European Journal of Endocrinology最新文献

{"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":"Big data determination and validation of reference range for 24-h urine cortisol by liquid chromatography-mass spectrometry.","authors":"Gregory A Kline, Erik S Venos, David Campbell, Alexander A Leung, Dennis Orton","doi":"10.1093/ejendo/lvaf054","DOIUrl":"10.1093/ejendo/lvaf054","url":null,"abstract":"<p><strong>Objective: </strong>Twenty-four-hour urine-free cortisol (UFC) is a first-line test for Cushing syndrome (CS). A new mass spectrometry assay for UFC requires a validated, relevant reference range appropriate to a screening population.</p><p><strong>Design: </strong>Combined retrospective and prospective cohort study in a government health system and tertiary endocrinology clinic, Canada. Participants were patients with potential features of CS.</p><p><strong>Methods: </strong>The refineR reference interval algorithm was used to derive a middle 95%ile reference interval from 4830 UFC results in non-CS patients, compared with 120 prospective patients where evaluation excluded CS.</p><p><strong>Results: </strong>Urine-free cortisol and 24-h urine volume were correlated (r = 0.28, P < .0001). There was no significant difference between the volume-corrected UFC distributions in the prospective vs retrospective populations (P = .09). Urine-free cortisol distribution was highly skewed (P < .0001) and showed strong sex interaction. The refineR-generated adult male UFC upper reference limit was 238 nmol/day (86.3 μg/day) and for females was 147 nmol/day (53.3 μg/day); urine volume-corrected, the upper limits were 89 nmol/L (32.3 μg/L) and 91 nmol/L (32.9 μg/L), respectively. Applied to both populations, between 3% and 8% of all results would be flagged high; most are expected to represent nonneoplastic (pseudo)Cushing's.</p><p><strong>Conclusions: </strong>We used mass population data, where the prevalence of CS was likely very rare, plus a carefully phenotyped sample where CS was considered but excluded, to derive a validated reference interval for 24-h UFC by mass spectrometry in populations that reflect real-world use of the test. Given the highly skewed upper tail of the population distribution, it is probable that high test specificity for CS will require multimodality diagnostic confirmation.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"327-334"},"PeriodicalIF":5.3,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143647652","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":"Age-Related Differences in the Clinical Features and Management of Pituitary Apoplexy: a Cohort Study.","authors":"Esteban Cordero Asanza, Antonio Biroli, Carlos Pérez-López, Marta Araujo-Castro, Rosa Cámara, Fernando Guerrero-Pérez, Almudena Vicente, Cristina Lamas, Guillermo Serra, Ana Irigaray Echarri, M Dolores Ollero, Inmaculada González Molero, Rocío Villar-Taibo, María Dolores Moure Rodríguez, Pablo García Feijoo, Víctor Rodríguez Berrocal, Noelia Sánchez, Alba Gutiérrez Hurtado, Vanessa Capristan-Díaz, Andreu Simó-Servat, Marta Gallach, Eva Safont Pérez, Victoria González Rosa, Soralla Civantos Modino, Edelmiro Menéndez Torre, Anna Aulinas, Pedro Iglesias, Juan J Diez, Verónica Rodríguez-Hernández, Albert Puig-Pérez, Elisa Blangini, Ignacio Bernabéu, Cristina Álvarez-Escolá, Silvana Sarria-Estrada, Manel Puig-Domingo, Fuat Arikán Abelló, Elena Martínez-Sáez, Betina Biagetti","doi":"10.1093/ejendo/lvaf056","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf056","url":null,"abstract":"<p><strong>Background: </strong>Pituitary apoplexy (PA) is a rare and acute condition resulting from hemorrhage or infarction of the pituitary gland. This study aimed to assess clinical characteristics, management, and outcomes of PA in patients aged <65 and ≥65 years using data from a Spanish multicenter cohort.</p><p><strong>Methods: </strong>We conducted a retrospective, multicenter study (2010-2023) of 301 PA patients from 18 Spanish hospitals. Data were analyzed for differences in demographics, clinical presentation, treatment approach, and outcomes.</p><p><strong>Results: </strong>Patients aged ≥65 years (n=116, 38.5%) had more comorbidities, compared to younger patients (n=185, 61.5%). No significant differences were observed in clinical presentation, including Pituitary Apoplexy Score and radiological findings except for higher frequency of cranial nerve palsy (46.2 vs. 64.9%; p=0.02) in older patients. Surgical (n=209), and conservative (n=92) treatment rates were similar between groups (conservative: 29.9 younger vs. 32.8% older; p=0.51). Histopathological analysis revealed more necrosis in patients aged ≥65 years (66.7 vs. 80.6%; p = 0.04). Surgical resection rates and outcomes including mortality were comparable across age groups.</p><p><strong>Conclusions: </strong>PA management and outcomes were comparable in younger and older patients, despite greater comorbidities and more severe symptoms in older individuals. Histopathological findings suggest potential age-related differences in tumor biology, warranting further research. MRI would be preferred for diagnosis, particularly in older patients, as ischemic necrotic PA may be undiagnosed without advanced imaging.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700048","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":"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":"https://doi.org/10.1093/ejendo/lvaf053","url":null,"abstract":"<p><strong>Background: </strong>The impact of bariatric surgery (BS) on the performance of 1mg 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 three groups: individuals of the previous cohort two 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 to prior (0.9 vs. 0.7 µg/dL; p<0.01). Four individuals post-BS had cortisol levels >1.8 µg/dL in absence of autonomous cortisol secretion. Plasma dexamethasone levels were significantly lower in post-BS patients (1.9 ng/dL) compared to non-operated pwO (3.7 ng/dL) and healthy controls (4.0 ng/mL), p<0.01. Multivariate analysis identified BS (β= -1.258, p= 0.01) and SHBG levels (β= -0.013, p= 0.04) 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 to 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":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-03-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143700049","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":"https://doi.org/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, impaired glucose tolerance, and hyperlipidaemia. While associated cardiovascular sequelae can be serious, MetS is preventable, manageable and potentially reversible with the appropriate pharmacological and/or behavioral interventions. To optimise health outcomes in CAYA cancer survivors, international, harmonised 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 two 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":""},"PeriodicalIF":5.3,"publicationDate":"2025-03-19","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 Singh 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":"https://doi.org/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 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 microRNAs.</p><p><strong>Methods: </strong>This study systematically presents the most discriminating circulating microRNA features responsible for classifying and distinguishing EHT and its subtypes (PA, PPGL, 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 AUC 0.9 and PA from PHT with AUC 0.8 from the test set. The most prominent circulating microRNA 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 microRNAs to serve as diagnostic biomarkers for EHT and the viability of machine learning as a tool for identifying the most informative microRNA species.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-03-19","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":"Identification of metabolite biomarkers for pancreatic neuroendocrine tumors using a metabolomic approach.","authors":"Arnaud Jannin, Sophie Dabo-Niang, Christine Do Cao, Amandine Descat, Stéphanie Espiard, Catherine Cardot-Bauters, Marie-Christine Vantyghem, Benjamin Chevalier, Jean François Goossens, Benjamin Marsac, Jimmy Vandael, Sophie Dominguez, Robert Caiazzo, François Pattou, Camille Marciniak, Medhi El Amrani, Isabelle Van Seuningen, Nicolas Jonckheere, Anne-Frédérique Dessein, Lucie Coppin","doi":"10.1093/ejendo/lvaf055","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf055","url":null,"abstract":"<p><strong>Objective: </strong>Metabolic flexibility, a key hallmark of cancer, reflects aberrant tumor changes associated with metabolites. The metabolic plasticity of pancreatic neuroendocrine tumors (pNETs) remains largely unexplored. Notably, the heterogeneity of pNETs complicates their diagnosis, prognosis, and therapeutic management. Here, we compared the plasma metabolomic profiles of patients with pNET and non-cancerous individuals to understand metabolic dysregulation.</p><p><strong>Design and methods: </strong>Plasma metabolic profiles of 76 patients with pNETs and 38 non-cancerous individuals were analysed using LC-MS/MS and FIA-MS/MS (Biocrates AbsoluteIDQ p180 kit). Statistical analyses, including univariate and multivariate methods, were performed along with the generation of receiver operating characteristic (ROC) curves for metabolomic signature identification.</p><p><strong>Results: </strong>Compared to non-cancerous individuals, patients with pNET exhibited elevated levels of phosphoglyceride metabolites and reduced acylcarnitine levels, indicating an upregulation of fatty acid oxidation (FAO), which is crucial for the energy metabolism of pNET cells and one-carbon metabolism metabolites. Elevated glutamate levels and decreased lipid metabolite levels have been observed in patients with metastatic pNETs. Patients with the germline MEN1 mutations showed lower amino acid metabolites and FAO, with increased metabolites related to leucine catabolism and lipid metabolism, compared to non-MEN1 mutated patients. The highest area under the ROC curve (AUC) was observed in patients with pNET harbouring MEN1 mutations.</p><p><strong>Conclusion: </strong>This study highlights the distinct plasma metabolic signatures of pNETs, including the critical role of FAO and elevated glutamate levels in metastasis, supporting the energy and biosynthetic needs of rapidly proliferating tumour cells. Mapping of these dysregulated metabolites may facilitate the identification of new therapeutic targets for pNETs management.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656339","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":"Autoimmune diseases in 3,812 Danish transgender persons and 38,120 cisgender controls before and after transgender care. A register based cohort study.","authors":"Dorte Glintborg, Jens-Jakob Kjer Møller, Katrine Hass Rubin, Louise Lehmann Christensen, Marianne Skovsager Andersen","doi":"10.1093/ejendo/lvaf051","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf051","url":null,"abstract":"<p><strong>Objective: </strong>The risk of autoimmune disease could be increased in transgender persons (TG) and could be affected by transgender care. We assessed the risk of autoimmune diseases in TG compared to controls before and after transgender care.</p><p><strong>Methods: </strong>A national register-based Danish cohort study in individuals diagnosed with gender dysphoria year 2000-2021. For each case, five age-matched cisgender controls of same birth sex and five age-matched controls of the opposite birth sex were included. Any autoimmune disease, type 1 diabetes and/or thyroid disease were study outcomes (ICD10 diagnosis and/or medical treatment for type 1 diabetes or thyroid disease).</p><p><strong>Results: </strong>The cohort included 3,812 TG and 38,120 controls. Before transgender diagnosis, the incidence rate (IR) of type 1 diabetes was significantly higher in transmasculine persons (TM, n=1,993) compared to controls of same birth sex: IRR= 1.98 (1.16;3.36). In transfeminine persons (TF, n=1,819) vs. controls of same birth sex, the IRR for type 1 diabetes was 1.66 (1.05;2.61) and for any autoimmune disease 1.35 (1.04;1.77). Higher incidence of any autoimmune disease in TG was associated with higher age, medical morbidity, and psychiatric disease.After transgender diagnosis, the IRR for thyroid disease was 1.98 (1.09;3.61) in TF vs. controls of same birth sex, whereas the IRR for remaining autoimmune outcomes were comparable between TG and controls of same birth sex. TM using GAHT had higher incidence of autoimmune disease 2.50 (1.10;5.67) compared to nonusers.</p><p><strong>Conclusion: </strong>Higher incidence of type 1 diabetes in TG compared to cisgender controls could be attenuated by transgender care.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-03-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143630254","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":"Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.","authors":"Paul Benjamin Loughrey, Nadira B Mothojakan, Donato Iacovazzo, Ankit Arni, Elena D Aflorei, Giorgio Arnaldi, Anne Barlier, Albert Beckers, Mariana F Bizzi, Philippe Chanson, Jakob Dal, Adrian F Daly, Mary N Dang, Alessia David, Matheus de Oliveira Andrade, Tobias Else, Marianne S Elston, Amy Evans, Francesco Ferrau, Simona Fica, Daniel Flanagan, Monica R Gadelha, Ashley B Grossman, Sonal Kapur, Bernard Khoo, Ajith V Kumar, Chandan Kumar-Sinha, Ronald M Lechan, Mark Ludman, Louise A Metherell, Dragana Miljic, Vishnou Mourougavelou, Madalina Musat, Gianluca Occhi, Martina Owens, Ionela Pascanu, Sergio V B Pinheiro, Serban Radian, Antonio Ribeiro-Oliveira, Christof Schöfl, Kashyap A Patel, Laura C Hernández-Ramírez, Márta Korbonits","doi":"10.1093/ejendo/lvaf044","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf044","url":null,"abstract":"<p><strong>Objective: </strong>Heterozygous germline loss-of-function variants in AIP are associated with young-onset growth hormone and/or prolactin-secreting pituitary tumours. However, the pathogenic role of the c.911G>A; p.(Arg304Gln) (R304Q) AIP variant has been controversial. Recent data from public exome/genome databases show this variant is not infrequent. The objective of this work was to reassess the pathogenicity of R304Q based on clinical, genomic and functional assay data.</p><p><strong>Design, materials and methods: </strong>Data were collected on published R304Q pituitary neuroendocrine tumour cases, and from International Familial Isolated Pituitary Adenoma Consortium R304Q cases (n=38, R304Q cohort). Clinical features, population cohort frequency, computational analyses, prediction models, presence of loss-of-heterozygosity and in vitro/in vivo functional studies were assessed and compared to data from pathogenic/likely pathogenic AIP variant patients (AIPmut cohort, n=184).</p><p><strong>Results: </strong>Of 38 R304Q patients, 61% (23/38) had growth hormone excess, in contrast to 80% of AIPmut cohort (147/184, p<0.001). R304Q cohort was older at disease onset and diagnosis than the AIPmut cohort (median (quartiles) onset: 25y (16-35) vs 16y (14-23), p<0.001; median (quartiles) diagnosis: 36y (24-44) vs 21y (15-29), p<0.001). R304Q is present in gnomADv2.1 (0.31%) and UK Biobank (0.16%), including three persons with homozygous R304Q. No loss-of-heterozygosity was detected in four R304Q pituitary neuroendocrine tumour samples. In silico predictions and experimental data were conflicting.</p><p><strong>Conclusions: </strong>Evidence suggests that R304Q is not pathogenic for pituitary neuroendocrine tumour. We recommend changing this variant classification to likely benign, and do not recommend pre-symptomatic genetic testing of family members or follow up of already identified unaffected individuals with the R304Q variant.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604461","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":"Low psychosocial burden in patients with paraganglioma syndrome: results from the Head and Neck Paraganglioma Registry in a single center.","authors":"Carolijn J M de Bresser, Johannes A Rijken, Mark J C van Treijen, Bernadette P M van Nesselrooij, Mischa de Ridder, Remco de Bree, Gert J de Borst, Bart-Jeroen Petri, Rachel S van Leeuwaarde","doi":"10.1093/ejendo/lvaf033","DOIUrl":"10.1093/ejendo/lvaf033","url":null,"abstract":"<p><strong>Objective: </strong>Autosomal dominant variants in the succinate dehydrogenase gene (SDHx) are responsible for ∼50% of the development of hereditary paragangliomas and pheochromocytomas (PPGLs). Limited research has been conducted on the psychosocial impact of possessing a hereditary tumor syndrome. In this study, the psychological impact of harboring a genetic variant associated with familial paraganglioma syndrome was assessed. Secondary objectives included the analysis of potential variations in quality of life in (pre)symptomatic stage and comparison with the general Dutch population and other hereditary tumor syndromes.</p><p><strong>Methods: </strong>The first 100 patients from the Head and Neck PGL Registry in the University Medical Center Utrecht were selected. Psychosocial outcomes were assessed cross-sectionally using 5 validated health-related questionnaires: EuroQol 5D-5L, Cancer Worry Scale, Hospital Anxiety and Depression Scale, Modified Fatigue Impact Scale, and EORTC QLQ-C30.</p><p><strong>Results: </strong>No significant differences were observed when stratified for (pre)symptomatic status or genetic variant status. Hereditary PPGLs tended to express greater concern about the development of PPGLs in family members. Complaints in the physical domains were more frequently observed in the sporadic group. The PPGL cohort demonstrated better outcomes when compared to other hereditary tumor syndromes and aligned with the Dutch tariff.</p><p><strong>Conclusion: </strong>The psychosocial impact of harboring a PPGL seems to align with the general healthy Dutch population. Clinical care management involving a multidisciplinary approach and comprehensive counseling on PPGLs and their genetic origins, effectively supports patients. Routine psychological support in the care for these patients does not seem imperative and should be offered indicated on a case-by-case basis.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"257-265"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143491289","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}