European Journal of Endocrinology最新文献

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Overweight/obesity and gastrointestinal disease incidence in Denmark-a cohort study. 丹麦超重/肥胖与胃肠道疾病发病率-一项队列研究
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-04-30 DOI: 10.1093/ejendo/lvaf077
Sigrid Bjerge Gribsholt, Dóra Körmendiné Farkas, Peter Jepsen, Bjørn Richelsen, Henrik Toft Sørensen
{"title":"Overweight/obesity and gastrointestinal disease incidence in Denmark-a cohort study.","authors":"Sigrid Bjerge Gribsholt, Dóra Körmendiné Farkas, Peter Jepsen, Bjørn Richelsen, Henrik Toft Sørensen","doi":"10.1093/ejendo/lvaf077","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf077","url":null,"abstract":"<p><strong>Objective: </strong>Obesity is associated with various gastrointestinal (GI) conditions. Because of the epidemic rise of obesity, we examined associations between overweight/obesity and incidence of individual GI diseases.</p><p><strong>Design: </strong>Cohort study.</p><p><strong>Setting: </strong>Denmark, 1997-2018.</p><p><strong>Participants: </strong>Using nationwide healthcare registries, we identified All Danes ≥18 years with a hospital diagnosis of overweight/obesity. We created an age- and sex-matched general population comparison cohort.</p><p><strong>Exposure: </strong>A diagnosis code of overweight/obesity.</p><p><strong>Main outcomes and measures: </strong>We compared the incidence of hospital-diagnosed GI diseases from 1 year after overweight/obesity diagnosis.</p><p><strong>Results: </strong>We included 129 466 patients with overweight/obesity (70.9% female, median age 49.3 years). Their incidence rate of GI disease was 30.1 per 1000 person years (95% CI: 29.8-30.5) vs 16.7 (95% CI: 16.5-16.8) for comparators, yielding an adjusted hazard ratio (aHR) of 1.7 (95% CI: 1.7-1.7). The aHRs indicated elevated risk of all GI disease sub-types in the overweight/obesity cohort, including cholelithiasis: 2.8 (95% CI: 2.7-2.9), cholecystitis: 2.6 (95% CI: 2.4-2.8), acute pancreatitis: 2.2 (95% CI: 2.0-2.4), stomach ulcer: 2.0 (95% CI: 1.9-2.1), cirrhosis: 1.5 (95% CI: 1.3-1.7), and obesity-associated GI cancer: 1.2 (95% CI: 1.2-1.3). The aHR for any GI disease was 1.4 (95% CI: 1.4-1.5) in men and 1.9 (95% CI: 1.8-1.9) in women. Among patients 18 to <30 years, the aHR was 2.6 (95% CI: 2.5-2.7) vs 1.3 (95% CI: 1.3-1.4) among individuals ≥70 years.</p><p><strong>Conclusions and relevance: </strong>Overweight/obesity is a risk factor for a wide range of GI diseases and is expected to become an even greater clinical challenge in the future.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 5","pages":"540-548"},"PeriodicalIF":5.3,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143971820","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Non-recurrent mutations and copy number changes predominate pituitary adenoma genomes. 非复发性突变和拷贝数变化是垂体腺瘤基因组的主要特征。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-04-30 DOI: 10.1093/ejendo/lvaf086
Dipika R Mohan, Ticiana Paes, Jacobo Buelvas Mebarak, David M Meredith, Beatriz Soares, Victor Vaz, Rona S Carroll, Ursula B Kaiser, Timothy R Smith, Wenya L Bi, Antonio M Lerario, Ana Paula Abreu
{"title":"Non-recurrent mutations and copy number changes predominate pituitary adenoma genomes.","authors":"Dipika R Mohan, Ticiana Paes, Jacobo Buelvas Mebarak, David M Meredith, Beatriz Soares, Victor Vaz, Rona S Carroll, Ursula B Kaiser, Timothy R Smith, Wenya L Bi, Antonio M Lerario, Ana Paula Abreu","doi":"10.1093/ejendo/lvaf086","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf086","url":null,"abstract":"<p><strong>Objective: </strong>Pituitary adenomas (PAs) are common neoplasms. Our current understanding of the molecular basis of PA formation is incomplete. Routine implementation of targeted genomics has enabled the discovery of rare, potentially clinically actionable events.</p><p><strong>Methods: </strong>We used a cancer-focused gene panel to sequence a cohort of 171 PAs from patients who underwent surgery at Brigham and Women's Hospital from 2012 to 2020.</p><p><strong>Results: </strong>We identified known genetic variants enriched in specific PA subtypes: GNAS (somatotroph) and USP8 (Cushing's disease). Total mutational burden did not vary across adenoma subtypes; most adenomas possessed a few non-recurrent mutations in various established oncogenes and tumor suppressors. In contrast, the burden of copy number alterations varied widely across adenoma subtypes and was associated with higher MIB1 labeling index. We identified frequent deletions spanning MEN1 in prolactinomas and silent corticotroph adenomas, and subtype-specific copy number changes including 16p, 16q alterations in somatotroph adenomas without GNAS mutations. Within the corticotroph lineage, adenomas leading to Cushing's disease had few copy number alterations while silent corticotroph adenomas had numerous.</p><p><strong>Conclusions: </strong>This study highlights a role for individualized genetic events in PA formation and suggests that divergent patterns of genomic instability may facilitate tumorigenesis even within the same lineage. Taken together, we demonstrate how gene panels may illuminate novel biology in endocrine tumors.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 5","pages":"590-602"},"PeriodicalIF":5.3,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143989156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Efficacy, safety, and insulin-like growth factor I of weekly somapacitan in children with growth hormone deficiency: 3-year results from REAL4. 生长激素缺乏症儿童每周使用somapacitan的疗效、安全性和胰岛素样生长因子I: REAL4的3年结果
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-04-30 DOI: 10.1093/ejendo/lvaf096
Bradley S Miller, Joanne C Blair, Michael Højby Rasmussen, Jan Frystyk, Anders Krogh Lemminger, Aristides Maniatis, Jun Mori, Volker Böttcher, Ho-Seong Kim, Michel Polak, Reiko Horikawa
{"title":"Efficacy, safety, and insulin-like growth factor I of weekly somapacitan in children with growth hormone deficiency: 3-year results from REAL4.","authors":"Bradley S Miller, Joanne C Blair, Michael Højby Rasmussen, Jan Frystyk, Anders Krogh Lemminger, Aristides Maniatis, Jun Mori, Volker Böttcher, Ho-Seong Kim, Michel Polak, Reiko Horikawa","doi":"10.1093/ejendo/lvaf096","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf096","url":null,"abstract":"<p><strong>Objective: </strong>Somapacitan is a long-acting GH approved for once-weekly treatment of GH deficiency (GHD). This study aims to evaluate the efficacy and tolerability of somapacitan after 3 years of treatment and 2 years after switch from daily GH in children with GHD.</p><p><strong>Design: </strong>Randomized, multi-national, open-labelled, active-controlled parallel-group phase 3 trial, with a 52-week main phase and 3-year safety extension (NCT03811535).</p><p><strong>Methods: </strong>Treatment-naïve children with GHD were randomized (2:1) to continuous somapacitan (0.16 mg/kg/week; \"soma/soma\" group) or daily GH (Norditropin®; 0.034 mg/kg/day) followed by somapacitan (0.16 mg/kg/week; \"switch\" group).</p><p><strong>Results: </strong>Of 200 participants, 188 completed 3 years of treatment. Sustained growth was observed in both groups. At week 156, mean (SD) height velocity (HV) between weeks 104 and 156 was 7.4 (1.5) cm/year in the soma/soma group and 7.8 (1.4) cm/year in the switch group. At week 156, the soma/soma and switch groups had reached a mean (SD) height SD score (HSDS) of -0.95 (0.98) and -1.08 (0.93), respectively, and were approaching the mean mid-parental HSDS of -0.74 (for both groups). Mean total insulin-like growth factor I (IGF-I) SDS during year 3 was similar between groups and within normal range (-2.0 to +2.0). Bioactive IGF-I and bioactive IGF-I to IGF-I ratio were similar between groups. Somapacitan was well tolerated, with low proportions reporting injection-site reactions.</p><p><strong>Conclusions: </strong>Sustained efficacy and tolerability were observed for continuous somapacitan treatment for 3 years, and for 2 years after the switching from daily GH treatment. HSDS in both groups was approaching mean mid-parental HSDS.</p><p><strong>Clinical trial registration: </strong>NCT03811535.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 5","pages":"651-661"},"PeriodicalIF":5.3,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144119015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Metabolic syndrome in childhood, adolescent, and young adult cancer survivors: recommendations for surveillance from the International Late Effects of Childhood Cancer Guideline Harmonization Group. 儿童、青少年和青年癌症幸存者的代谢综合征:国际儿童癌症晚期影响指南协调小组的监测建议
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-27 DOI: 10.1093/ejendo/lvaf046
Selina R van den Oever, Renée L Mulder, Kevin C Oeffinger, Jourik A Gietema, Roderick Skinner, Louis S Constine, W Hamish Wallace, Saro Armenian, Dana Barnea, Edit Bardi, Fabiën N Belle, Austin L Brown, Wassim Chemaitilly, Liz Crowne, Elvira C van Dalen, Christian Denzer, Matthew J Ehrhardt, Francesco Felicetti, Danielle N Friedman, Joy Fulbright, Adam W Glaser, Aleksander Giwercman, Hege Sangstuen Haugnes, Samah Hayek, Ulrike Hennewig, Marry M van den Heuvel-Eibrink, Riccardo Haupt, Laura van Iersel, Kala Kamdar, Joop Lefrandt, Gill Levitt, Vera Morsellino, Daniel A Mulrooney, Robert D Murray, Sebastian Neggers, Kirsten K Ness, Kristen A Neville, Nora L Nock, Maria Otth, Pinki K Prasad, Hanneke M van Santen, Christina Schindera, Shoshana R Rath, Julia Steinberger, Monica Terenziani, Mitra Varedi, Thomas Walwyn, Christina Wei, Melissa M Hudson, Leontien C M Kremer, Janine Nuver, Emily Tonorezos
{"title":"Metabolic syndrome in childhood, adolescent, and young adult cancer survivors: recommendations for surveillance from the International Late Effects of Childhood Cancer Guideline Harmonization Group.","authors":"Selina R van den Oever, Renée L Mulder, Kevin C Oeffinger, Jourik A Gietema, Roderick Skinner, Louis S Constine, W Hamish Wallace, Saro Armenian, Dana Barnea, Edit Bardi, Fabiën N Belle, Austin L Brown, Wassim Chemaitilly, Liz Crowne, Elvira C van Dalen, Christian Denzer, Matthew J Ehrhardt, Francesco Felicetti, Danielle N Friedman, Joy Fulbright, Adam W Glaser, Aleksander Giwercman, Hege Sangstuen Haugnes, Samah Hayek, Ulrike Hennewig, Marry M van den Heuvel-Eibrink, Riccardo Haupt, Laura van Iersel, Kala Kamdar, Joop Lefrandt, Gill Levitt, Vera Morsellino, Daniel A Mulrooney, Robert D Murray, Sebastian Neggers, Kirsten K Ness, Kristen A Neville, Nora L Nock, Maria Otth, Pinki K Prasad, Hanneke M van Santen, Christina Schindera, Shoshana R Rath, Julia Steinberger, Monica Terenziani, Mitra Varedi, Thomas Walwyn, Christina Wei, Melissa M Hudson, Leontien C M Kremer, Janine Nuver, Emily Tonorezos","doi":"10.1093/ejendo/lvaf046","DOIUrl":"10.1093/ejendo/lvaf046","url":null,"abstract":"<p><strong>Objective: </strong>Survivors of childhood, adolescent, and young adult (CAYA) cancer have an increased risk of metabolic syndrome (MetS). MetS describes the clustering of cardiovascular risk factors including overweight or obesity, hypertension, (pre)diabetes, and dyslipidaemia. While associated cardiovascular sequelae can be serious, MetS is preventable, manageable, and potentially reversible with the appropriate pharmacological and/or behavioral interventions. To optimize health outcomes in CAYA cancer survivors, international, harmonized surveillance recommendations are essential.</p><p><strong>Design: </strong>Systematic review and guideline development.</p><p><strong>Methods: </strong>A multidisciplinary guideline panel evaluated concordances and discordances across national guidelines for MetS surveillance and performed a systematic literature review. The Grading of Recommendations Assessment, Development and Evaluation methodology was used to grade the available evidence and formulate recommendations considering the strength of the underlying evidence as well as potential harms and benefits associated with MetS surveillance. In case evidence was lacking, recommendations were based on expert opinion. In addition, recommendations for surveillance modalities were derived from existing guidelines for MetS components where applicable.</p><p><strong>Results: </strong>The systematic literature review included 20 studies and highlighted 2 high-risk groups, namely CAYA cancer survivors treated with total body irradiation and those treated with cranial or craniospinal irradiation (moderate-quality evidence). Recommendations were formulated for MetS surveillance in these risk groups, covering preferred screening modalities, age at screening initiation, and surveillance frequency.</p><p><strong>Conclusions: </strong>In this international surveillance guideline for MetS in CAYA cancer survivors, we provide evidence-based recommendations for clinical practice, with the aim of ensuring optimal MetS surveillance for CAYA cancer survivors.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"S27-S40"},"PeriodicalIF":5.3,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Circulating miR-20a-5p as a biomarker associated with cabergoline responsiveness in patients with hyperprolactinemia and pituitary adenomas. 循环miR-20a-5p作为高催乳素血症和垂体腺瘤患者卡麦角林反应性相关的生物标志物
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-27 DOI: 10.1093/ejendo/lvaf025
Yang Jong Lee, Jae Won Hong, Yongjae Kim, Jisup Kim, Chan Woo Kang, Min-Ho Lee, Ju Hyung Moon, Eui Hyun Kim, Cheol Ryong Ku, Eun Jig Lee
{"title":"Circulating miR-20a-5p as a biomarker associated with cabergoline responsiveness in patients with hyperprolactinemia and pituitary adenomas.","authors":"Yang Jong Lee, Jae Won Hong, Yongjae Kim, Jisup Kim, Chan Woo Kang, Min-Ho Lee, Ju Hyung Moon, Eui Hyun Kim, Cheol Ryong Ku, Eun Jig Lee","doi":"10.1093/ejendo/lvaf025","DOIUrl":"10.1093/ejendo/lvaf025","url":null,"abstract":"<p><strong>Objective: </strong>Dopamine agonist (DA) treatment is effective for hyperprolactinemia and reduces tumor size in patients with prolactinoma; however, prolonged DA administration without prolactinoma causes fibrosis around tumor tissues. Therefore, we aimed to identify circulating microRNAs (miRNAs) as potential biomarkers to predict prolactinoma in patients with hyperprolactinemia and pituitary tumors.</p><p><strong>Design: </strong>Plasma samples were collected from 3 comparison groups: (1) patients clinically diagnosed with prolactinoma vs nonfunctioning pituitary adenoma (NFPA) based on response to cabergoline treatment, (2) patients with surgically confirmed prolactinoma vs NFPA, and (3) patients before and after cabergoline treatment. Candidate miRNAs from the initial nCounter assay were validated using quantitative reverse transcription-polymerase chain reaction (qRT-PCR) in a larger cohort of 247 patients with hyperprolactinemia and 37 controls.</p><p><strong>Methods: </strong>The nCounter assay was used for miRNA expression profiling, and the qRT-PCR validated the candidate miRNAs in the plasma and tumor tissue samples. Total RNA sequencing was conducted on pituitary tumor tissues to identify transcriptomic alterations. Furthermore, candidate miRNA target genes and their biological roles were analyzed using prolactinoma cell lines.</p><p><strong>Results: </strong>Three miRNA candidates (miR-20a-5p, miR-424-5p, and miR-514a-5p) were selected by analyzing 3 sets of expression comparisons between the 2 groups. Furthermore, the relative miR-20a-5p expression significantly increased in prolactinoma compared with that in normal pituitary glands, NFPA, growth hormone-secreting pituitary adenoma, and adrenocorticotropic hormone-secreting pituitary adenoma. In MMQ and GH4 cells, miR-20a-5p inhibition decreased prolactinoma cell proliferation and prolactin secretion.</p><p><strong>Conclusions: </strong>Circulating miR-20a-5p is a potential biomarker for prolactinoma, which could be associated with responsiveness to DAs.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 4","pages":"335-345"},"PeriodicalIF":5.3,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763506","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Differential cardiovascular risks of menopausal hormone therapy: insights from a Korean cohort. 绝经期激素治疗的不同心血管风险:来自韩国队列的见解。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-27 DOI: 10.1093/ejendo/lvaf040
Qingbo Li, Zhibao Sun, Wencheng Xu
{"title":"Differential cardiovascular risks of menopausal hormone therapy: insights from a Korean cohort.","authors":"Qingbo Li, Zhibao Sun, Wencheng Xu","doi":"10.1093/ejendo/lvaf040","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf040","url":null,"abstract":"","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 4","pages":"L17-L18"},"PeriodicalIF":5.3,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144062971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Identification of hypertension subtypes using microRNA profiles and machine learning. 利用microRNA谱和机器学习识别高血压亚型。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-27 DOI: 10.1093/ejendo/lvaf052
Smarti Reel, Parminder S Reel, Josie Van Kralingen, Casper K Larsen, Stacy Robertson, Scott M MacKenzie, Alexandra Riddell, John D McClure, Stelios Lamprou, John M C Connell, Laurence Amar, Alessio Pecori, Martina Tetti, Christina Pamporaki, Marek Kabat, Filippo Ceccato, Matthias Kroiss, Michael C Dennedy, Anthony Stell, Jaap Deinum, Paolo Mulatero, Martin Reincke, Anne-Paule Gimenez-Roqueplo, Guillaume Assié, Anne Blanchard, Felix Beuschlein, Gian Paolo Rossi, Graeme Eisenhofer, Maria-Christina Zennaro, Emily Jefferson, Eleanor Davies
{"title":"Identification of hypertension subtypes using microRNA profiles and machine learning.","authors":"Smarti Reel, Parminder S Reel, Josie Van Kralingen, Casper K Larsen, Stacy Robertson, Scott M MacKenzie, Alexandra Riddell, John D McClure, Stelios Lamprou, John M C Connell, Laurence Amar, Alessio Pecori, Martina Tetti, Christina Pamporaki, Marek Kabat, Filippo Ceccato, Matthias Kroiss, Michael C Dennedy, Anthony Stell, Jaap Deinum, Paolo Mulatero, Martin Reincke, Anne-Paule Gimenez-Roqueplo, Guillaume Assié, Anne Blanchard, Felix Beuschlein, Gian Paolo Rossi, Graeme Eisenhofer, Maria-Christina Zennaro, Emily Jefferson, Eleanor Davies","doi":"10.1093/ejendo/lvaf052","DOIUrl":"10.1093/ejendo/lvaf052","url":null,"abstract":"<p><strong>Objective: </strong>Hypertension is a major cardiovascular risk factor affecting about 1 in 3 adults. Although the majority of hypertension cases (∼90%) are classified as \"primary hypertension\" (PHT), endocrine hypertension (EHT) accounts for ∼10% of cases and is caused by underlying conditions such as primary aldosteronism (PA), Cushing's syndrome (CS), pheochromocytoma or paraganglioma (PPGL). EHT is often misdiagnosed as PHT leading to delays in treatment for the underlying condition, reduced quality of life and costly, often ineffective, antihypertensive treatment. MicroRNA (miRNA) circulating in the plasma is emerging as an attractive potential biomarker for various clinical conditions due to its ease of sampling, the accuracy of its measurement and the correlation of particular disease states with circulating levels of specific miRNAs.</p><p><strong>Methods: </strong>This study systematically presents the most discriminating circulating miRNA features responsible for classifying and distinguishing EHT and its subtypes (PA, PPGL, and CS) from PHT using 8 different supervised machine learning (ML) methods for the prediction.</p><p><strong>Results: </strong>The trained models successfully classified PPGL, CS, and EHT from PHT with area under the curve (AUC) of 0.9 and PA from PHT with AUC 0.8 from the test set. The most prominent circulating miRNA features for hypertension identification of different disease combinations were hsa-miR-15a-5p and hsa-miR-32-5p.</p><p><strong>Conclusions: </strong>This study confirms the potential of circulating miRNAs to serve as diagnostic biomarkers for EHT and the viability of ML as a tool for identifying the most informative miRNA species.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"418-428"},"PeriodicalIF":5.3,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty. 不耐受基因中的有害变异揭示了自限性青春期延迟的新候选基因。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-27 DOI: 10.1093/ejendo/lvaf061
Raíssa C Rezende, Wen He, Lena R Kaisinger, Antonio M Lerario, Evan C Schafer, Katherine A Kentistou, Priscila S Barroso, Nathalia L M Andrade, Naiara C B Dantas, Elaine Maria F Costa, Laurana P Cellin, Elisangela P S Quedas, Stephanie B Seminara, Rodolfo A Rey, Romina P Grinspon, Veronica Meriq, Ken K Ong, Ana Claudia Latronico, John R B Perry, Sasha R Howard, Yee-Ming Chan, Alexander A L Jorge
{"title":"Deleterious variants in intolerant genes reveal new candidates for self-limited delayed puberty.","authors":"Raíssa C Rezende, Wen He, Lena R Kaisinger, Antonio M Lerario, Evan C Schafer, Katherine A Kentistou, Priscila S Barroso, Nathalia L M Andrade, Naiara C B Dantas, Elaine Maria F Costa, Laurana P Cellin, Elisangela P S Quedas, Stephanie B Seminara, Rodolfo A Rey, Romina P Grinspon, Veronica Meriq, Ken K Ong, Ana Claudia Latronico, John R B Perry, Sasha R Howard, Yee-Ming Chan, Alexander A L Jorge","doi":"10.1093/ejendo/lvaf061","DOIUrl":"10.1093/ejendo/lvaf061","url":null,"abstract":"<p><strong>Objective: </strong>Self-limited delayed puberty (SLDP) is the most common cause of delayed puberty and exhibits high heritability, although few causal genes have been identified. This study aims to identify potential candidate genes associated with SLDP.</p><p><strong>Methods: </strong>Whole-exome sequencing was conducted in 71 children with SLDP, most of whom presented with short stature. Rare coding variants were prioritized through comprehensive bioinformatics analyses and classified as high-impact or moderate-impact based on predicted functional effects. Candidate genes were selected based on the absence of human phenotype data, recurrence within the cohort, intolerance to mutation, and prior identification in genome-wide association studies. Burden tests compared the frequency of rare high-impact variants in these candidate genes between SLDP patients and the gnomAD v2.0 control group. Gene-phenotype associations were further explored using UK Biobank data.</p><p><strong>Results: </strong>Fourteen high-impact and 7 moderate-impact variants were identified in 19 candidate genes, suggesting a potential role in SLDP. Variants in 8 candidate genes (GPS1, INHBB, SP3, NAMPT, ARID3B, NASP, FNBP1, PRDM2) were significantly enriched in cases compared to controls in the burden test analysis. INHBB was additionally linked to delayed menarche in UK Biobank data. Furthermore, 3 pathogenic variants (CDK13, GDF5, ANRKD11) and 6 likely pathogenic variants (TYMP, DPF2, KMT2C, TP63, MC3R, GHSR) previously associated with growth or pubertal human disorders were identified.</p><p><strong>Conclusion: </strong>These findings suggest that SLDP involves both monogenic and polygenic mechanisms, with novel candidate genes contributing to its genetic basis. The association of INHBB with pubertal timing underscores its potential role in SLDP pathophysiology.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"481-490"},"PeriodicalIF":5.3,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12013340/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143802662","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Impaired accuracy of the dexamethasone suppression test after bariatric surgery: implications for post-surgical cortisol interpretation. 减肥手术后地塞米松抑制试验的准确性受损:对术后皮质醇解释的影响。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-27 Epub Date: 2025-03-25 DOI: 10.1093/ejendo/lvaf053
Anna Casteràs, Enzamaria Fidilio, Marta Comas, Alba Zabalegui, Vanesa Flores, Marina Giralt, Noelia Díaz-Troyano, Roser Ferrer, Ramon Vilallonga, Andreea Ciudin, Betina Biagetti
{"title":"Impaired accuracy of the dexamethasone suppression test after bariatric surgery: implications for post-surgical cortisol interpretation.","authors":"Anna Casteràs, Enzamaria Fidilio, Marta Comas, Alba Zabalegui, Vanesa Flores, Marina Giralt, Noelia Díaz-Troyano, Roser Ferrer, Ramon Vilallonga, Andreea Ciudin, Betina Biagetti","doi":"10.1093/ejendo/lvaf053","DOIUrl":"10.1093/ejendo/lvaf053","url":null,"abstract":"<p><strong>Importance: </strong>The impact of bariatric surgery (BS) on the performance of the 1 mg dexamethasone suppression test (DST) is not well established.</p><p><strong>Objective: </strong>(1) To evaluate the intraindividual results of the DST in a group of patients before and 2 years after BS, and (2) to assess plasma dexamethasone levels and other factors influencing the reliability of the DST.</p><p><strong>Methods: </strong>We conducted a prospective longitudinal study, including 38 subjects evaluating DST before and 2 years after BS. We also compared DST results, plasma dexamethasone levels, and related factors across 3 groups: individuals of the previous cohort 2 years post-BS (n = 21), patients with severe obesity without BS (pwO; n = 10), and healthy controls (n = 7).</p><p><strong>Results: </strong>Post-BS patients had higher cortisol levels after DST compared with prior (0.9 vs 0.7 µg/dL; P < .01). Four individuals post-BS had cortisol levels >1.8 µg/dL in the absence of autonomous cortisol secretion. Plasma dexamethasone levels were significantly lower in post-BS patients (1.9 ng/dL) compared with non-operated pwO (3.7 ng/dL) and healthy controls (4.0 ng/mL), P < .01. Multivariate analysis identified BS (β = -1.258, P = .01) and sex hormone-binding globulin levels (β = -.013, P = .04) as significant independent predictors of plasma dexamethasone concentrations.</p><p><strong>Conclusion: </strong>Post-BS subjects showed higher post-DST cortisol levels and reached lower plasma dexamethasone concentration compared with non-operated individuals, which may lead to false-positive results. These findings highlight the need to consider dexamethasone measurements to enhance DST interpretation in post-BS patients. Further studies are necessary to validate these findings in broader populations. The underlying mechanisms need to be explored.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 4","pages":"346-355"},"PeriodicalIF":5.3,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
Cardiovascular status in chronic hypoparathyroidism: a systematic cross-sectional assessment in 168 patients. 慢性甲状旁腺功能减退的心血管状态:168例患者的系统横断面评估。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-27 DOI: 10.1093/ejendo/lvaf023
Carmina Teresa Fuss, Karen Gronemeyer, Franca Hermes, Marcus Dörr, Benedikt Schmid, Caroline Morbach, Lena Schmidbauer, Nicolas Schlegel, Martin Fassnacht, Ann Cathrin Koschker, Peter Nordbeck, Anke Hannemann, Stefanie Hahner
{"title":"Cardiovascular status in chronic hypoparathyroidism: a systematic cross-sectional assessment in 168 patients.","authors":"Carmina Teresa Fuss, Karen Gronemeyer, Franca Hermes, Marcus Dörr, Benedikt Schmid, Caroline Morbach, Lena Schmidbauer, Nicolas Schlegel, Martin Fassnacht, Ann Cathrin Koschker, Peter Nordbeck, Anke Hannemann, Stefanie Hahner","doi":"10.1093/ejendo/lvaf023","DOIUrl":"10.1093/ejendo/lvaf023","url":null,"abstract":"<p><strong>Objective: </strong>Long-term complications such as renal diseases are well known in patients with chronic hypoparathyroidism (hypoPT), but risk of cardiovascular comorbidity remains less clear. This study comprehensively assessed cardiovascular parameters in hypoPT compared to matched controls.</p><p><strong>Design: </strong>Cross-sectional cohort study involving 168 patients with chronic hypoPT.</p><p><strong>Methods: </strong>Patients underwent electrocardiograms, blood pressure measurements, and echocardiography. A 1:3 propensity score matching was performed with individuals from the German population-based Study of Health in Pomerania (SHIP-TREND) and the \"Characteristics and Course of Heart Failure Stages A-B\" (STAAB) cohort.</p><p><strong>Results: </strong>HypoPT showed significantly higher systolic (128 vs 125 mm Hg, P = .02) and diastolic blood pressures (83 vs 77 mm Hg, P < .01). Intake of antihypertensives was similar between groups. The QTc interval was markedly prolonged (438 vs 420 ms, P < .01) with QTc interval prolongation occurring significantly more frequently in hypoPT (24% vs 6%, P < .01). Interestingly, echocardiography revealed significantly lower left ventricular mass index (28 vs 43 g/m2.7, P < .01) and less frequent left ventricular hypertrophy (7%% vs 41%, P < .01) in hypoPT but comparable left ventricular ejection fraction (P = .48). HypoPT patients had higher prevalence of mitral (20 vs 0%, P < .01) and aortic valve stenoses (7 vs 2%, P < .01). Comparison with STAAB confirmed the increased prevalence of arterial hypertension and reduced myocardial mass indices.</p><p><strong>Conclusions: </strong>Patients with hypoPT exhibit a higher prevalence of QTc interval prolongation despite established therapy and an increased incidence of hypertension. Conversely, echocardiography revealed lower left ventricular mass and less frequent left ventricular hypertrophy in hypoPT, but higher prevalence of valve stenosis. Regular monitoring of hypertension, QTc interval prolongation, and valve stenosis is recommended to reduce the risk of cardiovascular diseases.</p><p><strong>Clinical trial registration number: </strong>NCT05585593.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 4","pages":"373-384"},"PeriodicalIF":5.3,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763490","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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
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