European Journal of Endocrinology最新文献

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Letter to the editor: sociodemographic, lifestyle, and medical factors associated with calculated free testosterone concentrations in men: individual participant data meta-analyses. 致编辑:与计算的男性游离睾酮浓度相关的社会人口统计学、生活方式和医学因素:个体参与者数据荟萃分析。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-27 DOI: 10.1093/ejendo/lvaf075
Judith A P Bons, Jacquelien J Hillebrand, Annemieke C Heijboer
{"title":"Letter to the editor: sociodemographic, lifestyle, and medical factors associated with calculated free testosterone concentrations in men: individual participant data meta-analyses.","authors":"Judith A P Bons, Jacquelien J Hillebrand, Annemieke C Heijboer","doi":"10.1093/ejendo/lvaf075","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf075","url":null,"abstract":"","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 4","pages":"L19-L20"},"PeriodicalIF":5.3,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143973287","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
Age-related differences in the clinical features and management of pituitary apoplexy: a cohort study. 垂体卒中临床特征和治疗的年龄相关差异:一项队列研究。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-27 DOI: 10.1093/ejendo/lvaf056
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
{"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":"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 PA Score and radiological findings except for higher frequency of cranial nerve palsy (46.2 vs. 64.9%; P = .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 = .51). Histopathological analysis revealed more necrosis in patients aged ≥65 years (66.7 vs. 80.6%; P = .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":"356-363"},"PeriodicalIF":5.3,"publicationDate":"2025-03-27","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}
引用次数: 0
High-intensity interval training improves insulin sensitivity in individuals with prediabetes. 高强度间歇训练可改善糖尿病前期患者的胰岛素敏感性。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-27 DOI: 10.1093/ejendo/lvaf004
Pernille Mensberg, Clarissa Frandsen, Christian S Carl, Emilie Espersen, Thomas Leineweber, Emil L Larsen, Heidi Storgaard, Kirstine Schlawitz, Torben H D Petersen, Jytte N Poulsen, Frederik Sørensen, Peter M Gørtz, Julie L Forman, Bente Kiens, Filip K Knop, Tina Vilsbøll
{"title":"High-intensity interval training improves insulin sensitivity in individuals with prediabetes.","authors":"Pernille Mensberg, Clarissa Frandsen, Christian S Carl, Emilie Espersen, Thomas Leineweber, Emil L Larsen, Heidi Storgaard, Kirstine Schlawitz, Torben H D Petersen, Jytte N Poulsen, Frederik Sørensen, Peter M Gørtz, Julie L Forman, Bente Kiens, Filip K Knop, Tina Vilsbøll","doi":"10.1093/ejendo/lvaf004","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf004","url":null,"abstract":"<p><strong>Objective: </strong>To examine the separate and combined effects of low-volume high-intensity interval training (HIIT) and walking compared with no training on insulin sensitivity and skeletal metabolic capacity in individuals with prediabetes.</p><p><strong>Design: </strong>Individuals were randomized to: (1) control (no exercise), (2) HIIT (3 × 20 s's cycle sprint 3 times weekly), (3) HIIT + walking (walking >10 000 steps/day), or (4) walking for 12 weeks.</p><p><strong>Methods: </strong>Insulin sensitivity was assessed by an oral glucose tolerance test at baseline and end-of-trial. Additionally, proteins important for mitochondria capacity and insulin sensitivity were measured in the vastus lateralis muscle.</p><p><strong>Results: </strong>Seventy sedentary individuals with prediabetes (women n = 36; age: 60.8 ± 11.3 years (mean ± SD); body mass index: 31.6 ± 4.4 kg/m2; fasting plasma glucose: 6.6 ± 0.8 mmol/L; glycated hemoglobin A1c 5.7 ± 0.4% (39.0 ± 4.3 mmol/mol) were included. Compared with control, peripheral insulin sensitivity (measured by the Cederholm index) was significantly improved with HIIT (estimated treatment difference [ETD]: 18.5% [95% confidence interval (CI): 7.4; 28.3%] and HIIT + walking [ETD: 15.7% (95% CI: 4.4; 25.6%)]), but not with walking alone (ETD: 9.4% [95% CI: -2.5; 19.9%]). Whole-body insulin sensitivity (measured by the Matsuda index) was significantly increased with HIIT + walking (ETD: 28.0% [95% CI: 10.3; 42.3%]) and walking alone (ETD: 42.3% [95% CI: 28.3; 53.5%]), but not with HIIT alone (ETD: 17.0% [95% CI: -4.0; 33.7%]). Protein expression of proteins involved in mitochondrial capacity in skeletal muscle and glucose uptake were most improved with HIIT + walking, and no significant effects were observed with walking alone.</p><p><strong>Conclusions: </strong>Twelve weeks of low-volume HIIT training can improve glucose control and induces adaptations in skeletal muscle important for metabolic health in individuals with prediabetes.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 4","pages":"456-465"},"PeriodicalIF":5.3,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143991651","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
Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis. 重新评估p.(Arg304Gln)错义AIP变异在垂体肿瘤发生中的作用。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-27 DOI: 10.1093/ejendo/lvaf044
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
{"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":"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: </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 with 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 < .001). R304Q cohort was older at disease onset and diagnosis than the AIPmut cohort (median [quartiles] onset: 25 y [16-35] vs 16 y [14-23], P < .001; median [quartiles] diagnosis: 36 y [24-44] vs 21 y [15-29], P < .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":"385-397"},"PeriodicalIF":5.3,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11962913/pdf/","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Resolution of paradoxical bilateral aldosterone suppression with mass spectrometry. 质谱法解决双侧醛固酮抑制矛盾。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-27 DOI: 10.1093/ejendo/lvaf079
Taweesak Wannachalee, Peeradon Vibhatavata, Sonja Konzen, Chaelin Lee, Carmen Gherasim, James J Shields, Adina F Turcu
{"title":"Resolution of paradoxical bilateral aldosterone suppression with mass spectrometry.","authors":"Taweesak Wannachalee, Peeradon Vibhatavata, Sonja Konzen, Chaelin Lee, Carmen Gherasim, James J Shields, Adina F Turcu","doi":"10.1093/ejendo/lvaf079","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf079","url":null,"abstract":"<p><strong>Objective: </strong>Adrenal vein sampling (AVS) is the standard-of-care for primary aldosteronism (PA) subtyping. Paradoxical bilateral aldosterone suppression (BAS), defined by lower aldosterone/cortisol ratio in both adrenal veins compared to peripheral circulation, has been reported in AVS studies, but the underlying causes remain poorly understood. We aimed to assess the prevalence of BAS in AVS without and with cosyntropin stimulation based on clinical immunoassays, and to probe the BAS results using liquid chromatography mass spectrometry (LC-MS/MS).</p><p><strong>Methods: </strong>We retrospectively assessed the BAS prevalence among patients with confirmed PA who underwent AVS in a referral center between 2015 and 2023. Simultaneous AVS was performed both before and after cosyntropin stimulation. LC-MS/MS quantitation of cortisol and aldosterone was performed in patients with serum available.</p><p><strong>Results: </strong>Of 402 patients, BAS was observed in 102 (25%): Pre-cosyntropin in 31, post-cosyntropin in 48 (including 10 who did not meet successful catheterization criteria in baseline samples), and both pre- and post- cosyntropin in 23. Paradoxically, AVS indicated lateralized PA in 36% and 43% of patients with BAS based on pre- and post-cosyntropin data, respectively. Using LC-MS/MS, BAS was not present in 42/53 (79%) patients with serum available. Compared to LC-MS/MS, immunoassays overestimated cortisol across the analytical range. In contrast, for aldosterone, immunoassays overestimated low concentrations, but underestimated high concentrations, such as those measured in adrenal veins.</p><p><strong>Conclusions: </strong>Apparent BAS derives primarily from artifacts in clinical immunoassays. These data caution against assuming that aldosterone suppression indicates contralateral aldosterone lateralization in cases with partial adrenal vein catheterization failure.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 4","pages":"511-518"},"PeriodicalIF":5.3,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12037276/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143973300","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
Autoimmune diseases in 3812 Danish transgender persons and 38 120 cisgender controls before and after transgender care: a register-based cohort study. 3812名丹麦跨性别者和38120名顺性别对照者在跨性别护理前后的自身免疫性疾病基于登记的队列研究。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-27 DOI: 10.1093/ejendo/lvaf051
Dorte Glintborg, Jens-Jakob Kjer Møller, Katrine Hass Rubin, Louise Lehmann Christensen, Marianne Skovsager Andersen
{"title":"Autoimmune diseases in 3812 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":"10.1093/ejendo/lvaf051","url":null,"abstract":"<p><strong>Objective: </strong>The risk of autoimmune disease could be increased in transgender (TG) persons and could be affected by TG care. We assessed the risk of autoimmune diseases in TG compared with controls before and after TG 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 (International Classification of Diseases (ICD)-10 diagnosis and/or medical treatment for type 1 diabetes or thyroid disease).</p><p><strong>Results: </strong>The cohort included 3812 TG and 38 120 controls. Before TG diagnosis, the incidence rate (IR) of type 1 diabetes was significantly higher in transmasculine persons (TM, n = 1993) compared with controls of same birth sex: incidence rate ratio (IRR) = 1.98 (1.16; 3.36). In transfeminine persons (TF, n = 1819) versus 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 TG diagnosis, the IRR for thyroid disease was 1.98 (1.09; 3.61) in TF versus 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 with nonusers.</p><p><strong>Conclusion: </strong>Higher incidence of type 1 diabetes in TG compared with cisgender controls could be attenuated by TG care.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"408-417"},"PeriodicalIF":5.3,"publicationDate":"2025-03-27","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}
引用次数: 0
Prioritization of predisposition genes for familial non-medullary thyroid cancer by whole-genome sequencing. 通过全基因组测序确定家族性非髓样甲状腺癌易感基因的优先级。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-27 DOI: 10.1093/ejendo/lvaf045
Aayushi Srivastava, Diamanto Skopelitou, Beiping Miao, Sara Giagiobbe, Nagarajan Paramasivam, Abhishek Kumar, Chiara Diquigiovanni, Elena Bonora, Obul Reddy Bandapalli, Asta Försti, Kari Hemminki
{"title":"Prioritization of predisposition genes for familial non-medullary thyroid cancer by whole-genome sequencing.","authors":"Aayushi Srivastava, Diamanto Skopelitou, Beiping Miao, Sara Giagiobbe, Nagarajan Paramasivam, Abhishek Kumar, Chiara Diquigiovanni, Elena Bonora, Obul Reddy Bandapalli, Asta Försti, Kari Hemminki","doi":"10.1093/ejendo/lvaf045","DOIUrl":"10.1093/ejendo/lvaf045","url":null,"abstract":"<p><strong>Objective: </strong>Thyroid cancer (TC) is the most common endocrine malignancy, with 90%-95% of the cases representing non-medullary thyroid cancer (NMTC). Familial cases account only for a few of all cases and the underlying genetic causes are still poorly understood.</p><p><strong>Methods: </strong>We whole-genome sequenced affected and unaffected members of an Italian NMTC family and applied our in-house developed Familial Cancer Variant Prioritization Pipeline (FCVPPv2) which prioritized 12 coding variants. We refined this selection using the VarSome American College of Medical Genetics and Genomics (ACMG) implementation, SNAP2 predictions and further in silico scores.</p><p><strong>Results: </strong>We prioritized 4 possibly pathogenic variants in 4 genes including Ret proto-oncogene (RET), polypeptide N-acetylgalactosaminyltransferase 10 (GALNT10), ubinuclein-1 (UBN1), and prostaglandin I2 receptor (PTGIR). The role of RET point mutations in medullary thyroid carcinoma is well established. Similarly, somatic rearrangements of RET are known in papillary TC, a specific histotype of NMTC. In contrast to RET, no germline variants in PTGIR, GALNT10, or UBN1 have been linked to the development of TC to date. However, alterations in these genes have been shown to affect pathways related to cell proliferation, apoptosis, growth, and differentiation, as well as posttranslational modification and gene regulation. A thorough review of the available literature together with computational evidence supported the interpretation of the 4 shortlisted variants as possibly disease-causing in this family.</p><p><strong>Conclusions: </strong>Our results implicate the first germline variant in RET in a family with NMTC as well as the first germline variants in PTGIR, GALNT10, and UBN1 in TC.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 4","pages":"398-407"},"PeriodicalIF":5.3,"publicationDate":"2025-03-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143771662","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
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 : 2025-03-25 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":"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}
引用次数: 0
Low psychosocial burden in patients with paraganglioma syndrome: results from the Head and Neck Paraganglioma Registry in a single center. 副神经节瘤综合征患者的低心理社会负担。头颈部副神经节瘤单中心登记结果。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-03 DOI: 10.1093/ejendo/lvaf033
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
{"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}
引用次数: 0
Retraction of: Conventional steroids vs. dual-release hydrocortisone on metabolic, cardiovascular, and bone outcomes in adrenal insufficiency: a 10-year study. 常规类固醇与双释放氢化可的松对肾上腺功能不全患者代谢、心血管和骨骼预后的影响:一项为期10年的研究。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-03 DOI: 10.1093/ejendo/lvaf049
{"title":"Retraction of: Conventional steroids vs. dual-release hydrocortisone on metabolic, cardiovascular, and bone outcomes in adrenal insufficiency: a 10-year study.","authors":"","doi":"10.1093/ejendo/lvaf049","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf049","url":null,"abstract":"","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":"192 3","pages":"Z1"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143656466","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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