Endocrine Connections最新文献

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Network insights into childhood obesity: unveiling methylated-differentially expressed genes and pathways through integrative bioinformatics analysis. 儿童肥胖的网络洞察:通过综合生物信息学分析揭示甲基化差异表达基因和途径。
IF 2.6 3区 医学
Endocrine Connections Pub Date : 2025-06-06 Print Date: 2025-06-01 DOI: 10.1530/EC-25-0049
Felipe Mateus Pellenz, Guilherme Coutinho Kullmann Duarte, Giovanna Câmara Giudicelli, Thayne Woycinck Kowalski, Taís Silveira Assmann, Daisy Crispim
{"title":"Network insights into childhood obesity: unveiling methylated-differentially expressed genes and pathways through integrative bioinformatics analysis.","authors":"Felipe Mateus Pellenz, Guilherme Coutinho Kullmann Duarte, Giovanna Câmara Giudicelli, Thayne Woycinck Kowalski, Taís Silveira Assmann, Daisy Crispim","doi":"10.1530/EC-25-0049","DOIUrl":"10.1530/EC-25-0049","url":null,"abstract":"<p><strong>Background: </strong>Childhood obesity, a global epidemic with profound impacts on physical and psychological health, remains a complex challenge with elusive underlying mechanisms. This study aimed to unravel the epigenetic landscape of this disease by identifying methylated-differentially expressed genes (MeDEGs) in childhood obesity through integrated bioinformatics approaches.</p><p><strong>Methods: </strong>Expression profiling (GSE9624) and methylation profiling (GSE25301, GSE27860, and GSE57484) datasets containing data on children with obesity (cases) and eutrophic children (control group) were obtained from the Gene Expression Omnibus (GEO) repository. Differentially expressed genes (DEGs) and differentially methylated genes (DMGs) between the groups were identified using GEO2R. MeDEGs were identified by superimposing the lists of DEGs and DMGs. The protein-protein interaction (PPI) network was constructed using the STRING database and analyzed using Cytoscape. Topological and modular PPI network analyses were carried out using the CytoHubba and MCODE plugins, respectively. Functional enrichment analyses were performed based on Gene Ontology terms and KEGG pathways.</p><p><strong>Results: </strong>A total of 70 MeDEGs were identified, including 45 hypomethylated high-expression and 25 hypermethylated low-expression genes. The PPI network highlighted three hub-bottleneck genes (CCL5, STAT1, and GATA3) and two functional modules. Overall, the 70 MeDEGs were associated with KEGG pathways related to cellular differentiation, inflammation, chemokine signaling, lipid and glucose metabolism, insulin resistance, and apoptosis.</p><p><strong>Conclusion: </strong>This study, employing integrative bioinformatics approaches, provides insights into the methylation-mediated mechanisms contributing to childhood obesity, advancing our understanding of this multifaceted chronic disease.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12147440/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144149862","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
Short stature in pre-pubertal children with X-linked hypophosphatemia. x连锁低磷血症的青春期前儿童身材矮小。
IF 2.6 3区 医学
Endocrine Connections Pub Date : 2025-05-31 Print Date: 2025-06-01 DOI: 10.1530/EC-24-0605
Hanting Liang, Wenting Qi, Chenxi Jin, Cong Zhang, Yushuo Wu, Xiaosen Ma, Qianqian Pang, Ruizhi Jiajue, Yue Chi, Wei Liu, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Jiajun Zhao, Weibo Xia
{"title":"Short stature in pre-pubertal children with X-linked hypophosphatemia.","authors":"Hanting Liang, Wenting Qi, Chenxi Jin, Cong Zhang, Yushuo Wu, Xiaosen Ma, Qianqian Pang, Ruizhi Jiajue, Yue Chi, Wei Liu, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Jiajun Zhao, Weibo Xia","doi":"10.1530/EC-24-0605","DOIUrl":"10.1530/EC-24-0605","url":null,"abstract":"<p><strong>Objective: </strong>Short stature is a characteristic of X-linked hypophosphatemia (XLH). We aim to explore the factors that influence the height of pre-pubertal children with XLH.</p><p><strong>Methods: </strong>Based on a randomized clinical trial of high/low doses of active vitamin D with neutral phosphate treatment for XLH children, we recruited 124 pre-pubertal children with XLH, and 46 participants completed the 24-month follow-up. Participants were separated into the short stature (height Z score < -2) and non-short stature groups (height Z score ≥ -2). Height, medication history, biochemical parameters, the Thacher Rickets Severity Score (RSS), and bone age were evaluated.</p><p><strong>Results: </strong>At baseline, 50.8% of participants were short stature. The height Z score of males (-2.35 ± 1.18) was significantly lower than that of females (-1.86 ± 1.03), P = 0.014. The height Z score had negative correlations with age when enrolled, initial age of medication, and RSS (β: -0.327∼-0.251, P < 0.01), but had a positive correlation with calcium-phosphorus product (β: 0.213, P = 0.015). Compared to the non-short stature group, the proportion of delayed bone age was higher in the short stature group (10.0 vs 42.9%, P < 0.001). At the 24-month follow-up, the median height Z score increased from -1.91 to -1.74 (P = 0.002), whose improvement had no significant differences between groups of male/female, high/low doses of calcitriol, and non-truncating/truncating variants.</p><p><strong>Conclusion: </strong>In pre-pubertal children with XLH, a higher height Z score has associations with females, early initiation of treatment, better bone mineralization, and milder rachitic lesions. Conventional therapy improves their heights, but the efficacy does not depend on sex, active vitamin D dosage, or variant type.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12131737/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143983790","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
Carotid artery constriction in autoimmune hypophysitis: three case reports and literature review. 自身免疫性垂体炎颈动脉收缩:3例报告及文献复习。
IF 2.6 3区 医学
Endocrine Connections Pub Date : 2025-05-28 Print Date: 2025-06-01 DOI: 10.1530/EC-25-0120
Sasan Darius Adib, Daniel Kopf, Brigitte Ruh-Daikeler, Rudi Beschorner, Antje Bornemann, Florian Hennersdorf, Jürgen Honegger
{"title":"Carotid artery constriction in autoimmune hypophysitis: three case reports and literature review.","authors":"Sasan Darius Adib, Daniel Kopf, Brigitte Ruh-Daikeler, Rudi Beschorner, Antje Bornemann, Florian Hennersdorf, Jürgen Honegger","doi":"10.1530/EC-25-0120","DOIUrl":"10.1530/EC-25-0120","url":null,"abstract":"<p><strong>Objective: </strong>An intracavernous internal carotid artery constriction or occlusion (ICAc/o) has been considered an extremely rare finding in autoimmune hypophysitis (AiHy). This study aimed to analyse predictive factors for the occurrence of ICAc/o in AiHy.</p><p><strong>Design: </strong>Retrospective analysis of three of our own cases and 16 published cases.</p><p><strong>Methods: </strong>Among 15 surgically treated patients with AiHy, we identified three cases with ICAc/o via time-of-flight magnetic resonance angiography (TOF MRA) or computed tomography angiography (CTA). In addition, 16 published cases with AiHy and ICAc/o were identified via the literature search. Clinical features, treatment, and outcomes were evaluated.</p><p><strong>Results: </strong>TOF MRA revealed complete bilateral ICA occlusion (ICAo) in case 1 and incomplete bilateral ICA constriction (ICAc) in case 2. In the third case, left-sided ICAo was confirmed by CTA. None of our three patients with AiHy complicated by ICAc/o suffered brain infarction or neurological deficits. All three cases exhibited a parasellar T2 dark sign and strong dural enhancement. With our three cases included, seven of 19 published cases (36.8%) showed complete bilateral ICAo. Among these, four presented with ischaemic stroke. Eight of 19 patients (42.1%) presented with cranial nerve palsy. While all patients presented with hypopituitarism, only five had arginine vasopressin (AVP) deficiency. Interestingly, 11 patients had a recurrent course of hypophysitis.</p><p><strong>Conclusion: </strong>ICAc/o caused by AiHy appears to be more frequent than previously reported. Special attention should be paid to the carotid arteries in AiHy because of the potentially deleterious complication of ICAc/o. Cranial nerve palsy, a parasellar T2 dark sign, strong perisellar dural enhancement, and a recurrent course of hypophysitis can be considered warning signs of the occurrence of ICAc/o.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12120927/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987245","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
LIN 28B expression is downregulated in mature spermatozoa of oligozoospermic men and associates with genetic variants previously linked to pubertal onset. 在少精子男性的成熟精子中,LIN28B的表达下调,并且与先前与青春期发病相关的遗传变异有关。
IF 2.6 3区 医学
Endocrine Connections Pub Date : 2025-05-28 Print Date: 2025-06-01 DOI: 10.1530/EC-25-0044
María Cecilia Lardone, Marina Díaz-Fontdevila, Eliana Ortiz, Germán Iñiguez, Pamela Inostroza, Cristóbal Espinoza, Mauricio Ebensperger, Kristian Almstrup, Andrea Castro
{"title":"LIN 28B expression is downregulated in mature spermatozoa of oligozoospermic men and associates with genetic variants previously linked to pubertal onset.","authors":"María Cecilia Lardone, Marina Díaz-Fontdevila, Eliana Ortiz, Germán Iñiguez, Pamela Inostroza, Cristóbal Espinoza, Mauricio Ebensperger, Kristian Almstrup, Andrea Castro","doi":"10.1530/EC-25-0044","DOIUrl":"10.1530/EC-25-0044","url":null,"abstract":"<p><p>LIN28B is an RNA-binding protein that acts as a post-transcriptional regulator of genes involved in developmental timing and self-renewal through its interaction with let-7 miRNAs. Large-scale genomic studies have strongly implicated SNPs in LIN28B with male puberty timing. In addition, the occurrence of late puberty is linked to diminished semen quality in adult life. Therefore, we aimed to study the association of puberty-linked LIN28B genetic variants with semen parameters, reproductive hormones and the spermatozoa expression of the LIN28B/Let-7 axis in idiopathic oligozoospermic men. One hundred and eleven oligozoospermic (cases) and 258 men with normal sperm concentration (controls) were genotyped for five LIN28B SNPs (rs7759938, rs395962, rs314268, rs314277 and rs314280). The abundance of the LIN28B transcript, let-7a and let-7c miRNAs were measured by qRT-PCR in RNA isolated from purified sperm. Serum blood samples were analysed for reproductive hormones. Lower abundance of the LIN28B transcript and higher expression of let-7c were observed in cases (P < 0.001). Furthermore, rs395962_T was associated with a reduced abundance of the LIN28B transcript in cases (dominant: P = 0.032). On the other side, we observed a positive association of rs314277_A (Additive: P = 0.024), rs7759938_C (dominant: P = 0.025) and rs314280_A (dominant: P = 0.024) with total testosterone levels in cases. The decreased transcript abundance of LIN28B in sperm of idiopathic oligozoospermic men and its association with SNPs known to affect the onset of puberty and total testosterone levels suggests a role for LIN28B in the primary impairment of spermatogenesis through its expression in early germ cells or regulating the testicular biosynthesis of testosterone at a central level. Therefore, our results provide a potential mechanistic link between the regulation of pubertal timing and adult testicular function.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12120926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988803","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
Alterations of brain white matter network topological properties in overt hypothyroidism. 显性甲状腺功能减退患者脑白质网络拓扑特性的改变。
IF 2.6 3区 医学
Endocrine Connections Pub Date : 2025-05-16 Print Date: 2025-05-01 DOI: 10.1530/EC-25-0039
Jinghe Tian, Quan Zou, Jiancang Cao, Liting Wang, Jing Tian, Chen Yang, Wenxiu Ma, Gang Huang, Jian Tan, Wenwen Zhang, Lianping Zhao
{"title":"Alterations of brain white matter network topological properties in overt hypothyroidism.","authors":"Jinghe Tian, Quan Zou, Jiancang Cao, Liting Wang, Jing Tian, Chen Yang, Wenxiu Ma, Gang Huang, Jian Tan, Wenwen Zhang, Lianping Zhao","doi":"10.1530/EC-25-0039","DOIUrl":"10.1530/EC-25-0039","url":null,"abstract":"<p><strong>Purpose: </strong>This study examined the topological properties of brain white matter networks in overt hypothyroidism (OH) patients and their links to cognitive and emotional dysfunction.</p><p><strong>Materials and methods: </strong>Fifty OH patients and 92 healthy controls underwent brain magnetic resonance imaging, clinical assessments and neuropsychological evaluations. Graph-theoretical network analysis based on diffusion tensor imaging was used to calculate global and local topological properties. Between-group differences were analyzed, and partial correlation and mediation analyses were conducted to explore relationships among topological metrics, clinical variables and neuropsychological scores.</p><p><strong>Results: </strong>The OH group showed significantly higher depressive and anxious scores, and lower cognitive scores. In the global topological analysis, the OH group showed decreased global efficiency, which was negatively correlated with the Hamilton Rating Scale for Depression-24 scores. Local topological abnormalities were predominantly observed in the nodal efficiency (NE), degree centrality and nodal local efficiency of several regions within the limbic system and default mode networks. Notably, NE in the left amygdala and left paracentral lobule was negatively correlated with the Hamilton Rating Scale for Depression-24 scores, and decreased NE in the right median cingulate and paracingulate gyri was positively correlated with executive function/visuospatial ability scores and the clock drawing test score.</p><p><strong>Conclusion: </strong>OH patients show depression, anxiety and cognitive impairments linked to global efficiency and regional abnormalities in the limbic system and default mode network. These findings provide insights into the neuropathophysiological mechanisms underlying emotional and cognitive impairments.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12087277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143995219","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
Validation of preoperative BRAF V600E testing by ThyroSCAN PanelChip in thyroid nodules. 甲状腺扫描面板芯片在甲状腺结节术前BRAF V600E检测的验证。
IF 2.6 3区 医学
Endocrine Connections Pub Date : 2025-05-16 Print Date: 2025-05-01 DOI: 10.1530/EC-24-0718
Po-Sheng Lee, Jui-Yu Chen, Chia-Chin Lee, Li-Hsin Pan, Jen-Fan Hang, Po-Chung Kuo, Shan-Fan Yao, Chii-Min Hwu, Chin-Sung Kuo
{"title":"Validation of preoperative BRAF V600E testing by ThyroSCAN PanelChip in thyroid nodules.","authors":"Po-Sheng Lee, Jui-Yu Chen, Chia-Chin Lee, Li-Hsin Pan, Jen-Fan Hang, Po-Chung Kuo, Shan-Fan Yao, Chii-Min Hwu, Chin-Sung Kuo","doi":"10.1530/EC-24-0718","DOIUrl":"10.1530/EC-24-0718","url":null,"abstract":"<p><strong>Objectives: </strong>The high cost of preoperative molecular testing remains a significant barrier to their widespread clinical use. This prospective study aims to investigate the clinical applicability of the ThyroSCAN PanelChip, a qPCR-based method, for preoperative BRAF V600E testing in thyroid nodules.</p><p><strong>Materials and methods: </strong>Adult patients undergoing fine-needle aspiration cytology in outpatient settings between April 2023 and June 2024 were enrolled, and molecular testing was performed on aspiration samples. For patients who proceeded to thyroidectomy, postoperative histopathological findings were compared with preoperative cytology and molecular results. Immunohistochemical VE1 staining on pathology specimens served as the gold standard to validate accuracy. A best-estimate approach was also employed to expand the evaluation, including presumed BRAF V600E-negative cases, such as RAS-positive specimens and benign lesions.</p><p><strong>Results: </strong>Among 73 patients who underwent thyroidectomy and were included in the analysis, preoperative molecular testing identified BRAF mutations in 22 patients, detected the wild-type gene in 39 and classified 12 as inaccessible due to insufficient DNA extraction. For the 38 patients with both preoperative genetic results and VE1 staining, performance metrics were: positive predictive value = 95.5%, negative predictive value = 75.0%, accuracy = 86.8%, sensitivity = 84.0% and specificity = 92.3%. Under the best-estimate approach, metrics improved to positive predictive value = 95.5%, negative predictive value = 89.5%, accuracy = 91.7%, sensitivity = 84.0% and specificity = 97.1%.</p><p><strong>Conclusion: </strong>These findings demonstrate that ThyroSCAN PanelChip effectively identifies BRAF V600E mutations in thyroid nodules using residual thyrocytes from fine-needle aspiration samples.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12087276/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143970381","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 association between the AST/ALT ratio and osteopenia or osteoporosis in patients with type 2 diabetes mellitus. 2型糖尿病患者AST/ALT比值与骨质疏松或骨质减少的关系
IF 2.6 3区 医学
Endocrine Connections Pub Date : 2025-05-13 Print Date: 2025-05-01 DOI: 10.1530/EC-25-0086
Yuan Zhang, Guanhua Chen, Shanshan Lv, Weimin Wang, Yali Jing
{"title":"The association between the AST/ALT ratio and osteopenia or osteoporosis in patients with type 2 diabetes mellitus.","authors":"Yuan Zhang, Guanhua Chen, Shanshan Lv, Weimin Wang, Yali Jing","doi":"10.1530/EC-25-0086","DOIUrl":"10.1530/EC-25-0086","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of this study was to investigate the relationship between the AST/ALT ratio and osteopenia or osteoporosis in patients with type 2 diabetes mellitus (T2DM).</p><p><strong>Methods: </strong>A total of 589 patients with T2DM were divided into two groups based on T-score: T-score ≥ -1.0 group, normal bone mineral density and T-score < -1.0 group, osteopenia or osteoporosis (OP). The association between the AST/ALT ratio and osteopenia/OP was evaluated by multivariate analyses. The receiver operating characteristic (ROC) curves were used to estimate the diagnostic performance according to the area under the ROC curve (AUC).</p><p><strong>Results: </strong>The patients in the T-score < -1.0 group showed significantly higher AST/ALT level than those in the T-score ≥ -1.0 group (0.93 ± 0.16 vs 1.17 ± 0.24, P < 0.001). According to the interquartile range of the AST/ALT ratio, the participants were divided into four groups: Q1 (0.650, 0.874), Q2 (0.875, 0.999), Q3 (1.000, 1.173) and Q4 (1.174, 1.917). After adjustment for confounding factors, compared with Q1 of the AST/ALT level, subjects in Q3 and Q4 remained more likely to have osteopenia or osteoporosis (Q3, OR 3.478, 95% CI 1.641-7.411; Q4, OR 15.278, 95% CI 6.377-36.837). The AST/ALT ratio provided an AUC value of 0.81 (95% CI 0.77-0.84) for osteopenia or osteoporosis in patients with T2DM.</p><p><strong>Conclusion: </strong>An elevated AST/ALT ratio is associated with the evaluated risk of osteopenia/OP in patients with T2DM. The AST/ALT ratio, a practical and cost-effective biomarker, may be a potential predictor of osteopenia/OP in patients with T2DM.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12084757/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143969364","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
Changes in clinical features of adrenal Cushing syndrome: a national registry study. 肾上腺库欣综合征临床特征的变化:一项国家登记研究。
IF 2.6 3区 医学
Endocrine Connections Pub Date : 2025-05-12 Print Date: 2025-05-01 DOI: 10.1530/EC-24-0684
Takuyuki Katabami, Shiko Asai, Ren Matsuba, Masakatsu Sone, Shoichiro Izawa, Takamasa Ichijo, Mika Tsuiki, Shintaro Okamura, Takanobu Yoshimoto, Michio Otsuki, Yoshiyu Takeda, Mitsuhide Naruse, Akiyo Tanabe
{"title":"Changes in clinical features of adrenal Cushing syndrome: a national registry study.","authors":"Takuyuki Katabami, Shiko Asai, Ren Matsuba, Masakatsu Sone, Shoichiro Izawa, Takamasa Ichijo, Mika Tsuiki, Shintaro Okamura, Takanobu Yoshimoto, Michio Otsuki, Yoshiyu Takeda, Mitsuhide Naruse, Akiyo Tanabe","doi":"10.1530/EC-24-0684","DOIUrl":"10.1530/EC-24-0684","url":null,"abstract":"<p><strong>Graphical abstract: </strong></p><p><strong>Abstract: </strong>Adrenal Cushing syndrome (CS) has been rarely studied in recent years in Japan. This study aimed to investigate clinical characteristics and their changes over time in patients with adrenal CS. We analyzed 101 patients with adrenal CS caused by adenoma, dividing them into two groups based on diagnosis period: December 2011-November 2016 (later group, n = 50) and August 2005-November 2011 (earlier group, n = 51). Differences between the groups and comparisons with previous reports were assessed. Patients with subclinical CS were excluded. Adrenal incidentalomas were the most frequent reason for CS diagnosis (34%). Most patients exhibited few specific cushingoid features (2.5 ± 1.3), with moon faces and central obesity being the most common. Compared to earlier reports, specific cushingoid features were less frequent; nonetheless, no significant differences were observed between the earlier and later groups. All patients had midnight and post-dexamethasone suppression test serum cortisol levels exceeding 5 μg/dL. No significant differences were found between the groups regarding non-specific symptoms, endocrinological findings related to cortisol secretion, cardiometabolic commodities or infections, except for glucose intolerance and bone complications. The prevalence of metabolic disorders other than glucose intolerance and osteoporosis fluctuated over time. Sixteen patients developed cardiovascular diseases or severe infections. In conclusion, adrenal CS became less florid in the 2000s, showed no improvement in the following years, and remained associated with a high complication rate. Further research is needed to establish an early detection model for CS.</p><p><strong>Plain language summary: </strong>Our study found that one-sixth of patients with adrenal Cushing syndrome continued to develop severe complications in this century despite their specific cushingoid features being less pronounced than in the past. Notably, the findings provide clinical insights that may aid in earlier disease diagnosis.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":"14 5","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12070466/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143955604","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
Luteal phase oral dexamethasone administration alters endometrial steroid milieu. 黄体期口服地塞米松可改变子宫内膜类固醇环境。
IF 2.6 3区 医学
Endocrine Connections Pub Date : 2025-05-01 Epub Date: 2025-04-09 DOI: 10.1530/EC-24-0638
Natalie Z M Homer, Moira Nicol, Mayank Madhra, Gregorio Naredo-Gonzalez, Sofia Laforest, Ov D Slayden, Stephen G Hillier, Brian R Walker, Pamela Warner, Ruth Andrew, Hilary O D Critchley
{"title":"Luteal phase oral dexamethasone administration alters endometrial steroid milieu.","authors":"Natalie Z M Homer, Moira Nicol, Mayank Madhra, Gregorio Naredo-Gonzalez, Sofia Laforest, Ov D Slayden, Stephen G Hillier, Brian R Walker, Pamela Warner, Ruth Andrew, Hilary O D Critchley","doi":"10.1530/EC-24-0638","DOIUrl":"10.1530/EC-24-0638","url":null,"abstract":"<p><p>We previously published the DexFEM trial, which showed that in women with heavy menstrual bleeding (HMB), oral dexamethasone reduces menstrual blood loss. Here, we report a pharmacodynamic analysis exploring the likely mechanism for this effect. We studied oral dosing with dexamethasone during the mid-luteal phase of two menstrual cycles (1.5 mg daily, 5 days) in five women with HMB (six recruited aged 41–50 years, one withdrew before treatment). Steroid hormones were profiled in serum and endometrium by liquid chromatography-tandem mass spectrometry (LC-MS/MS). We found that following oral dosing, dexamethasone reached the endometrium and that, compared to the preceding control cycle, cortisol (active), cortisone (inactive) and intermediate 11-deoxycortisol were reduced in all samples assessed, both endometrial (n = 4) and serum (n = 5). Concentrations of androgens, androstenedione and testosterone were reduced in serum but not in all tissue samples. This proof-of-concept pharmacodynamic study supports the inference that dexamethasone is effective in HMB by altering endometrial glucocorticoid concentrations.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12007876/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143709146","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
Stressless sampling to improve diagnostics of catecholamine excess: new assay to determine metanephrines in saliva. 无压力取样改善儿茶酚胺过量的诊断:测定唾液中肾上腺素的新方法。
IF 2.6 3区 医学
Endocrine Connections Pub Date : 2025-05-01 Epub Date: 2025-06-01 DOI: 10.1530/EC-25-0023
Per M Thorsby, Sandra R Dahl, Tone Smetop, Tone Hæg Lindholm, Svetlana N Zykova
{"title":"Stressless sampling to improve diagnostics of catecholamine excess: new assay to determine metanephrines in saliva.","authors":"Per M Thorsby, Sandra R Dahl, Tone Smetop, Tone Hæg Lindholm, Svetlana N Zykova","doi":"10.1530/EC-25-0023","DOIUrl":"10.1530/EC-25-0023","url":null,"abstract":"<p><strong>Introduction: </strong>Determination of metanephrines in saliva has been reported as a pain- and hazard-free alternative to plasma-based tests with a potential to reduce false-positive results during diagnostic work-up for neuroendocrine tumours. No validated method has, however, been made available in the published literature so far. The aim of this work was to develop an LC-MS/MS method for measurement of metanephrine, normetanephrine and 3-methoxytyramine in human saliva. As hyposalivation represents a real real-life challenge in situations with catecholamine excess, special effort was made to minimise specimen volume and to make the assay suitable also for paediatric and geriatric populations.</p><p><strong>Methods: </strong>The method validation was performed according to relevant guidelines and included recovery from three different collection swabs (Salivette, SalivaBio and Salimetrics). Selectivity, interferences, matrix effects, limits of quantification, linearity of calibration, sample volume, trueness, within-run and total analytical repeatability, robustness, carry-over and stability were evaluated.</p><p><strong>Results: </strong>A sample volume as low as 20µl was acceptable for all analytes, but 50µl sample volume gave lower LLOQ, higher accuracy and better precision. Total analytical variation was <15% and the minimum turnaround time was 3 hours. Among the sample collection devices tested, highest recovery was achieved with SalivaBio (93 to 104%). Metanephrines were stable in saliva when stored at ambient temperature for 6 h, and tolerated at least one week of freezing at -20°C.</p><p><strong>Conclusion: </strong>The non-invasiveness, ease of specimen collection, better stability of analytes compared to plasma and analytical performance make the method relevant for both research and diagnostics of states with catecholamine excess.</p>","PeriodicalId":11634,"journal":{"name":"Endocrine Connections","volume":" ","pages":""},"PeriodicalIF":2.6,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12084818/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143991920","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
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