Endocrine最新文献

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Functional study of two siblings with isolated growth hormone deficiency and pituitary MR imaging abnormalities caused by a novel HESX1 variant. 一种新的HESX1变异引起的分离性生长激素缺乏和垂体MR成像异常的两个兄弟姐妹的功能研究。
IF 3.7 3区 医学
Endocrine Pub Date : 2025-08-01 Epub Date: 2025-05-18 DOI: 10.1007/s12020-025-04262-3
NokI Lei, Yun Yang, Yanlin Liu, Ronggui Hu, Chuanyin Li, Wenli Lu
{"title":"Functional study of two siblings with isolated growth hormone deficiency and pituitary MR imaging abnormalities caused by a novel HESX1 variant.","authors":"NokI Lei, Yun Yang, Yanlin Liu, Ronggui Hu, Chuanyin Li, Wenli Lu","doi":"10.1007/s12020-025-04262-3","DOIUrl":"10.1007/s12020-025-04262-3","url":null,"abstract":"<p><strong>Purpose: </strong>Our study identifies a novel HESX1 variant in two siblings, resulting in isolated growth hormone deficiency (IGHD) associated with empty sella. To the best of our knowledge, this represents the second recognized mutation within the EH1 repressor domain in HESX1. We explore and interpret the potential mechanism, with the aim of guiding pediatricians comprehend this disorder.</p><p><strong>Methods: </strong>The clinical data for two Chinese siblings was summarized. Furthermore, multiple sequence alignment and pathogenicity prediction of functional effects through five online algorithms were performed. Additionally, AlphaFold 3 was introduced to predict the three-dimensional protein structure of wild-type HESX1 and its variant. Immunoblotting analysis was also employed to examine changes in protein levels, and a luciferase reporter assay was conducted to further investigate the effects of HESX1 and its variant on PROP1 transcriptional activity.</p><p><strong>Results: </strong>This report details two siblings with IGHD and empty sella, caused by a novel Ile23Thr (c.T68C) HESX1 missense mutation in exon 1. This variant was predicted to be disease-causing and to enhance the stability and local contact with E24, as indicated by the 3D prediction model. In the presence of PROP1, the mutant HESX1 exhibited a marked reduction in the suppression of PROP1-mediated activity relative to the wild-type HESX1.</p><p><strong>Conclusions: </strong>The HESX1 (Ile23Thr) mutation is a partial loss-of-function mutation that attenuates the inhibition of PROP1-mediated activation. This suggests that the mutant can lead to GH deficiency and brain malformation.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"521-531"},"PeriodicalIF":3.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093180","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Spatial and temporal distribution and evolutionary trend of thyroid cancer incidence in Guangzhou, 2010-2020. 2010-2020年广州市甲状腺癌发病时空分布及演变趋势
IF 3.7 3区 医学
Endocrine Pub Date : 2025-08-01 Epub Date: 2025-05-19 DOI: 10.1007/s12020-025-04274-z
Boheng Liang, Jingjing Zhou, Suixiang Wang, Huan Xu, Ke Li, Huiting Liang, Zeyu Sun, Yanhong Liu, Yawen Wang, Jiaqi Zhang, Pengzhe Qin, Xiaoqin Hu
{"title":"Spatial and temporal distribution and evolutionary trend of thyroid cancer incidence in Guangzhou, 2010-2020.","authors":"Boheng Liang, Jingjing Zhou, Suixiang Wang, Huan Xu, Ke Li, Huiting Liang, Zeyu Sun, Yanhong Liu, Yawen Wang, Jiaqi Zhang, Pengzhe Qin, Xiaoqin Hu","doi":"10.1007/s12020-025-04274-z","DOIUrl":"10.1007/s12020-025-04274-z","url":null,"abstract":"<p><strong>Purpose: </strong>The spatial and temporal distribution of thyroid cancer in Guangzhou was studied using spatial information system technology, offering a scientific foundation for successful thyroid cancer prevention and treatment.</p><p><strong>Methods: </strong>The Joinpoint model was used to assess the incidence rate of thyroid cancer over time in various regions. Hierarchical maps were created with the ArcGIS software to investigate the spatial distribution features of the incidence rate. Spatial autocorrelation and spatiotemporal scanning analysis methods were used to assess geographical clustering. Standard deviation ellipse analysis was used to analyze the spatial and temporal trends of incidence.</p><p><strong>Results: </strong>The age-standardized incidence rate (ASIR) increased from 6.46/10<sup>5</sup> in 2010 to 33.15/10<sup>5</sup> in 2020, showing a nearly five-fold increase. The ASIR of urban regions was highest, but the growth rates of suburban regions and rural regions were faster than that of urban regions, and the regional disparity was gradually narrowing. The spatial distribution of thyroid cancer incidence has significant spatial heterogeneity and clustering. The hotspots clustered in the urban regions, Panyu and Nansha districts in the south, Huadu district in the north, and Zengcheng district in the east. The spatiotemporal evolution trends showed that since 2010, the incidence rate first migrated to the south-west, and then migrated to the north-east from 2015.</p><p><strong>Conclusions: </strong>Significant heterogeneity and clustering were seen in the spatial distribution of the thyroid cancer incidence rate in Guangzhou, and the regional disparity decreased. The direction of evolution consistent with Guangzhou's \"Southern Expansion, Northern Enhancement, Eastern Advancement, Western Integration and Central Revitalization\" spatial development policy.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"484-496"},"PeriodicalIF":3.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144101612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
CXCR4-directed PET with 68Ga-pentixafor versus adrenal vein sampling for the diagnosis of unilateral primary aldosteronism. cxcr4定向PET与68ga - pentxafor对照肾上腺静脉取样诊断单侧原发性醛固酮增多症
IF 2.9 3区 医学
Endocrine Pub Date : 2025-08-01 Epub Date: 2025-05-19 DOI: 10.1007/s12020-025-04236-5
Lu Tan, Tao Chen, Wenjie Zhang, Sikui Shen, Haoming Tian, Yuchun Zhu, Rong Tian, Yan Ren
{"title":"CXCR4-directed PET with <sup>68</sup>Ga-pentixafor versus adrenal vein sampling for the diagnosis of unilateral primary aldosteronism.","authors":"Lu Tan, Tao Chen, Wenjie Zhang, Sikui Shen, Haoming Tian, Yuchun Zhu, Rong Tian, Yan Ren","doi":"10.1007/s12020-025-04236-5","DOIUrl":"10.1007/s12020-025-04236-5","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;To explore the accuracy of unilateral primary aldosteronism (UPA) classification via adrenal vein sampling (AVS) and C-X-C chemoking receptor 4 (CXCR4)-directed positron emission tomography (PET) with &lt;sup&gt;68&lt;/sup&gt;Ga-pentixafor (CXCR4-directed molecular imaging).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;A retrospective cohort study was conducted with 89 patients who were diagnosed with UPA and who underwent unilateral adrenalectomy (ADX) at West China Hospital of Sichuan University from January 2021 to June 2023. For these patients, surgical decisions were made on the basis of either AVS (AVS group) or CXCR4-directed molecular imaging (CXCR4 group), and patients were regularly followed up for more than 6 months after surgery. Whether biochemical and clinical success was achieved 6 months after surgery was determined on the basis of the primary aldosteronism surgical outcomes (PASO) criterion. The complete success rates were compared between the AVS group and CXCR4 group. One-way analysis of variance was used to compare preoperative factors, postoperative biochemical success rates and clinical success rates between the two groups. Additionally, the postoperative outcomes of adrenal nodules of different sizes were compared.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;1. Among the 89 patients with UPA, 66 patients received ADX on the basis of AVS results, and 23 patients on the basis of CXCR4-directed molecular imaging results. The median age of the CXCR4 group [M (P25, P75): 45.00 years (39.00, 51.00)] was significantly lower than that of the AVS group [M (P25, P75): 49.00 years (40.75, 54.00)]. No significant differences in sex, history of hypertension, maximum blood pressure, antihypertensive drug defined daily dose (DDD), plasma aldosterone concentration (PAC), direct renin concentration (DRC), aldosterone-to-renin ratio (ARR), PAC after the captopril challenge test (CCT), PAC after the seated saline infusion test (SSIT), urea nitrogen, estimated glomerular filtration rate (eGFR), serum potassium level, diameter of the adrenal nodules or bilateral adrenal involvement were found. 2. There was no significant difference in the postoperative biochemical complete succcess rate (80.30 vs. 91.30%) or clinical cpmplete success rate (59.05 vs.65.21%) between the AVS group and the CXCR4 group. There were no significant differences in nitrogen, eGFR, serum potassium level, PAC, DRC, ARR, mean postoperative blood pressure or antihypertensive drug DDD after 6 months of follow-up. 3. For the identification of UPA patients with functional adrenal nodules ≥1 cm, CXCR4-directed molecular imaging have comparable diagnostic accuracies. 4. Three patients with adrenal micronodules achieved complete biochemical complete success after successful typing via CXCR4-directed molecular imaging, and unilateral aldosteronogenic micronodules were confirmed by immunohistochemistry (IHC) of CYP11B2 after surgery.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;CXCR4-directed molec","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"603-613"},"PeriodicalIF":2.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12289708/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093178","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}
引用次数: 0
Association of peripheral neuropathy with dementia in type 2 diabetes: a 5-year follow-up study using the national health insurance service-national health information database. 2型糖尿病患者周围神经病变与痴呆的关系:使用国家健康保险服务-国家健康信息数据库的5年随访研究
IF 3.7 3区 医学
Endocrine Pub Date : 2025-08-01 Epub Date: 2025-05-23 DOI: 10.1007/s12020-025-04227-6
Heung Yong Jin, Ko Woon Kim, Kyung Ae Lee, Tae Sun Park, Min Ji Kim, Jong Seung Kim
{"title":"Association of peripheral neuropathy with dementia in type 2 diabetes: a 5-year follow-up study using the national health insurance service-national health information database.","authors":"Heung Yong Jin, Ko Woon Kim, Kyung Ae Lee, Tae Sun Park, Min Ji Kim, Jong Seung Kim","doi":"10.1007/s12020-025-04227-6","DOIUrl":"10.1007/s12020-025-04227-6","url":null,"abstract":"<p><strong>Objective: </strong>To investigate whether the incidence of dementia is associated with diabetic peripheral neuropathy (DPN) in type 2 diabetes.</p><p><strong>Methods: </strong>Using the National Health Insurance Service-National Health Information Database, we calculated the incidence of various types of dementia according to type 2 diabetes with or without DPN by applying multivariate Cox regression analysis. Propensity score matching was performed to equalize each group by considering demographic characteristics and underlying conditions.</p><p><strong>Results: </strong>The incidence of various types of dementia was higher in patients with type 2 diabetes than in those without diabetes. The risk of developing dementia was higher in type 2 diabetes with DPN than in type 2 diabetes without DPN, irrespective of dementia type (all dementia: 1.53 vs. 2.1 vs. 1.4, P < 0.05, Alzheimer's disease: 1.46 vs. 1.98 vs. 1.34, P < 0.05, vascular dementia: 1.86 vs. 2.75 vs. 1.66, P < 0.05, other dementia: 1.62 vs. 2.19 vs. 1.48, P < 0.05; all type 2 diabetes vs. type 2 diabetes with DPN vs. type 2 diabetes without DPN compared with non-diabetes). When sodium-glucose cotransporter-2 inhibitors (SGLT2Is) were used, the incidence of all dementia types was lower in patients with type 2 diabetes than in patients with type 2 diabetes who did not use SGLT2Is although the incidence showed more decreased trend when dipeptidyl peptidase IV inhibitor (DPPIVI) was combined (all dementia: 0.51-0.71, P < 0.05, Alzheimer's disease: 0.78-0.80, P < 0.05, vascular dementia: 0.28-0.35, P < 0.05, other dementia: 0.2-0.70, P < 0.05; SGLT2Is user vs. neither SGLT2I nor DPPIVI). This pattern was also observed in patients with type 2 diabetes and DPN (all dementia: 0.32-0.56, P < 0.05, Alzheimer's disease: 0.44-0.55, P < 0.05, vascular dementia: 0.33, P < 0.05, other dementia: 0.53, P < 0.05; SGLT2Is user vs. neither SGLT2I nor DPPIVI).</p><p><strong>Conclusions: </strong>More active diagnostic and prevention efforts are needed to address the risk of developing all forms of dementia, including vascular dementia, in patients with diabetes and DPN.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"456-465"},"PeriodicalIF":3.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144127018","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Antithyroid drugs and the dose-risk balance: a meta-analysis on agranulocytosis in hyperthyroidism. 抗甲状腺药物和剂量-风险平衡:甲亢患者粒细胞缺乏症的荟萃分析。
IF 2.9 3区 医学
Endocrine Pub Date : 2025-08-01 DOI: 10.1007/s12020-025-04372-y
Luis Agustín Ramírez Stieben, Lucas Ricardo Brun, Paula Nasazzi Doddi, María Lorena Brance
{"title":"Antithyroid drugs and the dose-risk balance: a meta-analysis on agranulocytosis in hyperthyroidism.","authors":"Luis Agustín Ramírez Stieben, Lucas Ricardo Brun, Paula Nasazzi Doddi, María Lorena Brance","doi":"10.1007/s12020-025-04372-y","DOIUrl":"https://doi.org/10.1007/s12020-025-04372-y","url":null,"abstract":"<p><strong>Purpose: </strong>Agranulocytosis is a rare but serious adverse effect associated with antithyroid drug (ATD) therapy for hyperthyroidism. The relative risk between methimazole (MMI) and propylthiouracil (PTU), and the potential dose-dependent effect of MMI remain unclear. To evaluate the incidence and relative risk of agranulocytosis associated with MMI and PTU, and to determine whether higher MMI doses are linked to increased risk.</p><p><strong>Methods: </strong>We conducted a systematic review and meta-analysis of clinical studies reporting agranulocytosis in patients treated with MMI or PTU. A comprehensive search was performed in MEDLINE, Cochrane Library, and LILACS up to March 2025. Studies were selected based on predefined inclusion criteria. Risk of bias was assessed using RoB 2.0 and ROBINS-I tools. Meta-analyses were performed using random-effects models. Publication bias was evaluated using funnel plots, Egger's test, and the trim-and-fill method. The protocol was registered in PROSPERO (CRD42024548791).</p><p><strong>Results: </strong>Thirteen studies were included in the meta-analysis, comprising 313 cases of agranulocytosis. No significant difference in risk was found between MMI and PTU (OR = 0.87; 95% CI: 0.40-1.88; I<sup>2</sup> = 74.1%). In the dose-comparison analysis, patients receiving <30 mg/day of MMI had a significantly lower risk of agranulocytosis compared to those receiving ≥30 mg/day (OR = 0.34; 95% CI: 0.22-0.54; I<sup>2</sup> = 0%). No publication bias was detected. Sixteen additional studies were included in the qualitative synthesis but excluded from quantitative analysis due to methodological limitations. A lower incidence of agranulocytosis was observed in randomized controlled trials compared to retrospective studies.</p><p><strong>Conclusion: </strong>This meta-analysis found no significant difference in agranulocytosis risk between MMI and PTU. However, higher MMI doses (≥30 mg/day) were associated with an increased risk. These findings support the use of the lowest effective MMI dose and emphasize the importance of standardized reporting and methodological rigor in studies assessing the safety of ATD.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144759378","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
The role of anti-Müllerian hormone: insights into ovarian reserve, primary ovarian insufficiency, and menopause prediction. 抗<s:1>勒氏激素的作用:对卵巢储备、原发性卵巢功能不全和更年期预测的见解。
IF 2.9 3区 医学
Endocrine Pub Date : 2025-08-01 Epub Date: 2025-05-23 DOI: 10.1007/s12020-025-04265-0
Eleftheria Karaviti, Dimitra Karaviti, Eleni-Rafaela Kani, Efstathia Chatziandreou, Stavroula A Paschou, Theodora Psaltopoulou, Sophia Kalantaridou, Irene Lambrinoudaki
{"title":"The role of anti-Müllerian hormone: insights into ovarian reserve, primary ovarian insufficiency, and menopause prediction.","authors":"Eleftheria Karaviti, Dimitra Karaviti, Eleni-Rafaela Kani, Efstathia Chatziandreou, Stavroula A Paschou, Theodora Psaltopoulou, Sophia Kalantaridou, Irene Lambrinoudaki","doi":"10.1007/s12020-025-04265-0","DOIUrl":"10.1007/s12020-025-04265-0","url":null,"abstract":"<p><p>This review highlights the role of Anti-Müllerian Hormone (AMH) in ovarian insufficiency and as a predictor of menopause. AMH, produced by granulosa cells in growing follicles, is a key marker of ovarian reserve, reflecting the remaining pool of viable follicles. In cases of primary ovarian insufficiency (POI), AMH levels are significantly reduced, aiding in diagnosis and distinguishing POI from other causes of amenorrhea. AMH levels below 8 pmol/L have shown high sensitivity (85%) and specificity (100%) for diagnosing POI in women with secondary oligomenorrhea. Regarding ovarian aging, AMH declines steadily with age, serving as a reliable predictor of menopausal timing. AMH levels are linked to menopausal symptoms, particularly vasomotor symptoms like hot flashes and their severity. However, its reliability for diagnosing menopause is inconsistent, especially in younger populations or when determining the exact onset. AMH levels can predict an earlier onset of menopause with limited sensitivity and specificity, particularly when using age-specific concentrations, as lower age-specific AMH levels are associated with an earlier menopause onset. Tracking AMH over time can improve the prediction of menopause. The accuracy of AMH measurements can be enhanced when considered alongside other hormonal markers or clinical symptoms. In polycystic ovary syndrome (PCOS), elevated AMH levels suggest a delayed onset of menopause, indicating an approximately two-year longer reproductive lifespan compared to women without PCOS (mean menopause age: 51.4 years in PCOS cases vs. 49.7 years in healthy controls). In endometriosis, AMH levels generally decline after surgery; however, they remain stable after chemotherapy, even years later, indicating that the decline in ovarian reserve may not be significantly affected.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"338-355"},"PeriodicalIF":2.9,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12289849/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144132195","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}
引用次数: 0
The prognostic value of serum Mg2+ concentration in patients with heart failure and type 2 diabetes mellitus: a retrospective cohort study. 血清Mg2+浓度对心力衰竭合并2型糖尿病患者的预后价值:一项回顾性队列研究
IF 3.7 3区 医学
Endocrine Pub Date : 2025-08-01 Epub Date: 2025-05-21 DOI: 10.1007/s12020-025-04282-z
Yangyang Jiang, Jingshu Zhang, Zhichao Jiang, Xiaoyu Liu, Lixin Wang
{"title":"The prognostic value of serum Mg<sup>2+</sup> concentration in patients with heart failure and type 2 diabetes mellitus: a retrospective cohort study.","authors":"Yangyang Jiang, Jingshu Zhang, Zhichao Jiang, Xiaoyu Liu, Lixin Wang","doi":"10.1007/s12020-025-04282-z","DOIUrl":"10.1007/s12020-025-04282-z","url":null,"abstract":"<p><strong>Background: </strong>Epidemiological studies have discovered an inverse correlation between serum Mg<sup>2+</sup> concentration and the risk of developing heart failure (HF) as well as atrial fibrillation (AF) in patients with type 2 diabetes mellitus (T2DM). The prognostic relevance of serum Mg<sup>2+</sup> concentration in patients with HF and T2DM remains unclear.</p><p><strong>Objectives: </strong>To assess the association of serum Mg<sup>2+</sup> concentration with cardiovascular event rates in a retrospective cohort of patients with HF and T2DM.</p><p><strong>Methods: </strong>This study included patients diagnosed with HF and T2DM in First Teaching Hospital of Tianjin University of Traditional Chinese Medicine, Tianjin, from July 2018 to December 2021. The primary endpoint was cardiovascular death or rehospitalization for HF.</p><p><strong>Results: </strong>This study included 216 patients with HF and T2DM. Patients were divided into three groups (T1 [serum Mg<sup>2+</sup> level ≤ 0.8 mmol/L], T2 [0.8 < serum Mg<sup>2+</sup> level ≤ 0.89 mmol/L], T3 [serum Mg<sup>2+</sup> level ≥ 0.9 mmol/L]) based on serum Mg<sup>2+</sup> level. The Kaplan-Meier analysis revealed that the incidence rate of primary endpoint was significantly increased among three groups (P < 0.001). In multivariate Cox regression model, elevated serum Mg<sup>2+</sup> level was considered as a protective factor in the coexistence of T2DM and HF with poor prognosis.</p><p><strong>Conclusions: </strong>Our results indicated that increased serum Mg<sup>2+</sup> concentration may improve long-term prognosis of patients with HF and T2DM.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"439-447"},"PeriodicalIF":3.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110051","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
Comprehensive clinical and molecular characterization with long-term outcomes in 40 patients with congenital hyperinsulinism. 40例先天性高胰岛素血症患者的综合临床和分子特征及其长期预后。
IF 3.7 3区 医学
Endocrine Pub Date : 2025-08-01 Epub Date: 2025-05-18 DOI: 10.1007/s12020-025-04244-5
Zehra Yavas Abali, Firdevs Bas, Jayne A L Houghton, Saygin Abali, Esin Karakilic Ozturan, Cagrı Gulec, Ayca Dilruba Aslanger, Tugce Kandemir, Durmus Durmaz, Mehmet Akif Yucesoy, Sarah E Flanagan, Sukran Poyrazoglu, Ruveyde Bundak, Feyza Darendeliler
{"title":"Comprehensive clinical and molecular characterization with long-term outcomes in 40 patients with congenital hyperinsulinism.","authors":"Zehra Yavas Abali, Firdevs Bas, Jayne A L Houghton, Saygin Abali, Esin Karakilic Ozturan, Cagrı Gulec, Ayca Dilruba Aslanger, Tugce Kandemir, Durmus Durmaz, Mehmet Akif Yucesoy, Sarah E Flanagan, Sukran Poyrazoglu, Ruveyde Bundak, Feyza Darendeliler","doi":"10.1007/s12020-025-04244-5","DOIUrl":"10.1007/s12020-025-04244-5","url":null,"abstract":"<p><strong>Purpose: </strong>Congenital hyperinsulinism (CHI) represents the most frequent cause of recurrent hypoglycemia in neonates and infants, stemming from defects in the regulatory pathways of insulin secretion from pancreatic beta cells. This study aims to assess the clinical and genetic characteristics of a CHI cohort and to discuss the complexities involved in managing this heterogeneous disorder.</p><p><strong>Methods: </strong>Forty patients (23 girls) with CHI were included in the study. Data on the diagnosis and treatment of CHI were obtained from the medical records.</p><p><strong>Results: </strong>The median age at diagnosis was 1.4 months (range 0.1-30 months). The mean gestational age was 37.8 ± 2.4 weeks, and the birth weight was 1.1 ± 2.0 SDS. The consanguinity ratio was 35.0%. Median glucose, insulin, and C-peptide concentrations at diagnosis were 34.0 mg/dl (IQR 25.2-41.7), 12.4µU/ml (IQR 4.4-27.1), and 1.5 ng/ml (IQR 0.7-3.8), respectively. Molecular genetic diagnosis could be established in 62.5% (n = 25). Pathogenic variants were predominantly identified in the KATP channel genes (17/25, 68%), with the ABCC8 being the most frequent (n = 15; biallelic: 8, monoallelic: 7). KCNJ11 variants were identified in two (5.0%), GLUD1 variants in three (7.5%), and HADH variants in five patients (12.5%). Pancreatectomy was performed in 10 patients, with a mean age at the time of surgery of 3.9 ± 3.2 months. The genetic etiology was identified in all patients who underwent pancreatectomy, all of whom had defects in the KATP channel. ABCC8 variants were detected in nine (biallelic: 5, monoallelic: 4), while a biallelic variant in the KCNJ11 was identified in one case.</p><p><strong>Conclusion: </strong>A molecular genetic diagnosis was identified in approximately two-thirds of our cohort, underscoring the significance of genetic testing in the management of CHI. Ongoing advances in genetic technologies are anticipated to enhance our understanding of the etiopathogenesis of CHI and support the development of more personalized therapeutic strategies. Although the genotype-phenotype correlation remains only partially elucidated, specific genetic variants may provide predictive insights into treatment resistance, thereby informing more targeted treatment approaches.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"416-428"},"PeriodicalIF":3.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093176","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
The association between serum uric acid to high density lipoprotein ratio and cardiometabolic-related risk in adults with obesity. 成人肥胖患者血清尿酸与高密度脂蛋白比值与心脏代谢相关风险的关系
IF 3.7 3区 医学
Endocrine Pub Date : 2025-08-01 Epub Date: 2025-05-21 DOI: 10.1007/s12020-025-04258-z
Luisella Vigna, Patrizia Landi, Melania Gaggini, Filomena Napolitano, Francesca Gori, Alessandra Piontini, Fabrizio Minichilli, Cristina Vassalle
{"title":"The association between serum uric acid to high density lipoprotein ratio and cardiometabolic-related risk in adults with obesity.","authors":"Luisella Vigna, Patrizia Landi, Melania Gaggini, Filomena Napolitano, Francesca Gori, Alessandra Piontini, Fabrizio Minichilli, Cristina Vassalle","doi":"10.1007/s12020-025-04258-z","DOIUrl":"10.1007/s12020-025-04258-z","url":null,"abstract":"<p><strong>Introduction: </strong>The uric acid (UA) to high density lipoproteins (HDL) ratio (UHR) has recently emerged as a new effective biomarker for inflammation and cardiometabolic diseases. However, the relationship between UHR and the metabolic syndrome and its components and other cardiometabolic parameters in individuals with obesity remains to be further investigated.</p><p><strong>Aim: </strong>To evaluate UHR levels in participants with obesity, as well correlation of UHR with other cardiometabolic risk factors. Moreover, the predictive value of UHR for insulin resistance, metabolic syndrome and visceral adiposity (estimated by using waist circumference) was evaluated, also with respect to UHR components (UA and HDL alone).</p><p><strong>Methods: </strong>Participants were enrolled from the Center of Obesity and Work, Occupational Health Unit of Clinica del Lavoro \"L. Devoto\", Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Milan (Italy) and divided into two groups according to body mass index (BMI) values; controls (when BMI < 30 kg/m<sup>2</sup>) and participants with obesity (when BMI ≥ 30 kg/m<sup>2</sup>).</p><p><strong>Results: </strong>A total of 1743 (1268 females, mean age 52 ± 14 years) was enrolled in the study. Multiple logistic regression analysis indicated a significant association between obesity and UHR (odds ratio (95% confidence intervals) p value; 1.1 (1-1.1) < 0.01) after adjustment for different biomarkers of cardiometabolic risk. The area under the ROC curve (AUC) of UHR was significantly larger compared with the use of HDL or UA alone for insulin resistance (0.73, 0.3 and 0.67, respectively), metabolic syndrome (0.77, 0.26 and 0.69, respectively) and waist circumference (0.65, 0.37 and 0.62, respectively).</p><p><strong>Conclusion: </strong>Elevated UHR, better than UA or HDL alone, demonstrates a significant correlation with obesity and cardiometabolic parameters, so it could be used as a potential indicator of cardiometabolic risk in this clinical setting.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"429-438"},"PeriodicalIF":3.7,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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
One-step versus two-step screening for gestational diabetes mellitus in Chinese pregnant women: a large non-randomized trial. 中国孕妇妊娠期糖尿病的一步与两步筛查:一项大型非随机试验
IF 2.9 3区 医学
Endocrine Pub Date : 2025-07-31 DOI: 10.1007/s12020-025-04366-w
Jiyuan Liu, Jiani Zhang, Xiaoxue Qi, Shuo Li, Chihui Mao, Xiong-Fei Pan, Xiaodong Wang
{"title":"One-step versus two-step screening for gestational diabetes mellitus in Chinese pregnant women: a large non-randomized trial.","authors":"Jiyuan Liu, Jiani Zhang, Xiaoxue Qi, Shuo Li, Chihui Mao, Xiong-Fei Pan, Xiaodong Wang","doi":"10.1007/s12020-025-04366-w","DOIUrl":"https://doi.org/10.1007/s12020-025-04366-w","url":null,"abstract":"<p><strong>Aims: </strong>To compare the effect on maternal and neonatal outcomes of 75-g oral glucose tolerance test (75-g OGTT) versus 50-g glucose challenge test (GCT) plus 75-g OGTT for diagnosis of gestational diabetes mellitus (GDM).</p><p><strong>Materials and methods: </strong>A non-randomized trial was conducted in a tertiary hospital between January and December 2020. Participants were assigned into the one-step (i.e., 75-g OGTT) and two-step screening (50-g GCT plus 75-g OGTT) groups. Primary outcomes were GDM, hypertensive disorder in pregnancy (HDP), macrosomia, and Cesarean section.</p><p><strong>Results: </strong>2265 eligible participants were enrolled in the trial, including 1130 in the one-step group and 1135 in the two-step group. GDM was diagnosed in 197 (17.4%) participants in the one-step group and 123 (10.8%) in the two-step group (OR, 1.94; 95% CI, 1.49, 2.54). There was only borderline statistical significance in the difference of HDP between two groups (OR, 0.64; 95% CI, 0.40, 1.01), while all other outcomes showed no statistically significant differences. In pregnant women with high risk factors for GDM (maternal age ≥ 35 years, pre-pregnancy BMI ≥ 24 kg/m<sup>2</sup>, multipara, history of GDM, or family history of diabetes), the incidence of GDM was higher (OR, 1.74; 95% CI, 1.19, 2.56) for the one-step versus two step-step screening, while the incidences of HDP (OR, 0.51; 95% CI, 0.29, 0.90) and macrosomia (OR, 0.62; 95% CI, 0.39, 0.97) were lower.</p><p><strong>Conclusions: </strong>The one-step screening at least performs as well as the two-step screening, potentially more suitable for Chinese pregnant women with high risk factors for GDM. The study was registered at the Chinese Clinical Trial Registry (ChiCTR2100054505) on Dec 18<sup>th</sup>, 2021.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144752701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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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