European Journal of Endocrinology最新文献

{"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 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":"https://doi.org/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 seven moderate-impact variants were identified in 19 candidate genes, suggesting a potential role in SLDP. Variants in eight 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, three pathogenic variants (CDK13, GDF5, ANRKD11) and six 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":""},"PeriodicalIF":5.3,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Should Anti-Müllerian Hormone Be a Diagnosis Criterion for Polycystic Ovary Syndrome? An In-Depth Review of Pros and Cons.","authors":"Emídio Vale-Fernandes, Duarte Pignatelli, Mariana P Monteiro","doi":"10.1093/ejendo/lvaf062","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf062","url":null,"abstract":"<p><p>Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder characterized by hyperandrogenism, ovulatory dysfunction, and polycystic ovarian morphology (PCOM). Despite the widespread use of the Rotterdam criteria, challenges in diagnostic accuracy persist. Anti-Müllerian hormone (AMH), a glycoprotein secreted by ovarian follicles, has emerged as a promising biomarker for refining diagnosis due to its strong correlation with follicular count and elevated levels in women with PCOS. This review critically evaluates the advantages and limitations of incorporating AMH into PCOS diagnostic criteria. Elevated AMH levels are indicative of PCOM and anovulation, offering a non-invasive diagnostic tool that minimizes interobserver variability in ultrasound-based assessments. Additionally, AMH remains stable throughout the menstrual cycle and aligns with phenotypic diversity in PCOS, potentially supporting individualized management strategies. However, significant challenges remain. Variability in AMH assay methods, the absence of comparable cut-off values, and influences of age, ethnicity, and obesity on AMH levels limit its universal applicability. Additionally, AMH cut-offs for PCOS diagnosis, ranging from 3.5 to 5 ng/mL, raises questions about its clinical relevance, as there is not clear evidence of its biological significance. The review also highlights AMH's clinical utility in reproductive medicine, particularly in predicting ovarian response to stimulation, tailoring gonadotropin dosages, and optimizing assisted reproductive technology (ART) outcomes. While AMH holds promise as a complementary diagnostic criterion for PCOS, its fully integration into clinical practice requires further validation through standardized assays, population-specific cut-offs, and robust studies to address existing limitations. In conclusion, AMH harbours the potential to enhance the specificity and sensitivity of PCOS diagnosis, particularly in dubious cases. However, the inclusion of AMH in the current criteria for diagnosing PCOS still requires addressing methodological challenges and balancing its benefits against inherent limitations.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143788180","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}

{"title":"Blood pressure and its associations in 554 children and young people with CAH.","authors":"Neil R Lawrence, Irina Bacila, Joseph Tonge, Jeremy Dawson, Gary S Collins, Zi-Qiang Lang, Jillian Bryce, Malika Alimussina, Minglu Chen, Salma Rashid Ali, Safwaan Adam, Erica L T van den Akker, Tânia Aparecida Sartori Sanchez Bachega, Federico Baronio, Niels Holtum Birkebæk, Walter Bonfig, Hedi Claahsen van der Grinten, Martine Cools, Eduardo Correa Costa, Miguel Debono, Liat de Vries, Christa E Flück, Gabriella Gazdagh, Ayla Güven, Sabine E Hannema, Violeta Iotova, Hetty J van der Kamp, Ruth Krone, Sofia Leka-Emiri, María Clemente-León, Corina Raducanu Lichiardopol, Renata L Markosyan, Tatjana Milenkovic, Mirela Costa de Miranda, Uta Neumann, John Newell-Price, Şükran Poyrazoğlu, Ursina Probst-Scheidegger, Gianni Russo, Luisa De Sanctis, Sumudu Nimali Seneviratne, Marianna Rita Stancampiano, Rieko Tadokoro-Cuccaro, Ajay Thankamony, Ana Vieites, Malgorzata Wasniewska, Diego Yeste, Jeremy Tomlinson, S Faisal Ahmed, Nils Krone","doi":"10.1093/ejendo/lvaf060","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf060","url":null,"abstract":"<p><strong>Background: </strong>Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) affects approximately 1 in 15,000 individuals. We leveraged the power of multicentre registry data to assess the trend and predictors of blood pressure (BP) within children and young persons with 21OHD to inform monitoring strategies.</p><p><strong>Method: </strong>Data from the International CAH Registry in patients younger than 20 years was compared to normative values. Values of BP were modelled to create reference curves, multiple change point analysis applied to quantify the difference with normative data. Covariate adjustment was informed by a directed acyclic graph, prior to joint outcome regression modelling to accurately assess predictors of BP.</p><p><strong>Results: </strong>A total of 6436 visits within 554 patients (52.5% females) showed BP-Standard deviation scores (SDS) were higher at younger ages. Patients under five years had systolic BP-SDS of 1.6 (Q1:0.6-Q3:2.7) decreasing to 1.0 (Q1:0.2-Q3:1.8) over five years, equating to 31.0% over the 95th centile decreasing to 15.0%. Higher doses of fludrocortisone were associated with a small increase in systolic BP equivalent to 1.2mmHg with every 100 micrograms extra fludrocortisone. Renin of 100µU/ml was associated with 4.6mmHg lower systolic BP than a renin of 1µU/ml, higher 17OH-progesterone and androstenedione also predicted lower systolic and diastolic BP (p<0.05).</p><p><strong>Conclusion: </strong>Higher BP in children with 21OHD is common and particularly pronounced at a younger age, but may not be attributable to excessive mineralocorticoid replacement. There is a need to improve our understanding of the determinants of this raised BP as well as its long-term effects.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143784371","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}

{"title":"Mortality in Cushing's Syndrome: Declining Over Two Decades but Remaining Higher Than the General Population.","authors":"Amit Akirov, Maria Fleseriu, Hiba Masri-Iraqi, Tzipora Shochat, Shiri Kushnir, Ilan Shimon, Yaron Rudman","doi":"10.1093/ejendo/lvaf059","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf059","url":null,"abstract":"<p><strong>Objective: </strong>Patients with endogenous Cushing's syndrome (CS) have elevated mortality, particularly during active disease. A recent meta-analysis reported reduced mortality rates after 2000 in adrenal CS and Cushing disease (CD), though many studies lacked population-matched controls.</p><p><strong>Methods: </strong>Nationwide retrospective study (2000-2023) in Israel using the Clalit Health Services database to assess all-cause mortality in patients with endogenous CS matched 1:5 with controls by age, sex, socioeconomic-status, and BMI. Primary outcome was all-cause mortality. Secondary outcomes included cause-specific mortality, impact of hypercortisolism remission, disease source, and mortality risk factors.</p><p><strong>Results: </strong>The cohort included 609 cases with CS (mean age 48.1±17.2 years; 65.0% women) and 3,018 matched controls (47.9±17.2 years; 65.4% women). Over a median follow-up of 16 years, 133 cases (21.8%) and 472 controls (15.6%) died (HR=1.44, 95% CI, 1.19-1.75). Both patients with CD (HR=1.73, 95% CI, 1.27-2.36) and adrenal CS (HR=1.31, 95% CI, 1.00-1.81) had increased mortality risk. Patients without remission within 2 years had a higher mortality risk than those achieving remission (HR=1.44, 95% CI, 1.00-2.17). Mortality was similar for CD and adrenal CS (HR=0.83, 95% CI, 0.56-1.24). Older age, male gender, and prior malignancy were independent risk factors for mortality.</p><p><strong>Conclusion: </strong>This is the largest national cohort study on mortality risk in CS over the past two decades, showing a significantly higher risk compared to matched controls in a homogeneous database. While etiology had no impact, remission significantly affected mortality, highlighting the importance of disease control for long-term survival.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143771642","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}

{"title":"Urea-stimulated copeptin: a novel diagnostic approach in polyuria polydipsia syndrome.","authors":"Sven Lustenberger, Cihan Atila, Juliana Baumgartner, Sophie Monnerat, Julia Beck, Joyce Santos de Jesus, Mirjam Christ-Crain","doi":"10.1093/ejendo/lvaf058","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf058","url":null,"abstract":"<p><strong>Background: </strong>Distinguishing arginine vasopressin (AVP) deficiency from primary polydipsia remains challenging. While hypertonic saline-stimulated copeptin testing offers high diagnostic accuracy, it is complex and limited to specialized centers. Intravenous urea is known to stimulate AVP secretion, but the effect of oral urea on copeptin levels is unknown.</p><p><strong>Methods: </strong>22 healthy adults were included in a randomized, double-blind, placebo-controlled cross-over trial receiving a single dose of urea (0.5 g/kg; minimum 30 g, maximum 45 g) and placebo. Serum copeptin was measured at 30-minute intervals for 2.5 hours.In a second step, 13 patients with AVP-deficiency and 13 patients with primary polydipsia were included in an open-label pilot study, receiving urea only. The primary endpoint was maximum copeptin within 150 minutes.</p><p><strong>Results: </strong>In healthy adults, median [IQR] copeptin significantly increased from 4.6 [3.0-5.7] pmol/L at baseline to a maximum of 10.1 [7.2-11.6] pmol/L at 120 minutes after ingestion of urea, while it remained stable at 3.8 [2.9-6.6] pmol/L after placebo intake (p < 0.001).In patients with AVP-deficiency, copeptin remained below detection limit throughout the test, while in patients with primary polydipsia the peak was seen 150 minutes after ingestion of urea at 7.4 pmol/L [4.3, 10.3].The best copeptin cut-off for differentiating AVP-deficiency from primary polydipsia was 3.5 pmol/L after 120 minutes, with 93% sensitivity and specificity.</p><p><strong>Conclusion: </strong>Oral urea stimulates copeptin in healthy adults and patients with primary polydipsia, but not in patients with AVP-deficiency, establishing the first oral copeptin-based test in differentiating primary polydipsia from AVP-deficiency.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763488","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}

{"title":"Gender-Affirming Hormone Therapy and Its Impact on Myocardial Mass and Cardiac Function: A Prospective Magnetic Resonance Cohort Study on Transgender Men and Women.","authors":"Carola Deischinger, Dorota Slukova, Lana Kosi-Trebotic, Jürgen Harreiter, Stephan Nopp, Ivica Just, Radka Klepochova, Martin Krššák, Siegfried Trattnig, Ulrike Kaufmann, Alexandra Kautzky-Willer","doi":"10.1093/ejendo/lvaf057","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf057","url":null,"abstract":"<p><strong>Background and objective: </strong>Differences in cardiac parameters such as myocardial mass, left ventricular ejection fraction (LVEF), cardiac output, and brain natriuretic peptide (NT-proBNP) levels between cisgender men and women are well-established. No evidence exists regarding changes in myocardial mass or cardiac function parameters in transgender individuals undergoing gender-affirming hormone therapy (GAHT).</p><p><strong>Methods: </strong>A prospective study enrolling transgender individuals under GAHT (20 individuals assigned female at birth (AFAB), 15 assigned male at birth (AMAB)) was conducted at the Medical University of Vienna from 2019 to 2022. A 3-Tesla electrocardiogram-gated magnetic resonance imaging measured myocardial mass, LVEF, and other cardiac function parameters before GAHT and at six-month follow-up. Myocardial lipid content was quantified using magnetic resonance spectroscopy.</p><p><strong>Results: </strong>In AFAB, myocardial mass increased significantly after six months of GAHT from in mean (±SD) 48 (±8) g/m² at baseline to 54 (±7) g/m² at follow-up (p=0.011). AMAB showed a non-significant decrease of 4 (±14) g/m² in myocardial mass. In both groups, no significant changes were noted in LVEF, stroke volume, cardiac output, or peak filling rate. Neither testosterone (AFAB: r= -0.127, p=0.679; AMAB: r= -0.127, p=0.679) nor estradiol levels (AFAB: r= -0.154, p=0.616; AMAB: r= -0.154, p=0.616) nor BMI were related to myocardial mass at follow-up. NT-proBNP levels in AFAB were significantly reduced at follow-up (from in median (IQR) 41 (26-57) pg/mL to 19 (12-34) pg/mL).</p><p><strong>Conclusion: </strong>Myocardial mass increased while NT-proBNP levels decreased significantly in AFAB after six months of GAHT. However, no significant changes in cardiac function were noted in AMAB and AFAB.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143735643","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}

{"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":"https://doi.org/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}

{"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}

{"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}

{"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":"https://doi.org/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}