European Journal of Endocrinology最新文献

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Predicting Treatment Outcome in Congenital Adrenal Hyperplasia Using Urine Steroidomics and Machine Learning. 使用尿类固醇组学和机器学习预测先天性肾上腺增生的治疗结果。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-06-14 DOI: 10.1093/ejendo/lvaf121
Ozair Abawi, Grit Sommer, Michael Grössl, Ulrike Halbsguth, Therina du Toit, Sabine E Hannema, Christiaan de Bruin, Evangelia Charmandari, Erica L T van den Akker, Alexander B Leichtle, Christa E Flück
{"title":"Predicting Treatment Outcome in Congenital Adrenal Hyperplasia Using Urine Steroidomics and Machine Learning.","authors":"Ozair Abawi, Grit Sommer, Michael Grössl, Ulrike Halbsguth, Therina du Toit, Sabine E Hannema, Christiaan de Bruin, Evangelia Charmandari, Erica L T van den Akker, Alexander B Leichtle, Christa E Flück","doi":"10.1093/ejendo/lvaf121","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf121","url":null,"abstract":"<p><strong>Objective: </strong>Treatment monitoring of individuals with congenital adrenal hyperplasia (CAH) remains unsatisfactory. Comprehensive 24h urine steroid profiling provides detailed insight into adrenal steroid pathways. We investigated whether 24h urine steroid profiling can predict treatment control in children and adolescents with CAH using machine learning (ML).</p><p><strong>Design: </strong>Prospective observational cohort study.</p><p><strong>Methods: </strong>This study included children with 21-hydroxylase deficiency. On 24h urines of 2 consecutive visits 40 steroids were measured by gas chromatography-mass spectrometry. Treatment outcome was clinically classified as undertreated, optimally treated or overtreated. We used sparse partial least-squares discriminant analysis (sPLS-DA) to investigate prediction of treatment outcome. We computed area under the ROC-curve (AUC) of two sPLS-DA models: (1) using only 24h urine metabolites, (2) adding clinical variables.</p><p><strong>Results: </strong>We included 112 visits (68 optimal, 44 undertreatment) from 59 patients: 27 (46%) girls, 46 (78%) classic CAH, 19 (32%) prepubertal. Mean age at first visit was 11.9 ± 4.0 years and mean BMI SDS 0.6 ± 1.1. SPLS-DA using 24h urine metabolites showed clear clustering of optimally treated patients on two components, while undertreated patients were more heterogenous (AUC 0.88). The model selected pregnanetriol and 17α-hydroxypregnanolone contributing to excluding optimal treatment and 5 metabolites contributing to excluding undertreatment: 17β-estradiol, cortisone, tetrahydroaldosterone, androstenetriol, and etiocholanolone. Addition of clinical variables marginally improved classification (AUC 0.90).</p><p><strong>Conclusions: </strong>Using ML on 24h urine steroid profiling predicted treatment outcome in children with CAH, even in the absence of clinical data, suggesting that routine comprehensive 24h urine steroid profiling could improve treatment monitoring in CAH.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293567","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
Diagnostic Strategies for Central Adrenal Insufficiency in Clinical Practice: Authors' response. 临床实践中枢性肾上腺功能不全的诊断策略:作者的回应。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-06-14 DOI: 10.1093/ejendo/lvaf126
Linus Haberbosch, Christian J Strasburger, Lukas Maurer, Knut Mai
{"title":"Diagnostic Strategies for Central Adrenal Insufficiency in Clinical Practice: Authors' response.","authors":"Linus Haberbosch, Christian J Strasburger, Lukas Maurer, Knut Mai","doi":"10.1093/ejendo/lvaf126","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf126","url":null,"abstract":"","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293565","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
Unexpected discrepancies between steroid intra-tissular content in adrenal tumors and clinical diagnosis of steroid excess. 肾上腺肿瘤组织内类固醇含量与类固醇过量临床诊断之间的意外差异。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-06-14 DOI: 10.1093/ejendo/lvaf129
Fidéline Bonnet-Serrano, Louis Thomeret, Nesrine Benanteur, Patricia Vaduva, Florian Violon, Lucas Bouys, Bruno Ragazzon, Annabel Berthon, Karine Perlemoine, Hortense Wilmot-Roussel, Corinne Zientek, Samir Nakib, Martin Gaillard, Mathilde Sibony, Christelle Laguillier-Morizot, Marie-Claude Menet, Laurence Guignat, Rossella Libe, Lionel Groussin, Jean Guibourdenche, Anne Jouinot, Guillaume Assié, Jérôme Bertherat
{"title":"Unexpected discrepancies between steroid intra-tissular content in adrenal tumors and clinical diagnosis of steroid excess.","authors":"Fidéline Bonnet-Serrano, Louis Thomeret, Nesrine Benanteur, Patricia Vaduva, Florian Violon, Lucas Bouys, Bruno Ragazzon, Annabel Berthon, Karine Perlemoine, Hortense Wilmot-Roussel, Corinne Zientek, Samir Nakib, Martin Gaillard, Mathilde Sibony, Christelle Laguillier-Morizot, Marie-Claude Menet, Laurence Guignat, Rossella Libe, Lionel Groussin, Jean Guibourdenche, Anne Jouinot, Guillaume Assié, Jérôme Bertherat","doi":"10.1093/ejendo/lvaf129","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf129","url":null,"abstract":"<p><strong>Objective: </strong>Adrenocortical tumors (ACT) morbidity is associated with steroid secretion, depending on tumor type. Indeed, adrenal steroidogenesis is a finely regulated process, altered in ACT. These alterations are usually characterized by blood steroid assays, also depending on steroid gonadal production and metabolism. Our aim was to determine steroid content directly in ACT tissues and to compare it with clinical diagnosis of steroid excess.</p><p><strong>Methods: </strong>A profile of 13 steroids was analyzed in UPLC-MS/MS (ThermoFisher Scientific®) in frozen tissue samples from 75 ACT, 7 Cushing's disease and 9 normal adrenals.</p><p><strong>Results: </strong>Steroid levels were 10 to 1000 times higher in tissue from normal adrenal than normal concentrations expected in blood. Concentrations ratios between tissue from normal adrenal and blood reference values were lower for distal products than for steroid precursors. In adrenocortical cancers, intra-tissular steroid content was lower than in unilateral benign tumors despite clear clinical steroid excess. Unexpectedly, in overt-Cushing adenomas, intra-tissular cortisol levels were not higher and androstenedione levels were not lower than in non-functioning adenomas. Adrenal differentiation score based on transcriptome was well correlated with intra-tissular cortisol levels.</p><p><strong>Conclusion: </strong>Discrepancies observed between steroid levels measured in ACT tissue and clinical diagnosis of steroid excess suggest a dysregulation of steroid export depending on tumor type, opening new perspectives for diagnosis and treatment of steroid excess.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293568","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
Letter to the Editor: Diagnostic Strategies for Central Adrenal Insufficiency in Clinical Practice. 致编辑的信:临床实践中枢性肾上腺功能不全的诊断策略。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-06-14 DOI: 10.1093/ejendo/lvaf125
I Kraljevic, M Solak, A Balasko, T Skoric Polovina, D Kastelan
{"title":"Letter to the Editor: Diagnostic Strategies for Central Adrenal Insufficiency in Clinical Practice.","authors":"I Kraljevic, M Solak, A Balasko, T Skoric Polovina, D Kastelan","doi":"10.1093/ejendo/lvaf125","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf125","url":null,"abstract":"","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144293566","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
Biallelic pathogenic variants in POMC can cause combined pituitary hormonal deficiency associated with severe obesity. POMC的双等位致病变异可引起与严重肥胖相关的联合垂体激素缺乏。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-06-13 DOI: 10.1093/ejendo/lvaf127
Géraldine Vitellius, Christine Poitou, Karine Clément, Jean Michel Petit, Blandine Gatta Cherifi, Souhila Amanzougarene, Mehdi Derhourhi, Alexandru Saveanu, Philippe Froguel, Amélie Bonnefond, Brigitte Delemer, Lauriane Le Collen
{"title":"Biallelic pathogenic variants in POMC can cause combined pituitary hormonal deficiency associated with severe obesity.","authors":"Géraldine Vitellius, Christine Poitou, Karine Clément, Jean Michel Petit, Blandine Gatta Cherifi, Souhila Amanzougarene, Mehdi Derhourhi, Alexandru Saveanu, Philippe Froguel, Amélie Bonnefond, Brigitte Delemer, Lauriane Le Collen","doi":"10.1093/ejendo/lvaf127","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf127","url":null,"abstract":"<p><strong>Objective: </strong>Biallelic variants in the pro-opiomelanocortin gene (POMC) can cause hypocortisolism, hypopigmentation, and early-onset obesity. Following the identification of two patients of combined pituitary hormone deficiency (CPHD), we investigated the prevalence of this association among carriers of rare pathogenic or likely pathogenic (P/LP) POMC variants.</p><p><strong>Design: </strong>Case report and systematic literature review.</p><p><strong>Methods: </strong>Genetic analysis was conducted in a family with two cousins with childhood-onset obesity and CPHD. We assessed CPHD in carriers for biallelic pathogenic POMC variants using data from the literature and Human Gene Mutation Database (HGMD). Clinical and biological data were collected, including pituitary axis involvement, obesity onset age, and pituitary imaging results.</p><p><strong>Results: </strong>The two cousins, compound heterozygous for POMC variants, developed CPHD following initial hypocortisolism, with subsequent hypothyroidism, growth hormone deficiency, and hypogonadism. Among 41 patients with biallelic POMC variants identified in the literature, 20 had rare homozygous/compound heterozygous P/LP POMC variants and detailed endocrine evaluations. Of these, 40% presented with CPHD, always associated with early-onset severe obesity and hypocortisolism. Growth hormone deficiency was the most frequent (75%), followed by thyrotropic and gonadotropic deficiencies (62.5%). No anomalies were revealed in pituitary imaging. Two patients recovered the gonadotropic axis after treatment with the MC4R agonist.</p><p><strong>Conclusion: </strong>These findings underscore the potential for CPHD to occur in carriers of biallelic pathogenic POMC variants. Sequencing the full POMC, including coding and regulatory regions, is crucial in CPHD cases, alongside evaluating all pituitary axes in neonatal hypocortisolism. Beyond weight regulation, Setmelanotide may modulate hypothalamic-pituitary function, with implications for fertility.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144289402","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
Large-scale screening and functional study of DUOXA2 variant in 599 Chinese patients with congenital hypothyroidism. 599例中国先天性甲状腺功能减退症患者DUOXA2变异的大规模筛查和功能研究
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-06-13 DOI: 10.1093/ejendo/lvaf123
Hai-Yang Zhang, Cao-Xu Zhang, Feng-Yao Wu, Chen-Yang Wu, Fei-Yang Zhang, Liu Yang, Yue Zhang, Huai-Dong Song, Shuang-Xia Zhao
{"title":"Large-scale screening and functional study of DUOXA2 variant in 599 Chinese patients with congenital hypothyroidism.","authors":"Hai-Yang Zhang, Cao-Xu Zhang, Feng-Yao Wu, Chen-Yang Wu, Fei-Yang Zhang, Liu Yang, Yue Zhang, Huai-Dong Song, Shuang-Xia Zhao","doi":"10.1093/ejendo/lvaf123","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf123","url":null,"abstract":"<p><strong>Objective: </strong>Dual oxidase maturation factor 2 (DUOXA2) is necessary for proper cellular localization and maturation of functional dual oxidase 2 (DUOX2). It is an attractive candidate gene for congenital hypothyroidism (CH). This study aimed to identify DUOXA2 variants in Chinese CH patients, analyze the function of the variants, and explore the genotype-phenotype relationship.</p><p><strong>Design and methods: </strong>A total of 599 patients with CH were recruited for screening DUOXA2 variants by performing targeted next-generation sequencing or whole exome sequencing. Detailed clinical data were collected for statistical analysis. The biological function of the identified DUOXA2 variants was detected in vitro.</p><p><strong>Results: </strong>A total of 13 variants including six novel variants were detected in the DUOXA2 gene, showing a 6.7% rate in variant carrying (40/599). Ten variants disrupted the enzyme activity of DUOX2, resulting in impaired H2O2 production. In addition, we found that oligogenic mutation patterns within the DUOX system were prevalent among Chinese patients with CH. The cases in the DUOXA2 mutated group were milder and more likely to manifest as normal thyroid size than those in the nonmutated group.</p><p><strong>Conclusions: </strong>Our study greatly expanded the variant spectrum of the DUOXA2 gene. Pedigree and in vitro functional studies improved the accuracy of genetic counseling. The genotype-phenotype relationship of DUOXA2 broadened the understanding of the CH phenotype spectrum.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144283042","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
Clinical Evaluation and Molecular Analysis of Genetic and Epigenetic Inactivation Defects in GNAS in children: A multicenter experience in China. 中国儿童GNAS遗传和表观遗传失活缺陷的临床评价和分子分析:一个多中心的经验。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-06-12 DOI: 10.1093/ejendo/lvaf120
Xiaoqin Xu, Yingxiao Shen, Wei Yang, Haiyan Wei, Ting Chen, Linqi Chen, Zhihua Wang, Hui Yao, Jianping Zhang, Ruimin Chen, Yan Sun, Guanping Dong, Ke Huang, M A Levine, Junfen Fu, Wei Wu
{"title":"Clinical Evaluation and Molecular Analysis of Genetic and Epigenetic Inactivation Defects in GNAS in children: A multicenter experience in China.","authors":"Xiaoqin Xu, Yingxiao Shen, Wei Yang, Haiyan Wei, Ting Chen, Linqi Chen, Zhihua Wang, Hui Yao, Jianping Zhang, Ruimin Chen, Yan Sun, Guanping Dong, Ke Huang, M A Levine, Junfen Fu, Wei Wu","doi":"10.1093/ejendo/lvaf120","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf120","url":null,"abstract":"<p><strong>Objective: </strong>We assessed pediatric patients with clinically diagnosed pseudohypoparathyroidism (PHP), pseudopseudohypoparathyroidism (PPHP), and progressive osseous heteroplasia (POH) for genetic and epigenetic defects in GNAS and characterized their clinical features.</p><p><strong>Design: </strong>We enrolled a total of 87 patients in our study, 70 patients underwent genetic analysis. We compared the clinical manifestations according to the previously reported inactivating PTH/PTHrP signalling disorder (iPPSD) classification combined with conventional clinical classification.</p><p><strong>Results: </strong>We identified pathogenic variants within exons 1-13 of GNAS in 31 patients (iPPSD2), with the majority presenting as PHP1A, and two cases each of PPHP and POH. GNAS imprinting defects were found in 39 patients (iPPSD3), with the clinical types including 11 cases of PHP1A and 28 cases of PHP1B. Sluggish height growth and hypocalcemia-related symptoms were common presenting complaints in PHP1A, while hypocalcemia-related symptoms were typical in PHP1B. Both iPPSD2 and iPPSD3 patients had variable manifestations of Albright hereditary osteodystrophy (AHO), but heterotopic ossification was limited to iPPSD2. We compared the clinical characteristics of these iPPSD2 patients presented as PHP1A in different cohorts. The AHO phenotypes varied among the four cohorts. Three PHP1A patients were treated with recombinant human growth hormone and showed improved height and growth rates.</p><p><strong>Conclusions: </strong>Our findings suggest that molecular screening can be highly specific in patients with parathyroid hormone resistance. Furthermore,We found significant overlap in the clinical features between patients with iPPSD2 and iPPSD3, suggesting that a combination of molecular genetic diagnosis and clinical evaluation may be the better approach for fully understanding GNAS inactivation defects disorders.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274501","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
Disrupted ACTH and Cortisol Response to Osmotic and Non-Osmotic Stress in Patients with AVP-Deficiency. avp缺乏症患者对渗透和非渗透应激的ACTH和皮质醇反应中断。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-06-11 DOI: 10.1093/ejendo/lvaf119
Andi Nikaj, Cihan Atila, Irina Chifu, Emanuele Ferrante, Zoran Erlic, Juliana B Drummond, Rita Indirli, Roosmarijn Drexhage, Andrew S Powlson, Mark Gurnell, Beatriz Santana Soares Rocha, Johannes Hofland, Felix Beuschlein, Martin Fassnacht, Bettina Winzeler, Julie Refardt, Mirjam Christ-Crain
{"title":"Disrupted ACTH and Cortisol Response to Osmotic and Non-Osmotic Stress in Patients with AVP-Deficiency.","authors":"Andi Nikaj, Cihan Atila, Irina Chifu, Emanuele Ferrante, Zoran Erlic, Juliana B Drummond, Rita Indirli, Roosmarijn Drexhage, Andrew S Powlson, Mark Gurnell, Beatriz Santana Soares Rocha, Johannes Hofland, Felix Beuschlein, Martin Fassnacht, Bettina Winzeler, Julie Refardt, Mirjam Christ-Crain","doi":"10.1093/ejendo/lvaf119","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf119","url":null,"abstract":"<p><strong>Objective: </strong>Arginine vasopressin (AVP), synthesized in the hypothalamus and stored in the posterior pituitary, regulates osmotic balance and stress responses. During stress, AVP enhances corticotropin-releasing hormone (CRH)-stimulated adrenocorticotropic hormone (ACTH) secretion, with cortisol and AVP providing negative feedback regulation. Disruption in AVP production might impair this feedback, leading to sustained cortisol elevations. The current analysis aims to investigate the effect of hypertonic saline (osmotic stress) and arginine infusion (non-osmotic stress) on the HPA axis response between patients with AVP-Deficiency and primary polydipsia (PP).</p><p><strong>Design: </strong>Secondary sub-analysis of a prospective diagnostic study conducted at seven tertiary centers that utilised hypertonic saline and arginine infusion for diagnostic evaluation of patients with hypotonic polyuria-polydipsia syndrome.</p><p><strong>Methods: </strong>ACTH and cortisol levels were measured at baseline and expected peak for both stimulation tests and groups. A pooled linear mixed-effects model (without stimulation type as a variable) was used to compare hormone responses between groups, followed by stimulation test-specific linear regression models, to assess differences between both tests.</p><p><strong>Results: </strong>20 patients with AVP-Deficiency and 10 patients with PP were included. In the pooled analysis, patients with AVP-Deficiency showed a significantly greater increase in ACTH (7.0 ng/L [95% CI 0.8-13.3], P=0.04) and cortisol (106 nmol/L [95% CI 24-188], P=0.02). Upon hypertonic saline, the changes in plasma ACTH (0.3 ng/l [95% CI -10.0 to 11.0]) and cortisol (78 nmol/l [95% CI -32 to 188]) were similar. However, upon arginine infusion, ACTH (9.2 ng/L [95% CI 1.8-17]) and cortisol (141 nmol/L [95% CI 40-242]) increases were significantly greater in patients with AVP-Deficiency.</p><p><strong>Conclusion: </strong>An altered ACTH and cortisol response pattern to stress in patients with AVP-Deficiency was observed, indicating impaired regulation of the HPA axis. This alteration was primarily driven by differences observed for non-osmotic stress.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144274502","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
Expert Consensus on the Primary Aldosteronism Severity Classification (EC-PASC) and its Strategic Application in Indicating Adrenal Venous Sampling. 原发性醛固酮增多症严重程度分级(EC-PASC)的专家共识及其在肾上腺静脉采样指示中的策略应用。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-06-09 DOI: 10.1093/ejendo/lvaf117
Masanori Murakami, Mitsuhide Naruse, Hiroki Kobayashi, Mirko Parasiliti-Caprino, Fabio Bioletto, Denise Brüdgam, Isabel Stüfchen, Martin Reincke, Matthieu St-Jean, Ivana Kraljevic, Darko Kastelan, Pasi I Nevalainen, Marta Araujo-Castro, Norlela Sukor, Michiel F Nijhoff, Joanna Matrozova, Oskar Ragnarsson, Zulfiya Shafigullina, Niina Matikainen, Athina Markou, George Piaditis, Shoichiro Izawa, Takuyuki Katabami, Takamasa Ichijo, Akiyo Tanabe, Mika Tsuiki, Miki Kakutani, Norio Wada, Seizaburo Masuda, Alessandra Violet Bacca, Felix Beuschlein, Giuseppe Maiolino, Henrik Falhammar, Marianne A Grytaas, Kristian Løvås, Madson Q Almeida, Raluca Maria Furnica, Troy Puar, Piotr Kmieć, Stefano Masi, Isabelle Bourdeau, Amar Laurence, Michael Conall Dennedy, Francesco Fallo, Jaap Deinum, Sam O'Toole, Tetsuya Yamada, Marcus Quinkler, André Lacroix, Tomaz Kocjan
{"title":"Expert Consensus on the Primary Aldosteronism Severity Classification (EC-PASC) and its Strategic Application in Indicating Adrenal Venous Sampling.","authors":"Masanori Murakami, Mitsuhide Naruse, Hiroki Kobayashi, Mirko Parasiliti-Caprino, Fabio Bioletto, Denise Brüdgam, Isabel Stüfchen, Martin Reincke, Matthieu St-Jean, Ivana Kraljevic, Darko Kastelan, Pasi I Nevalainen, Marta Araujo-Castro, Norlela Sukor, Michiel F Nijhoff, Joanna Matrozova, Oskar Ragnarsson, Zulfiya Shafigullina, Niina Matikainen, Athina Markou, George Piaditis, Shoichiro Izawa, Takuyuki Katabami, Takamasa Ichijo, Akiyo Tanabe, Mika Tsuiki, Miki Kakutani, Norio Wada, Seizaburo Masuda, Alessandra Violet Bacca, Felix Beuschlein, Giuseppe Maiolino, Henrik Falhammar, Marianne A Grytaas, Kristian Løvås, Madson Q Almeida, Raluca Maria Furnica, Troy Puar, Piotr Kmieć, Stefano Masi, Isabelle Bourdeau, Amar Laurence, Michael Conall Dennedy, Francesco Fallo, Jaap Deinum, Sam O'Toole, Tetsuya Yamada, Marcus Quinkler, André Lacroix, Tomaz Kocjan","doi":"10.1093/ejendo/lvaf117","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf117","url":null,"abstract":"<p><strong>Objective: </strong>Severity classifications are essential for many diseases to prioritize patient management tasks such as diagnosis, treatment, and follow-up. Primary aldosteronism (PA), a common cause of secondary hypertension, lacks a standardized severity scale despite generally requiring invasive diagnostics like adrenal venous sampling (AVS). This study aimed to develop a global expert consensus-based classification for PA severity to improve clinical decision-making.</p><p><strong>Methods: </strong>A panel of 45 international experts from 40 centers across four continents used the Delphi method to create a consensus severity classification for PA. This classification was then applied retrospectively to 2,593 PA patients from 26 centers to assess its association with the disease subtype.</p><p><strong>Results: </strong>After four rounds, the Primary Aldosteronism Severity Classification (PASC), which integrates biochemical and clinical parameters including serum potassium, blood pressure, and basal plasma aldosterone concentration, was established. PASC classifies PA into mild (3 and 4 points), moderate (5 - 7 points), and severe (8 and 9 points). Among the cohort from 26 centers, 13.9%, 63.0%, and 23.1% were classified as mild, moderate, and severe, respectively, aligning with lateralized subtype prevalence rates of 14.7%, 44.6%, and 72.6%.</p><p><strong>Conclusion: </strong>PASC is a newly developed simplified, semi-quantitative classification of PA severity. The correlation between PASC and lateralized PA subtype supports its potential to provide graded recommendations of AVS prior to surgical indication in each patient.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144247070","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
Growth hormone excess in children with neurofibromatosis and optic pathway glioma, an underdiagnosed condition: experience with long-acting treatment. 生长激素过量的儿童与神经纤维瘤病和视神经胶质瘤,一个未被诊断的条件:经验与长效治疗。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-06-04 DOI: 10.1093/ejendo/lvaf113
Paula Casano-Sancho, Paula-Ximena Molina, Anna Valls, Salvador Hector
{"title":"Growth hormone excess in children with neurofibromatosis and optic pathway glioma, an underdiagnosed condition: experience with long-acting treatment.","authors":"Paula Casano-Sancho, Paula-Ximena Molina, Anna Valls, Salvador Hector","doi":"10.1093/ejendo/lvaf113","DOIUrl":"https://doi.org/10.1093/ejendo/lvaf113","url":null,"abstract":"<p><p>Growth hormone excess (GHE) in children with neurofibromatosis type 1 (NF-1) has been reported in some cases. The prevalence of GHE in NF-1 has not been described and treatment with long-acting somatostatin analogues (SSA) has not been well characterized.</p><p><strong>Objective: </strong>To describe in children with NF-1/OPG the prevalence of GHE, and response to SSA.</p><p><strong>Results: </strong>From 379 children with NF-1, 80 were diagnosed of OPG (21%). In a prospective follow up 8.7% were identified as having GHE; all were prepubertal, with a mean age of 4.4±1.9 years. The mean height was + 0.86 ± 0.76 SD above the mid parental height; growth velocity +4.07 SD, mean IGF-1 > 1SD (457.8±151.3 ng/mL). In 4 patients the GHE was observed during tumor progression. The first two patients were initially treated with short- acting somatostatin analogues (SSA) (1.5 μg/kg/day). After confirming tolerability, it was replaced by long- acting somatostatin analogues (SSA) (10 mg/28 days). Four were initially treated with (10 mg/28 d). 6/7 patients showed a normalization of IGF-1 and growth velocity. Treatment could be withdrawn in all patients after 19.9 ± 4.6 months. The patients remained stable for 48 months (24-60). Except for mild diarrhea, no other adverse events were observed.</p><p><strong>Conclusions: </strong>We should consider the risk GHE in patients with NF-1-OPG, as this may be a cause for concern indicating tumour progression. Treatment with long-acting somatostatin analogues (SSA) was effective and safe. After treatment, the patients' growth and analytical parameters remained within normal range, confirming the reversibility of growth hormone excess.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":""},"PeriodicalIF":5.3,"publicationDate":"2025-06-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144224713","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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