Endocrine Connections最新文献

{"title":"Serum leptin and its relation to body composition, puberty, and metabolism in severe obesity.","authors":"Sabina Galiniak, Marek Biesiadecki, Rafał Podgórski, Natalia Dąbek, Ewa Gramatyka-Drążek, Ewelina Gaweł, Michael B Ranke, Bertram Flehmig, Martin Wabitsch, Stephanie Brandt, Elżbieta Petriczko, Małgorzata Wójcik, Ewa Małecka-Tendera, Mirosław Bik-Multanowski, Agnieszka Zachurzok, Artur Mazur","doi":"10.1530/EC-25-0194","DOIUrl":"10.1530/EC-25-0194","url":null,"abstract":"<p><p>Childhood severe obesity (SO) is a growing public health concern. Leptin (LEP) and its biologically active fraction (BioLEP) play a key role in energy balance and body mass regulation. Understanding their relationship with anthropometric and metabolic parameters is crucial for improving SO treatment. This study analyzed total LEP, BioLEP, and the BioLEP/LEP ratio in children with SO and their associations with body composition, lipid profile, and pubertal development. The study included 461 children (245 girls and 216 boys) aged 0-19 years with SO. Anthropometric parameters, metabolic indices, and pubertal stages (Tanner scale) were assessed. LEP and BioLEP concentrations were measured using ELISA, and the BioLEP/LEP ratio was calculated. The median LEP concentration was 56.53 ng/mL, and BioLEP was 53.66 ng/mL, with a BioLEP/LEP ratio of 0.94. Girls had significantly higher LEP (64.40 vs 49.66 ng/mL, P < 0.001) and BioLEP (59.90 vs 46.93 ng/mL, P < 0.001) than boys. LEP and BioLEP correlated positively with BMI, waist and hip circumference, and fat mass percentage, while negatively with waist-to-hip ratio and fat-free mass. The BioLEP/LEP ratio correlated positively with insulin and lipid profile parameters (total cholesterol, HDL, and triglycerides). LEP and BioLEP play a significant role in SO, particularly in fat mass regulation. The BioLEP/LEP ratio is more closely linked to lipid metabolism. These findings provide insights into the hormonal and metabolic profile of SO, supporting targeted diagnostic and therapeutic approaches.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12278361/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144526918","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exome sequencing of patients with syndromic tall stature reveals four novel candidate genes.","authors":"Gabriela Jeesoo Kim, Edoarda Vasco de Albuquerque Albuquerque, Raissa C Rezende, Laurana De Polli Cellin, Ana Maria Santillan Vasconez, Ana C V Krepischi, Lucas Santana, Antônio Marcondes Lerario, Vinicius de Souza, Renata Scalco, Alexander A L Jorge","doi":"10.1530/EC-25-0137","DOIUrl":"10.1530/EC-25-0137","url":null,"abstract":"<p><p>This study aimed to evaluate a cohort of patients with syndromic tall stature of unknown etiology via exome sequencing (ES) to identify novel candidate genes for overgrowth conditions. We enrolled 37 patients with heights greater than the 97.7th percentile and syndromic features. The ES analysis first focused on rare deleterious single nucleotide and copy number variants in genes previously associated with overgrowth conditions. For patients in whom diagnosis of a known tall stature disorder could not be achieved, we performed analysis for candidate genes. The search considered deleterious variants in constrained genes that were linked with height in association studies, animal models consistent with the proposed phenotype, and/or variants recurrent in the literature or our cohort. Genetic diagnosis was established in 11 patients. Pathogenic or likely pathogenic variants were identified in FBN1, PTEN, NSD1, SUZ12, CDH8, and DEPDC5. One patient carried a likely pathogenic mutation in FBN2 and a pathogenic mutation in COL5A1. Furthermore, in two patients, we identified large pathogenic deletions confirmed by chromosomal microarray analysis. Candidate gene analysis uncovered four genes potentially associated with tall stature in five patients: PTCH1, SST, KDM4A, and GRB10. PTCH1 and SST were identified in patients with whole gene deletions. Two unrelated patients were found to have the same rare missense variant in KDM4A. In conclusion, exome sequencing analysis had a diagnostic yield of 29.7% in a cohort of patients with syndromic tall stature and we identified four novel candidate genes that are involved in overgrowth conditions.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268985/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144511698","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nonlinear association between weekend sleep recovery (WSR) and insulin resistance: benefits in males and short weekday sleepers.","authors":"Haidong Wang, Xiaohui Wei, Yudong Ba, Haiyan Liu, Yanhui Zhou, Weibo Wang, Lisheng Zheng","doi":"10.1530/EC-25-0191","DOIUrl":"10.1530/EC-25-0191","url":null,"abstract":"<p><strong>Background: </strong>Weekend sleep recovery (WSR), often referred to as 'weekend catch-up sleep' (WCS) in the prior literature, may represent a behavioral response to accumulated weekday sleep loss. However, its metabolic implications remain poorly understood. This study aimed to investigate the association between WSR duration and insulin resistance, measured by HOMA-IR, with particular focus on sex differences and weekday sleep duration stratification.</p><p><strong>Methods: </strong>We analyzed 4,036 adults (mean age: 49.62 years; 51.54% female) from NHANES 2017-2020. HOMA-IR was calculated as an indicator of insulin resistance. WSR duration was categorized as ≤0 h, 0-2 h, or >2 h. We used multivariable linear regression, stratified subgroup analyses (by sex, weekday sleep duration ≤7 vs >7 h, and different age groups), threshold effect modeling, and interaction analysis to assess associations.</p><p><strong>Results: </strong>Participants with WSR >0 h had significantly lower HOMA-IR levels compared to those with WSR ≤0 h (β = -1.16, 95% CI: -1.74 to -0.58, P = 0.0001), with the greatest benefit observed in the 0-2 h group (β = -1.14, 95% CI: -1.74 to -0.53, P = 0.0002). A nonlinear threshold effect was identified at 2 h of WSR, beyond which metabolic benefits plateaued. Stratified analyses revealed stronger effects in males (β = -0.68, 95% CI: -1.21 to -0.08, P = 0.0132) and in participants with weekday sleep ≤7 h (β = -0.39, 95% CI: -0.72 to -0.07, P = 0.0182). No significant associations were observed in females or in those with >7 h of weekday sleep.</p><p><strong>Conclusion: </strong>Moderate WSR (0-2 h) is associated with lower insulin resistance, particularly among males and individuals with weekday sleep restriction. These findings suggest that modest WSR may offer metabolic benefits in specific populations, though the effect appears to plateau beyond 2 h.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268986/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144539568","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictors of therapeutic failure in GH and prolactin co-secreting pituitary adenomas.","authors":"Marta Araujo-Castro, Betina Biagetti, Edelmiro Menéndez, Iría Novoa-Testa, Fernando Cordido, Víctor Rodríguez Berrocal, Eider Pascual-Corrales, Fernando Guerrero-Pérez, Almudena Vicente, Rogelio García-Centeno, Laura González, María Dolores Ollero García, Ana Irigaray Echarri, María Dolores Moure Rodríguez, Cristina Novo-Rodríguez, María Calatayud, Rocío Villar-Taibo, Ignacio Bernabéu, Cristina Alvarez-Escola, Carmen Tenorio Jimenéz, Pablo Abellán-Galiana, Eva Venegas, Inmaculada González-Molero, Pedro Iglesias, Concepción Blanco, Fernando Vidal-Ostos De Lara, María Paz de Miguel Novoa, Elena López-Mezquita Torres, Felicia Hanzu, Cristina Lamas, Silvia Aznar Rodríguez, Anna Aulinas, José María Recio, María Dolores Aviles-Pérez, Miguel Antonio Sampedro Núñez, Rosa Camara, Miguel Paja Fano, Carmen Fajardo, Luís Cardoso, Pedro Marques, Elena Martínez-Sáez, Ignacio Ruz-Caracuel, Mónica Marazuela, Manel Puig-Domingo","doi":"10.1530/EC-25-0103","DOIUrl":"10.1530/EC-25-0103","url":null,"abstract":"<p><strong>Aim: </strong>To evaluate which factors are associated with a higher probability of failure to surgical and first-generation somatostatin receptor ligands (fgSRLs) treatment in patients with growth hormone and prolactin co-secreting pituitary adenomas (GH&PRL-PAs).</p><p><strong>Methods: </strong>Acromegaly patients with GH&PRL-PAs included in the ACRO-SPAIN study were enrolled. GH&PRL-PAs were defined as tumors with serum PRL levels above the upper limit of normal and positive immunostaining for GH and PRL, or with PRL levels ≥100 ng/mL when immunostaining data were not available.</p><p><strong>Results: </strong>A total of 126 acromegaly patients with GH&PRL-PAs who underwent transsphenoidal pituitary surgery were included, and 42.1% (n = 53) were biochemically cured at the immediate postoperative evaluation. Knosp grade >2 (odds ratio (OR) 3.48, 95% CI 1.28-9.38), higher serum GH (OR 1.01, 95% CI 1.01-1.08) and IGF-1 (OR 1.60, 95% CI 1.05-2.45) levels were associated with a lower probability of surgical cure. Sixty-eight patients received first-line medical therapy as follows: fgSRLs in monotherapy (n = 22), fgSRL plus cabergoline (n = 37), cabergoline in monotherapy (n = 7) and pegvisomant in monotherapy (n = 2). Among the cases treated with fgSRL in monotherapy, 18.2% (n = 4/22) were resistant. We identified as predictors of fgSRL resistance (in monotherapy and combined with cabergoline) a Knosp grade >2 (OR 8.75, P = 0.003), high GH levels at acromegaly diagnosis (OR 1.02, P = 0.031) and higher postoperative GH levels (OR 1.05, P = 0.006), but no predictors of response to fgSRL in monotherapy were identified.</p><p><strong>Conclusion: </strong>The clinical predictors of surgical failure and of fgSRL resistance in patients with GH&PRL-PAs are similar to those described in acromegaly without PRL, co-secretion.</p><p><strong>Significance statement: </strong>In this article focused on GH&PRL pituitary adenomas, we found that a Knosp grade >2, and higher serum GH and IGF-1 levels were associated with a lower probability of surgical cure in these tumors. Regarding the response to fgSRL in monotherapy, 18% of the patients with GH&PRL pituitary adenomas were classified as resistant. Knosp grade >2 (OR 8.75, P = 0.003), high GH levels at acromegaly diagnosis (OR 1.02, P = 0.031), and higher postoperative GH levels (OR 1.05, P = 0.006) were predictors of non-response to fgSRL (monotherapy or combined with cabergoline), while no predictors of response to fgSRL in monotherapy were identified. Thus, we concluded the clinical predictors of surgical failure and of fgSRL resistance in patients with GH&PRL-PAs are similar to those described in acromegaly without PRL co-secretion.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268987/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144539569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The role of mitochondrial dysfunction in ovarian granulosa cells in polycystic ovary syndrome.","authors":"Xuejun Yan, Dan Ma, Rongnian Li, Jing Xu, Ying Zou, Minmin He","doi":"10.1530/EC-25-0186","DOIUrl":"10.1530/EC-25-0186","url":null,"abstract":"<p><p>Polycystic ovary syndrome (PCOS) is a prevalent endocrine disorder that significantly impacts women's reproductive capabilities and metabolic health, leading to a range of complications that can affect their quality of life. Recent studies have highlighted mitochondrial dysfunction as a crucial factor in the complex pathogenesis of PCOS, suggesting that the health of these cellular powerhouses plays a pivotal role in the condition. This review meticulously examines the effects of mitochondrial dysfunction specifically in ovarian granulosa cells, delving into the intricate mechanisms of action that contribute to the development and progression of PCOS, as well as identifying potential therapeutic targets that could be explored for effective treatment. By thoroughly analyzing the relevant literature and synthesizing findings from various studies, this paper aims to provide new insights into the multifaceted nature of PCOS research and promote advancements in clinical treatment strategies that could ultimately improve the health and well-being of women affected by this disorder.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268988/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144526919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypoparathyroidism induced by immune checkpoint inhibitors: a review of literature reports and real-world pharmacovigilance data.","authors":"Jiaxun Jiao, Zongyun Li, Xiaoli Zhu, Linwei Chen, Yuting Wu","doi":"10.1530/EC-25-0123","DOIUrl":"10.1530/EC-25-0123","url":null,"abstract":"<p><strong>Objective: </strong>This study aims to comprehensively assess the characteristics of immune checkpoint inhibitor (ICI)-induced hypoparathyroidism (HP) by analyzing published case reports and adverse event data from the U.S. Food and Drug Administration Adverse Event Reporting System (FAERS).</p><p><strong>Methods: </strong>We identified case reports of HP during ICI treatment through a systematic literature search and extracted clinical data. FAERS data (Q2 2011-Q3 2024) were analyzed for cases where ICIs were the primary suspected cause of HP. Disproportionality and Bayesian analyses were used to evaluate associations between ICI classes and HP.</p><p><strong>Results: </strong>Nine ICI-related HP cases were documented in the literature. Predominant manifestations included neuromuscular symptoms (e.g., weakness, paresthesia). Laboratory findings consistently revealed hypocalcemia and low parathyroid hormone (PTH) levels. Four cases exhibited prolonged QT intervals, and calcium-sensing receptor (CaSR) autoantibodies were detected in four patients. Pharmacovigilance analysis showed the strongest signal for CTLA-4/PD-1 inhibitor combination therapy (ROR (95% CI): 6.04 (2.26-16.13); PRR (χ 2): 6.04 (16.71); EBGM (EBGM05): 6.01 (2.64); IC (IC025): 2.59 (1.29)).</p><p><strong>Conclusion: </strong>ICI-induced HP is a rare endocrine toxicity requiring heightened clinical vigilance. Regular monitoring of serum calcium levels is essential, with PTH measurements recommended in the presence of hypocalcemia to facilitate early diagnosis and appropriate management.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12268984/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144539567","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hyperprolactinemia caused by extra-pituitary prolactin secretion: a systematic review.","authors":"Yixin Lu, Xiaoxue Chen, Xiaoan Ke, Lian Duan, Hongbo Yang, Hui Pan, Fengying Gong, Linjie Wang, Huijuan Zhu","doi":"10.1530/EC-25-0054","DOIUrl":"10.1530/EC-25-0054","url":null,"abstract":"<p><p>This study aims to summarize the clinical and pathological characteristics, as well as the treatment and therapeutic outcomes, of hyperprolactinemia caused by ectopic prolactin secretion. Case reports of patients with hyperprolactinemia caused by extra-pituitary prolactin secretion were collected by conducting searches in three databases using the terms (ectopic prolactin secretion) OR (ectopic hyperprolactinemia) OR (ectopic prolactinoma). Fifty-two cases were included (age: 45.5 years (34-55.25), baseline serum prolactin level: 218 ng/mL (110.3-680.5)). Extra-pituitary prolactin-secreting sites include ectopic pituitary adenomas (age: 55 years (47-65), baseline prolactin level: 382 ng/mL (200-1,598)) and non-pituitary-derived extracranial lesions (age: 38 years (30-45.5), baseline prolactin level: 148 ng/mL (75.25-246)). The most common symptoms of the two types of patients are, respectively, intracranial mass effect and galactorrhea or amenorrhea. 42.3% of cases received dopamine agonists as initial treatment, and among them, all patients with non-pituitary-derived lesions failed to achieve normalization in prolactin levels by receiving medication alone. 38.5% of cases received surgery as initial treatment, and 70% achieved an immediate decrease in prolactin level. In conclusion, hyperprolactinemia caused by ectopic prolactin secretion is rare, but it should still be considered in patients with hyperprolactinemia of unclear cause. Age, baseline prolactin levels, major symptoms, histology, pathology, and therapeutic outcomes varied between patients with prolactin-secreting ectopic pituitary adenomas and non-pituitary-derived lesions. Hyperprolactinemia caused by the latter had a female predominance. Dopamine agonists were effective for most ectopic pituitary adenomas, while patients with non-pituitary-derived lesions tended to resist dopamine agonists and responded well to surgery.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12229282/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144324803","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Role of KNDy neurons in puberty onset in male offspring following prenatal androgen exposure.","authors":"Runfei Ge, Yun Zhang, Yongting Yuan, Tingting Li, Guiyu Qiu, Shuaijun Guo, Lianguo Fu","doi":"10.1530/EC-25-0209","DOIUrl":"10.1530/EC-25-0209","url":null,"abstract":"<p><strong>Objective: </strong>Emerging evidence links prenatal androgen excess to altered pubertal timing, yet the neuroendocrine mechanisms mediating this effect in male offspring remain poorly characterized. This study aimed to investigate the effects of prenatal androgen exposure on the timing of puberty onset in male offspring and the role of KNDy neurons in this process.</p><p><strong>Methods: </strong>Eight-week-old pregnant Sprague-Dawley rats (n=16) were randomized into control (olive oil) and prenatal androgen (PNA, testosterone injection) groups (n=8 per group). Hypothalamic samples of 6 male offspring rats at postnatal day (PND) 21 (n=3 per group) were collected for transcriptome analysis. The time of puberty onset was recorded in 36 male offspring (n=18 per group). Serum samples and hypothalamic tissue from 12 male offspring rats (n=6 per group) were collected and GnRH, LH, FSH, and Kisspeptin 1 protein levels were measured by ELISA. mRNA levels of Kiss1, Tac3, and Pdyn were measured by real-time qPCR. In the brains of 6 male offspring rats (n=3 per group), protein levels of Kisspeptin, Neurokinin B (NKB), and Dynorphin (Dyn) in the arcuate nucleus (ARC) were measured using immunohistochemistry.</p><p><strong>Results: </strong>Compared to controls, PNA male offspring rats showed significantly earlier puberty onset (P < 0.001). At PND21, Tac3 (P < 0.01) and Pdyn (P < 0.05) expression levels increased significantly in PNA male offspring rats. At puberty, ARC Kisspeptin protein levels increased (P < 0.01), while Dynorphin protein levels decreased (P < 0.01) in PNA male offspring rats.</p><p><strong>Conclusion: </strong>Prenatal androgen exposure accelerates puberty onset of male offspring rats, likely by activating Tac3 expression in early life and reducing ARC Dynorphin inhibition of Kisspeptin neurons at puberty.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12278364/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144539571","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical, molecular and radiological characteristics of thyroid nodules with somatic DICER1 mutations in adults.","authors":"Ying Han, Shiyan Li, Bowen Zhao, Jianghong Lv, Li Gao","doi":"10.1530/EC-25-0125","DOIUrl":"10.1530/EC-25-0125","url":null,"abstract":"<p><strong>Background: </strong>Information regarding DICER1-related thyroid tumors in children has accumulated; however, the clinical, molecular and radiological characteristics of thyroid nodules with DICER1 mutations in adults are largely unknown, especially those with somatic mutations.</p><p><strong>Objective: </strong>In this study, we sought to find clinical, molecular and radiological characteristics of thyroid diseases with somatic mutations in the DICER1 gene in adults.</p><p><strong>Patients: </strong>Patients (n = 21) aged ≥18 years with somatic DICER1-related thyroid tumors were enrolled.</p><p><strong>Design: </strong>From 1,289 patients who underwent genotyping for PTC-associated variants, 21 patients with 23 DICER1-related thyroid tumors and confirmed somatic DICER1 variants were selected and analyzed for clinical, molecular and radiographic features.</p><p><strong>Results: </strong>Somatic DICER1 variants were found in 21 of 1,289 (1.63%) patients with thyroid nodules in this study. All patients were female predominant. Eleven (11/23) were classified as benign and eight (8/23) were malignant, one was a follicular tumor of uncertain malignant potential (FT-UMP) with suspicious capsular invasion and three were under follow-up, in 23 DICER1-related nodules. Eleven nodules (11/23) had other pathogenic gene mutations (RAS and BRAF), and biallelic DICER1 mutations had a high prevalence, about 34.8% (8/23). Ten nodules (10/20) were combined with other tumors with non-DICER1 mutations. No patients had any local invasion or distant metastasis during follow-up. All DICER1-related nodules lacked unique sonographic features, but had the typical appearance of benign or malignant nodules on ultrasound (US).</p><p><strong>Conclusion: </strong>Somatic DICER1-mutated thyroid nodules in adults usually represent a distinct class of low-risk neoplasms, although they may be accompanied by variants in other thyroid cancer-related genes.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12217457/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144324802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intratumoural aldosterone and CYP11B2 expression levels among different genotypes of aldosterone producing tumours.","authors":"Tobias Åkerström, Branislav Klimàcek, Matilda Annebäck, Olov Norlén, Peter Stålberg","doi":"10.1530/EC-25-0070","DOIUrl":"10.1530/EC-25-0070","url":null,"abstract":"<p><p>Primary aldosteronism is the most common endocrine cause of hypertension, affecting 5-10% of hypertensive patients. Determining the source of aldosteronism is necessary for correct diagnosis and further molecular analysis. To investigate the relationship between aldosterone synthase (CYP11B2) expression and aldosterone synthesis, we analysed tissue aldosterone and CYP11B2 expression in different genotypes of unilateral PA disease (uPA). Forty-eight tumour samples from patients with confirmed uPA were included. Intratumoural aldosterone was detectable in most uPA cases and correlated with CYP11B2 protein expression (r 2 = 0.48, P < 0.0001). Aldosterone concentrations were significantly higher in tumours with ATP1A1, ATP2B3 and CACNA1D mutations compared to those with KCNJ5 mutations (P = 0.0001). Using CYP11B2 expression and tissue aldosterone, five tumours were reclassified as non-functional nodules. Furthermore, a second active nodule responsible for the aldosteronism, also carrying a driver mutation, was identified in these patients. These findings show that CYP11B2 expression relates to cell concentrations of aldosterone and may be used to clarify the source of aldosterone secretion. Furthermore, the results corroborate genotype differences between uPA patients.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12203776/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144324804","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}