients. In a biomarker discovery cohort, comprising 7 tumors treated on trial and 6 tumors treated off trial, temozolomide hypermutation, and mismatch repair deficiency (MMRd) were associated with immunological response. In 3 tumors sequenced pre- and post-ICI treatment, we identified evidence of immunoediting, characterized by loss of MMRd and/or a decrease in tumor mutational burden.</p><p><strong>Conclusion: </strong>This study demonstrates the safety and feasibility of ICI treatment in aggressive PitNETs. We also identified MMRd and temozolomide hypermutation as potential biomarkers of response to ICI. Overall, our data suggest that ICIs might provide an additional treatment option for PitNET; this should be evaluated more broadly in future studies.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"3066-3073"},"PeriodicalIF":5.1,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12527438/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143665249","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
New Insights into the Clinical Characterization of SDHAF2-related Familial Paraganglioma Syndrome. sdhaf2相关家族副神经节瘤综合征临床特征的新见解
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-10-16 DOI: 10.1210/clinem/dgaf149
Antia Fernandez-Pombo, Zulema Nogareda-Seoane, Jose Manuel Cameselle-Teijeiro, Ana Ecenarro-Montiel, Cecilia Vieira-Leite, Gemma Rodriguez-Carnero, Noelia Otero-Mato, Virginia Pubul-Nuñez, Marcos Pazos-Couselo, Lourdes Loidi, Jose Manuel Cabezas-Agricola
{"title":"New Insights into the Clinical Characterization of SDHAF2-related Familial Paraganglioma Syndrome.","authors":"Antia Fernandez-Pombo, Zulema Nogareda-Seoane, Jose Manuel Cameselle-Teijeiro, Ana Ecenarro-Montiel, Cecilia Vieira-Leite, Gemma Rodriguez-Carnero, Noelia Otero-Mato, Virginia Pubul-Nuñez, Marcos Pazos-Couselo, Lourdes Loidi, Jose Manuel Cabezas-Agricola","doi":"10.1210/clinem/dgaf149","DOIUrl":"10.1210/clinem/dgaf149","url":null,"abstract":"<p><strong>Background: </strong>The clinical characterization of SDHAF2-related familial paraganglioma syndrome remains elusive. The aim of this study is to contribute to the knowledge of this syndrome with valuable new information.</p><p><strong>Methods: </strong>A total of 56 individuals with the p.(Gly78Arg) variant in the SDHAF2 gene were prospectively evaluated. Of the 33 subjects who developed paragangliomas (PGLs)/pheochromocytomas (PCs) throughout follow-up, clinical, biochemical, and imaging data were collected. [68Ga]Ga-DOTA-TOC and [18F]DOPA positron emission tomography/computed tomography (PET/CT) scans were carried out on a subset of 22 patients with PGLs/PCs to compare their accuracy; surgical specimens (n = 13) were microscopically evaluated to elucidate their potential malignant behavior.</p><p><strong>Results: </strong>Of the 33 patients (58.9%) with SDHAF2-related tumors, 17 (51.5%) were women, with a mean age at diagnosis of 38.6 ± 17.2 years. Tumor development was found to be inherited paternally in all subjects. All the patients evaluated except 1 showed head and neck PGLs. Eleven patients (33.3%) showed mediastinal and abdominal extra-adrenal PGLs and 2 patients presented PCs. Multifocality was observed in 26 subjects (78.8%). Sixteen patients (48.5%) were asymptomatic at diagnosis. Only 4 patients with PGLs/PCs showed normetanephrine or 3-methoxytyramine secretion. Metastatic disease was observed in 2 patients (6.1%). Grading System for Adrenal Pheochromocytoma and Paraganglioma score was ≥3 in 84.6% of tumors and Pheochromocytoma of the Adrenal Gland Scaled Score was ≥4 in 69.2%. [68Ga]Ga-DOTA-TOC PET/CT showed a greater detection rate (95.7%) of multifocal PGLs and metastatic lesions than [18F]DOPA PET/CT (79.3%), as well as higher mean maximum standardized uptake value.</p><p><strong>Conclusion: </strong>The current study offers new insights into the phenotypic characterization of SDHAF2-related paraganglioma syndrome including the development of extra-cervical PGLs and metastatic transformation.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3635-e3647"},"PeriodicalIF":5.1,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12527445/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143626725","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Age at Menarche and Coronary Artery Disease Risk: Divergent Associations With Different Sources of Variation. 初潮年龄与冠状动脉疾病风险:不同变异来源的不同关联
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-10-16 DOI: 10.1210/clinem/dgaf141
Ambreen Sonawalla, Daniel I Chasman, Yee-Ming Chan
{"title":"Age at Menarche and Coronary Artery Disease Risk: Divergent Associations With Different Sources of Variation.","authors":"Ambreen Sonawalla, Daniel I Chasman, Yee-Ming Chan","doi":"10.1210/clinem/dgaf141","DOIUrl":"10.1210/clinem/dgaf141","url":null,"abstract":"<p><strong>Background: </strong>In women, both earlier and later age at menarche (AAM) are associated with increased risk of coronary artery disease (CAD). This study examined if the relationship of AAM with CAD and CAD risk factors differs for different underlying sources of variation in AAM-specifically, variation that is attributable to common genetic variants, as represented by a polygenic score (PGS), vs variation in AAM that is independent of the PGS (eg, from environment, rare genetic variants).</p><p><strong>Methods: </strong>Primary analyses were conducted on data from 201 037 women in the UK Biobank and validation studies on data from 23 268 women in the Women's Genome Health Study. For each individual, a PGS for AAM was calculated; then, 2 variables were estimated from linear regression models: genetically predicted AAM (the estimated AAM for each woman solely due to the effects of common genetic variants) and PGS-adjusted AAM (the estimated AAM for each woman solely due to factors other than the PGS). Logistic and linear regression with linear splines were then used to study the relationships of these variables with CAD and CAD risk factors.</p><p><strong>Results: </strong>Genetically predicted AAM demonstrated linear or roughly linear relationships with CAD and CAD risk factors. In contrast, PGS-adjusted AAM demonstrated a U-shaped relationship with CAD, hemoglobin A1c, triglycerides, high-density lipoprotein cholesterol, and waist-hip ratio.</p><p><strong>Conclusion: </strong>These results are consistent with earlier AAM causally increasing risk of CAD but suggest that later AAM itself does not cause increased risk of CAD; rather, sources of variation in AAM other than common genetic variants can cause both later AAM and increased risk of CAD. Dysglycemia, dyslipidemia, and central adiposity are candidate mediators of the association of later AAM with increased risk of CAD.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"3097-3107"},"PeriodicalIF":5.1,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12527448/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587894","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Secular Trends in Hip Fracture Mortality and Predictors of Mortality From the NSQIP Database. 来自NSQIP数据库的髋部骨折死亡率的长期趋势和死亡率预测因素。
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-10-16 DOI: 10.1210/clinem/dgaf087
Caline Rhayem, Aya Ghosn, Zeinab Ali Issa, Joudie Sahar Alwan, Hani Dimassi, Rachid Haidar, Ghada El-Hajj Fuleihan
{"title":"Secular Trends in Hip Fracture Mortality and Predictors of Mortality From the NSQIP Database.","authors":"Caline Rhayem, Aya Ghosn, Zeinab Ali Issa, Joudie Sahar Alwan, Hani Dimassi, Rachid Haidar, Ghada El-Hajj Fuleihan","doi":"10.1210/clinem/dgaf087","DOIUrl":"10.1210/clinem/dgaf087","url":null,"abstract":"<p><strong>Context: </strong>Hip fractures incur high morbidity and mortality. Data on secular trends in mortality from hip fractures and risk predictive models are scarce.</p><p><strong>Objective: </strong>We aim to describe secular trends in 30-day mortality after hip fracture surgery from the 2011-2017 National Surgical Quality Improvement Program database, identify preoperative and on-discharge predictors of 30-day mortality, and develop risk calculators.</p><p><strong>Methods: </strong>We calculated yearly proportions of deaths and examined survival using Kaplan-Meier curves. We implemented logistic regressions models, using SPSS and created calculators using Excel.</p><p><strong>Results: </strong>In 84 824 cases of hip fracture surgery, the overall 30-day mortality was 6.8%. It decreased from 8.1% to 6.5% between 2011 and 2017 (P < .001). Significant preoperative predictors of 30-day mortality on admission were male gender, age, lower body mass index, White race, poorer functional health status, higher creatinine, lower hematocrit, >10% weight loss in the past 6 months, congestive heart failure within 30 days before surgery, and chronic obstructive pulmonary disease. Predictors on discharge included preoperative predictors with the exception of White race, hematocrit, and >10% weight loss in the past 6 months, and the addition of unplanned intubation, cerebrovascular accident, myocardial infarction, and pneumonia. The parsimonious preoperative risk calculator for mortality had 10 variables, an area under the curve (AUC) of 0.739, and a model fit R2 of 0.9716. The on-discharge calculator had 11 variables, an AUC of 0.800, and an R2 of 0.9924.</p><p><strong>Conclusion: </strong>Thirty-day mortality after hip fracture surgery decreased significantly from 2011 to 2017. Readily available clinical risk factors predict mortality preoperatively and on discharge. While most predictors are nonmodifiable, the calculators may better inform clinical decision-making.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"3210-3219"},"PeriodicalIF":5.1,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12527425/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143469731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Endocrine Adverse Reactions of Tyrosine Kinase Inhibitors in Combination With Immune Checkpoint Inhibitors. 酪氨酸激酶抑制剂联合免疫检查点抑制剂的内分泌不良反应。
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-10-16 DOI: 10.1210/clinem/dgaf117
Wen Shao, Kaiwei Yang, Difei Lu, Ying Gao, Junqing Zhang, Yang Zhang
{"title":"Endocrine Adverse Reactions of Tyrosine Kinase Inhibitors in Combination With Immune Checkpoint Inhibitors.","authors":"Wen Shao, Kaiwei Yang, Difei Lu, Ying Gao, Junqing Zhang, Yang Zhang","doi":"10.1210/clinem/dgaf117","DOIUrl":"10.1210/clinem/dgaf117","url":null,"abstract":"<p><strong>Background: </strong>Tyrosine kinase inhibitors (TKIs) and immune checkpoint inhibitors (ICIs) were recognized to cause endocrine adverse reactions (EARs). However, combination therapy-associated EARs are still unclear.</p><p><strong>Methods: </strong>This was a retrospective study based on the FDA Adverse Event Reporting System. We identified 938 464 cases of all adverse events related to 3 types of treatments. A total of 22 275 cases were EARs and divided into TKIs (n = 9181), ICIs (n = 11 363), and TKIs + ICIs group (n = 1731).</p><p><strong>Results: </strong>The incidence of EARs was the highest in TKIs + ICIs followed by the ICIs and TKIs group. The TKIs + ICIs group had a higher risk of hypothyroidism than the ICIs group [odds ratio (OR) 1.47, 95% confidence interval (CI) 1.28-1.69] and a lower risk compared to the TKIs group (OR 0.68, 95% CI 0.58-0.79). The TKIs + ICIs group presented a higher risk of type 1 diabetes mellitus compared to the TKIs group (OR 26.61, 95% CI 18.60-38.07) but a lower risk compared to the ICIs group (OR 0.63, 95% CI 0.47-0.84). The risk of hypoglycemia was approximately 2.77 times greater in the TKIs + ICIs group than in the ICIs group (OR 2.77, 95% CI 1.95-3.95) and was also higher in the TKIs group compared to the ICIs group (OR 3.44, 95% CI 2.93-4.03). Compared to the ICIs group, the TKIs + ICIs group did not display a higher risk of pituitary dysfunction and primary adrenal insufficiency. The mortality risk of the TKIs + ICIs group was comparable to the ICIs group but was significantly lower than the TKIs group.</p><p><strong>Conclusion: </strong>EARs were more common in TKIs + ICIs therapy. The distribution of EARs in different glands varied among combination therapy and monotherapy. Combination therapy-associated EARs did not increase the risk of mortality.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3857-e3865"},"PeriodicalIF":5.1,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143477199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Exploring the Potential of Weekly Parathyroid Hormone Therapy for Hypoparathyroidism. 探讨每周甲状旁腺激素治疗甲状旁腺功能减退的可能性。
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-10-16 DOI: 10.1210/clinem/dgaf024
Gaia Tabacco
{"title":"Exploring the Potential of Weekly Parathyroid Hormone Therapy for Hypoparathyroidism.","authors":"Gaia Tabacco","doi":"10.1210/clinem/dgaf024","DOIUrl":"10.1210/clinem/dgaf024","url":null,"abstract":"","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3899-e3900"},"PeriodicalIF":5.1,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143015376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
High Ionized Calcium in the General Population and Risk of Primary Hyperparathyroidism. 普通人群中高离子钙与原发性甲状旁腺功能亢进的风险
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-10-16 DOI: 10.1210/clinem/dgaf106
Camilla J Kobylecki, Børge G Nordestgaard, Shoaib Afzal
{"title":"High Ionized Calcium in the General Population and Risk of Primary Hyperparathyroidism.","authors":"Camilla J Kobylecki, Børge G Nordestgaard, Shoaib Afzal","doi":"10.1210/clinem/dgaf106","DOIUrl":"10.1210/clinem/dgaf106","url":null,"abstract":"<p><strong>Background: </strong>Although it is generally held that in otherwise healthy individuals, primary hyperparathyroidism is the most likely cause of persistent hypercalcemia, solid research supporting this assumption is absent. We aimed to examine the relative and absolute risk of primary hyperparathyroidism associated with an incidental high ionized calcium in the general population.</p><p><strong>Methods: </strong>We used the Danish Copenhagen General Population Study, a prospective cohort study with inclusion in 2003-2015, to investigate the association of ionized calcium on continuous and categorical scales with primary hyperparathyroidism using Cox regression and competing-risk regression. Hazard ratios and absolute 10-year risks of primary hyperparathyroidism were calculated.</p><p><strong>Results: </strong>In 106 588 individuals, 2497 (2.5%) had moderately high (1.33-1.40 mmol/L) or high (>1.40 mmol/L) plasma ionized calcium at baseline and 441 (0.4%) were diagnosed with primary hyperparathyroidism during follow-up. The multivariable adjusted hazard ratios for primary hyperparathyroidism for moderately high and high plasma ionized calcium vs low normal ionized calcium were 65 (95% confidence interval: 46-92) and 350 (251-489). Stratified on sex, the corresponding hazard ratios were 63 (42-95) and 326 (221-482) for women and 73 (37-145) and 490 (256-935) for men. For women and men above 65 years, absolute risks of primary hyperparathyroidism were 7.9% and 3.3% in those with moderately high plasma ionized calcium and 44% and 21% in those with high plasma ionized calcium.</p><p><strong>Conclusion: </strong>High ionized calcium found in 1:40 in the general population conferred absolute 10-year risks of primary hyperparathyroidism of up to 44%. These findings support further diagnostic workup following an incidentally observed high plasma ionized calcium in otherwise healthy individuals.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3878-e3885"},"PeriodicalIF":5.1,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pain, Quality of Life, and Mental Health in Adults with X-linked Hypophosphatemia: A Cross-sectional Study. 成人x连锁低磷血症患者的疼痛、生活质量和心理健康:一项横断面研究
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-10-16 DOI: 10.1210/clinem/dgaf104
Marta Diaz-delCastillo, Rasmus Bundgaard Espersen, Signe Sparre Beck-Nielsen, Lars Rejnmark, Anne-Marie Heegaard
{"title":"Pain, Quality of Life, and Mental Health in Adults with X-linked Hypophosphatemia: A Cross-sectional Study.","authors":"Marta Diaz-delCastillo, Rasmus Bundgaard Espersen, Signe Sparre Beck-Nielsen, Lars Rejnmark, Anne-Marie Heegaard","doi":"10.1210/clinem/dgaf104","DOIUrl":"10.1210/clinem/dgaf104","url":null,"abstract":"<p><strong>Objective: </strong>Hereditary hypophosphatemic disorders such as X-linked hypophosphatemia (XLH) are rare phosphate wasting disorders that cause abnormal bone mineralization, which manifests as bone deformities and dental problems. Pain, stiffness, and fatigue are the main symptoms reported by adult patients with XLH, interfering with their quality of life and activities of daily living. Here we provide a comprehensive evaluation of pain and health related quality of life in patients with XLH.</p><p><strong>Design and methods: </strong>In this cross-sectional study, 49 adult patients with XLH and 42 healthy sex- and age- matched control participants underwent pressure algometry to determine pain sensitivity. In addition, we collected patient-reported outcome data on pain, quality of life, and mental health through the following questionnaires: (1) Brief Pain Inventory-Short Form, (2) SF-36v2™ Health Survey, (3) painDETECT, (4) Functional Assessment of Cancer Therapy-Bone Pain, (4) Pain Catastrophizing Scale, (5) Generalized Anxiety Disorder 7 and (6) Patient Health Questionnaire 9.</p><p><strong>Results: </strong>Patients with XLH present altered skin but not bone mechanical pressure pain thresholds, which may suggest referred pain through sensitization mechanisms. Questionnaire data highlight significantly higher pain scores in patients with XLH, which correlate with depression scores. Additionally, patients with XLH report decreased quality of life and mental health, increased pain catastrophizing thinking, and anxiety.</p><p><strong>Conclusion: </strong>Our results suggest that using patient-reported outcomes is important to understand the pain phenotype and mental health in patients with XLH and can be helpful to dictate treatment aimed at improving their pain and quality of life.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3886-e3896"},"PeriodicalIF":5.1,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143450877","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Body Composition Differentiates Prediabetes Phenotype Clusters in the Diabetes Prevention Program Study. 身体成分在糖尿病预防项目研究中区分糖尿病前期表型簇。
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-10-16 DOI: 10.1210/clinem/dgaf163
Benjamin M Stroebel, Meghana Gadgil, Kimberly A Lewis, Kayla D Longoria, Li Zhang, Elena Flowers
{"title":"Body Composition Differentiates Prediabetes Phenotype Clusters in the Diabetes Prevention Program Study.","authors":"Benjamin M Stroebel, Meghana Gadgil, Kimberly A Lewis, Kayla D Longoria, Li Zhang, Elena Flowers","doi":"10.1210/clinem/dgaf163","DOIUrl":"10.1210/clinem/dgaf163","url":null,"abstract":"<p><strong>Context: </strong>Type 2 diabetes (T2D) remains a significant public health problem, and current approaches to risk reduction fail to adequately prevent T2D in all individuals.</p><p><strong>Objective: </strong>The purpose of this study was to apply clustering methods that include metabolic risk factors and body composition measures to identify and characterize prediabetes phenotypes and their relationships with treatment arm and incident T2D.</p><p><strong>Design: </strong>Secondary analysis of the Diabetes Prevention Program clinical trial.</p><p><strong>Setting: </strong>Previously completed Diabetes Prevention Program trial.</p><p><strong>Patients or other participants: </strong>Subset of participants (n = 994) with body composition measures.</p><p><strong>Interventions: </strong>Not applicable.</p><p><strong>Main outcome measures: </strong>Unsupervised k-means clustering analysis was applied to derive the optimal number of clusters of participants based on common clinical risk factors alone or common risk factors plus more comprehensive measures of glucose tolerance and body composition.</p><p><strong>Results: </strong>Five clusters were derived from both the common clinical characteristics and the addition of comprehensive measures of glucose tolerance and body composition. Within each modeling approach, participants showed significantly different levels of individual risk factors. The clinical only model showed higher accuracy for time to T2D; however, the more comprehensive models further differentiated an overweight phenotype by overall metabolic health. For both models, the greatest differentiation in determining time to T2D was in the metformin arm of the trial.</p><p><strong>Conclusion: </strong>Data-driven clustering of patients with prediabetes allows for identification of prediabetes phenotypes at greater risk for disease progression and responses to risk reduction interventions. Further investigation into phenotypic differences in treatment response could enable better personalization of prediabetes and T2D prevention and treatment choices.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3665-e3672"},"PeriodicalIF":5.1,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12527463/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143606415","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Association of Maternal Thyroglobulin Antibody With Preterm Birth in Euthyroid Women. 甲状腺功能正常妇女的母体甲状腺球蛋白抗体与早产的关系
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-10-16 DOI: 10.1210/clinem/dgaf118
Shuai Yang, Zixuan Huang, Yong Zhang, Yanan Li, Yulai Zhou, Haixia Guan, Jianxia Fan
{"title":"Association of Maternal Thyroglobulin Antibody With Preterm Birth in Euthyroid Women.","authors":"Shuai Yang, Zixuan Huang, Yong Zhang, Yanan Li, Yulai Zhou, Haixia Guan, Jianxia Fan","doi":"10.1210/clinem/dgaf118","DOIUrl":"10.1210/clinem/dgaf118","url":null,"abstract":"<p><strong>Context: </strong>While the association between maternal thyroid peroxidase antibody (TPOAb) positivity and preterm birth (PTB) risk has been established, the association between thyroglobulin antibody (TgAb) and PTB remains unclear.</p><p><strong>Objective: </strong>This study aimed to explore the association between TgAb and PTB risk in euthyroid women.</p><p><strong>Methods: </strong>This single-center, prospective cohort study enrolled euthyroid women in the first trimester. Data on serum concentrations of thyrotropin (TSH), free thyroxine (FT4), TgAb, and TPOAb were collected. Participants were categorized into 2 groups (TgAb-negative and TgAb-positive). PTB was subtyped into spontaneous PTB (S-PTB) and medically induced PTB (MI-PTB); and into early PTB (E-PTB) and late PTB (L-PTB). Logistic regression models examined the associations between TgAb and PTB and its subtypes, with stratification by first-trimester TSH levels (0.1-2.5 mIU/L, 2.5-4.0 mIU/L).</p><p><strong>Results: </strong>This study comprised 58 247 euthyroid pregnant women. Adjusting for confounders, TgAb positivity was associated with a 16% increased risk of PTB (adjusted odds ratio (aOR) 1.16, 95% CI, 1.03-1.29; P = .01) compared to the TgAb-negative group. Specifically, TgAb positivity showed a higher risk of S-PTB and L-PTB, aOR 1.22 (95% CI, 1.06-1.39) and aOR 1.17 (95% CI, 1.04-1.32), respectively. Consistent results were observed when analyzing TgAb concentration as a continuous variable. TSH stratification analysis revealed that these associations were statistically significant only among women with TSH levels between 0.1 and 2.5 mIU/L.</p><p><strong>Conclusion: </strong>In euthyroid women, TgAb positivity was associated with a higher risk of PTB that mainly manifested as S-PTB and L-PTB. However, the clinical significance of these findings is limited.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3841-e3849"},"PeriodicalIF":5.1,"publicationDate":"2025-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494366","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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