Endocrine ResearchPub Date : 2025-08-01Epub Date: 2025-05-09DOI: 10.1080/07435800.2025.2503735
Mahir Cevizoglu, Ozgur Erkal, Doga Turkkahraman
{"title":"Thyroglobulin (TG) gene variants in cases with congenital goiter.","authors":"Mahir Cevizoglu, Ozgur Erkal, Doga Turkkahraman","doi":"10.1080/07435800.2025.2503735","DOIUrl":"10.1080/07435800.2025.2503735","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate TG gene variants and their effects on the clinical course of the disease in children with congenital hypothyroidism (CH) who are suspected to have thyroglobulin synthesis defect.</p><p><strong>Methods: </strong>The study was carried out in patients who were suspected to have thyroglobulin synthesis defect due to low serum thyroglobulin level and goiter at the time of diagnosis of CH. Peripheral blood samples were taken and hypothyroidism gene panel including 344 genes was amplified by PCR and sequenced using next-generation DNA sequencing (NGS) method.</p><p><strong>Results: </strong>A total of four eligible cases were identified for genetic analysis, and variants were detected in all of them. In case 1, a previously reported homozygous c.638 + 5 G>A splice site variant was detected. In case 2, compound heterozygous variants including a previously reported nonsense variant c.7111 C>T, (p.Arg2371Ter) on the first allele and a novel nonsense variant c.5748 C>A, (p.Tyr1916Ter) on the second allele were detected. In case 3, a previously reported homozygous nonsense variant c.1888 C>T, (p.Gln630Ter) was detected. In case 4, a novel homozygous intronic variant c.6200-25T>G was detected.</p><p><strong>Conclusion: </strong>The distinctive phenotypic features of TG gene variants, which are one of the rare causes of dyshormonogenesis, provide an advantage in diagnosis. Therefore, we recommend genetic analysis in cases with low thyroglobulin levels and goiter. Our findings support that TG variants show a heterogeneous distribution over the whole gene. Since the relationship between TG gene variants and thyroid cancer, we suggest that clarification of TG gene variants is important in terms of early diagnosis of thyroid nodule and malignancy.</p>","PeriodicalId":11601,"journal":{"name":"Endocrine Research","volume":" ","pages":"157-162"},"PeriodicalIF":1.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974816","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Endocrine ResearchPub Date : 2025-08-01Epub Date: 2025-05-22DOI: 10.1080/07435800.2025.2509986
Monica Majumder, Lucy E Ding, Cameron Wood, Christopher Hodgkins, Eleanor White, Bruce G Robinson, Roderick J Clifton-Bligh, Paul Bonnitcha, Matti L Gild
{"title":"Validation of a Lenvatinib Assay: A Pilot Study.","authors":"Monica Majumder, Lucy E Ding, Cameron Wood, Christopher Hodgkins, Eleanor White, Bruce G Robinson, Roderick J Clifton-Bligh, Paul Bonnitcha, Matti L Gild","doi":"10.1080/07435800.2025.2509986","DOIUrl":"10.1080/07435800.2025.2509986","url":null,"abstract":"<p><strong>Objectives: </strong>Lenvatinib has demonstrated efficacy in improving progression-free and overall survival in patients with radioiodine refractory thyroid cancer. However, treatment-related adverse events (TRAEs) frequently cause dose interruptions and suboptimal dosing, underscoring the importance of monitoring of lenvatinib levels. Currently, there is no validated lenvatinib assay for clinical use. We describe the development of a mass spectrometry assay for accurate quantification of lenvatinib, along with a pilot study reporting peak and trough levels.</p><p><strong>Design, patients and measurements: </strong>A pilot prospective single-center study was conducted at Royal North Shore Hospital, to develop and validate an in-house high-performance liquid chromatography tandem mass spectrometry (LC-MS/MS) assay for measuring plasma lenvatinib levels in patients with radioiodine refractory thyroid cancer. Patient data including dosage, TRAEs, and disease progression were recorded.</p><p><strong>Results: </strong>Lenvatinib doses ranged between 4 mg to 14 mg daily. Trough and peak levels were measured in nine and eight patients respectively. Duration of treatment ranged from 7 to 63 months (mean 29 months), with treatment duration at the time of testing ranging from 1 to 14 months. Trough levels ranged from 4.60 to 30.53 µg/L (median 21.74 µg/L). Peak levels for patients receiving 10 mg (<i>n</i> = 3) ranged from 78.50 to 237.72 µg/L (median 129.56 µg/L), while those receiving 14 mg (<i>n</i> = 4) ranged from 65.10 to 263.64 µg/L (median 185.23 µg/L).</p><p><strong>Conclusions: </strong>Our study describes the successful development of a novel LC-MS/MS assay for quantifying plasma lenvatinib levels. Despite consistent dosing, we observed considerable variability in levels in this group. Further research is required to examine the utility of lenvatinib drug monitoring in the setting of thyroid cancer.</p>","PeriodicalId":11601,"journal":{"name":"Endocrine Research","volume":" ","pages":"175-183"},"PeriodicalIF":1.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144127021","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Endocrine ResearchPub Date : 2025-07-29DOI: 10.1080/07435800.2025.2540286
Oguzhan Yarali, Muharrem Bayrak, Ozge Beyza Gundogdu Ogutlu, Erdal Kurnaz, Sezai Arslan, Engin Sebin, Mustafa Can Guler
{"title":"Genetic insights and biochemical profiles in hyperlipidemia: a cohort study from Eastern Anatolia.","authors":"Oguzhan Yarali, Muharrem Bayrak, Ozge Beyza Gundogdu Ogutlu, Erdal Kurnaz, Sezai Arslan, Engin Sebin, Mustafa Can Guler","doi":"10.1080/07435800.2025.2540286","DOIUrl":"https://doi.org/10.1080/07435800.2025.2540286","url":null,"abstract":"<p><p>This study investigates the genetic and clinical characteristics of hyperlipidemia in patients from Eastern Anatolia. A retrospective cohort of 205 patients (aged 3-71) underwent next-generation sequencing (NGS) to identify genetic variations in lipid metabolism genes (LDLR, APOB and LPL), which were then correlated with the patients' clinical data. Patients with obesity or chronic diseases were excluded. The LDLR c.1729T > C variant was detected in 12 patients. Severe hypertriglyceridemia was observed in patients with homozygous variants in GPIHBP1 and LPL. Elevated triglyceride levels have also been observed to be associated with variants such as APOA5 c.70C > T, thus highlighting their role in lipid metabolism. Phenotypic variation was observed based on the type of genetic variant and its zygosity. The study emphasizes the intricate relationship between lipid metabolism and genetic abnormalities, underscoring potential ramifications for personalized treatment strategies. The report calls for the incorporation of genetic screening into clinical practice with a view to improving diagnostics and outcomes, and it emphasizes the necessity for further research to achieve a full understanding of variants of uncertain significance (VUS) and their associated phenotypes.</p>","PeriodicalId":11601,"journal":{"name":"Endocrine Research","volume":" ","pages":"1-11"},"PeriodicalIF":1.8,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144741665","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Interaction between interleukin 10 (<i>IL-10</i>) gene polymorphisms and obesity on susceptibility to polycystic ovary syndrome in Chinese women.","authors":"Ning Ding, Yi-Rou Chen, Rui-Juan Jia, Xi-Zhou Lu, Shu-Lin Xie, Hui-Ling Shang, Jian-Gang Shuai","doi":"10.1080/07435800.2025.2521386","DOIUrl":"https://doi.org/10.1080/07435800.2025.2521386","url":null,"abstract":"<p><strong>Objectives: </strong>The pathogenesis of polycystic ovary syndrome (PCOS) was complex, and the incident PCOS involves both genetic and environmental factors. However, no study focused on the synergistic effect between interleukin 10 (IL-10) gene and obesity on PCOS risk yet. This study aimed to evaluate the correlation between IL-10 gene single nucleotide polymorphisms (SNPs) and PCOS susceptibility and impact of the interaction between IL-10 gene and obesity on PCOS risk.</p><p><strong>Methods: </strong>A total of 540 participants consisted of 180 PCOS patients and 360 normal controls were enrolled in this study. Logistic regression model was employed to evaluate the association between IL-10 gene polymorphisms and PCOS susceptibility, odds ratios (ORs) and 95% confidence interval (CI) were calculated. Generalized multifactor dimensionality reduction (GMDR) was employed to screen the IL-10 gene-obesity interaction.</p><p><strong>Results: </strong>Logistic regression also indicated that rs1800896-G allele was statistically significant correlated with increased risk of PCOS, the ORs (rs (95%CI) for AG, GG and AG+GG genotype was 1.75 (1.21-2.33), 1.93 (1.17-2.72) and 1.79 (1.26-2.35), respectively. However, no significant difference was observed on the distribution of genotypes and alleles within rs1800890, rs1800871, rs1800872 between PCOS patients and normal controls (all <i>p</i> values > 0.05). GMDR model found a significant interaction combination (two-locus model with <i>p</i> = 0.001) between rs1800896 and obesity, the cross-validation consistency was 10/10 and the prediction error was 0.641. Compared with those non-obese participants with rs1800896-AA genotype, OR (95% CI) was 1.62 (1.14-2.12), 1.46 (1.02-1.95) for non-obese participants with rs1800896-AG or GG genotype, obese participants with rs1800896-AA genotype, and obese participants with rs1800896-AG or GG genotype have the highest PCOS risk, OR (95% CI) = 3.58 (1.81-5.41), after covariates adjusting.</p><p><strong>Conclusions: </strong>We found that rs1800896-G allele, gene-environment interaction between rs1800896 and obesity were all correlated with increased PCOS risk.</p>","PeriodicalId":11601,"journal":{"name":"Endocrine Research","volume":" ","pages":"1-7"},"PeriodicalIF":1.5,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144495223","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Endocrine ResearchPub Date : 2025-06-23DOI: 10.1080/07435800.2025.2520252
Priya Singh, Banalata Mohanty
{"title":"Microbiota and Neuropeptides in Dysbiosis-Driven Inflammation: Emerging Therapeutic Perspectives.","authors":"Priya Singh, Banalata Mohanty","doi":"10.1080/07435800.2025.2520252","DOIUrl":"https://doi.org/10.1080/07435800.2025.2520252","url":null,"abstract":"<p><strong>Background: </strong>The gut microbiota (GM) comprises diverse microorganisms that inhabit the gastrointestinal tract (GIT) and play crucial roles in maintaining the host's health. The fascinating interrelations between the GM and various organs lead to establishing the \"gut-organ\" axis, including the gut-thyroid axis, an emerging research area that requires exploration. Changes in diversity and functionality of GM (dysbiosis) may impact the gut locally and significantly affect other organs, raising concerns about potential systemic effects.</p><p><strong>Method: </strong>We performed a literature search on PubMed/Google-Scholar using the keywords GM and: autoimmune-diseases/inflammation/dietary-supplements/neuropeptides. The search included original studies/reviews/meta-analyses.</p><p><strong>Discussion/conclusion: </strong>Dysbiosis is correlated with many diseases, where alterations in gut-associated neuropeptide levels have been detected. Gut-neuropeptides, secreted by entero-endocrine-cells, are potent neuro-immune modulators, regulate GM homeostasis through antimicrobial and inflammation-modulating properties, and serve as a communication intermediary between GM and host. This review offers a concise overview of the association between GM and neuropeptides, and the roles of microbial metabolites and GIT-neuropeptides during inflammation and stress.</p>","PeriodicalId":11601,"journal":{"name":"Endocrine Research","volume":" ","pages":"1-18"},"PeriodicalIF":1.5,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144474253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Endocrine ResearchPub Date : 2025-05-01Epub Date: 2024-12-24DOI: 10.1080/07435800.2024.2445264
Nazar M Shareef Mahmood, Almas M R Mahmud, Ismail M Maulood
{"title":"Melatonin attenuates responses to angiotensin II in isolated aortic rings of STZ-induced type 1-like DM rats.","authors":"Nazar M Shareef Mahmood, Almas M R Mahmud, Ismail M Maulood","doi":"10.1080/07435800.2024.2445264","DOIUrl":"10.1080/07435800.2024.2445264","url":null,"abstract":"<p><strong>Background: </strong>In patients with diabetes mellitus (DM), vascular endothelial dysfunction (VED) is the main reason for impaired life expectancy. Melatonin (MEL) demonstrates wide-ranging effects across various organs and exhibits pleiotropic characteristics. The current study aims to investigate the modulatory roles of MEL vascular response to angiotensin II (Ang II) and its receptors including angiotensin type 1 receptor (AT-1 R) and angiotensin type 2 receptor (AT-2 R) in isolated thoracic aorta of non-diabetes (non-DM) and diabetes (DM) rats.</p><p><strong>Methods: </strong>The thoracic aortae were isolated in order to investigate the influence of MEL on AT-1 R, using valsartan (VAL) and MT-2Rusing luzindole (LUZ) <i>via</i> dose-response curve (DRC) measurement of Ang II reactivity. In addition, AT-1 R was involved in this study, under PD123319 with ADInstrument organ bath (Panlab apparatus, Harvard University, USA).</p><p><strong>Results: </strong>The maximum response of Ang II was increased significantly in DM condition. In addition, AT-1 R was completely blocked under VAL, while AT-2 R was upregulated in the DM group. The combination of VAL and PD123319 led to abolishing the Ang II effect dramatically as well. Melatonin alone reduced Ang II in the DM group dramatically. This effect was also observed with MEL, PD1213319, and VAL combination, as well as, with MEL, LUZ, and PD1213319 combination.</p><p><strong>Conclusions: </strong>Melatonin has been demonstrated to modulate both AT-1 R and AT-2 R and has influenced the reactivity of Ang II in the aortas of diabetic rats through highly complex mechanisms.</p>","PeriodicalId":11601,"journal":{"name":"Endocrine Research","volume":" ","pages":"96-108"},"PeriodicalIF":1.5,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142885063","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Endocrine ResearchPub Date : 2025-05-01Epub Date: 2025-03-21DOI: 10.1080/07435800.2025.2473896
Jayachidambaram Ambalavanan, Maria Luiza Caramori
{"title":"Management of Diabetes in Patients with Chronic Kidney Disease.","authors":"Jayachidambaram Ambalavanan, Maria Luiza Caramori","doi":"10.1080/07435800.2025.2473896","DOIUrl":"10.1080/07435800.2025.2473896","url":null,"abstract":"<p><strong>Background: </strong>Patients with diabetes and chronic kidney disease (CKD) are at increased risk of kidney disease progression and cardiovascular events.</p><p><strong>Methods: </strong>In this article, we will summarize the 2022 consensus report by the ADA and KDIGO on diabetes management in CKD and include newly available evidence to assist health care professionals in providing optimal care to patients living with diabetes and CKD.</p><p><strong>Results: </strong>Comprehensive care strategies include lifestyle interventions, optimal glycemic, blood pressure, weight, and lipid management, and preferential use of therapies with proven heart and kidney beneficial effects.</p><p><strong>Conclusions: </strong>This article offers a concise overview of the multiple strategies aimed at reducing cardiovascular and kidney risk among people with diabetes and CKD, as recommended by multiple societies.</p>","PeriodicalId":11601,"journal":{"name":"Endocrine Research","volume":" ","pages":"65-75"},"PeriodicalIF":1.5,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143677024","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Endocrine ResearchPub Date : 2025-05-01Epub Date: 2024-11-14DOI: 10.1080/07435800.2024.2427612
Yibo Zhou, Xia Gao, Yu An, Jia Liu, Guang Wang
{"title":"Association Between Serum Uric Acid and Pregnancy Outcomes: A Study in Chinese Women.","authors":"Yibo Zhou, Xia Gao, Yu An, Jia Liu, Guang Wang","doi":"10.1080/07435800.2024.2427612","DOIUrl":"10.1080/07435800.2024.2427612","url":null,"abstract":"<p><strong>Objective: </strong>The study aims to explore the relationship between serum uric acid (UA) levels in the first trimester and pregnancy outcomes.</p><p><strong>Methods: </strong>The clinical data of 1381 pregnant women who delivered in the Department of Obstetrics and Gynecology of Beijing Chao-Yang Hospital from June 2021 to July 2022 were collected. All patients were categorized into four groups (Q1-Q4) according to quartiles of UA, using the first quartile of UA as the reference group. Logistic regression analysis was used to observe the correlation between UA and pregnancy outcomes. Restricted cubic spline (RCS) was drawn to observe the dose-response relationship between UA and pregnancy outcomes.</p><p><strong>Results: </strong>The numbers of GDM patients in Q1-Q4 were 40 (11.70%), 46 (13.49%), 60 (17.29%) and 83 (23.65%), respectively (<i>p</i> < 0.001). Logistic regression analysis showed that higher quartiles of UA were significantly associated with an increased prevalence of gestational diabetes mellitus (GDM). After adjusting for confounding factors (maternal age, prepregnancy BMI, gestational weight gain, and gestational age), compared with the lowest quartile of UA, the highest quartile of UA had 2.06 times odds of GDM (OR, 2.06; 95% CI, 1.34, 3.18; <i>p</i> = 0.001) in Q4. RCS suggested that the risk of GDM increased slowly until UA levels reached 219.43 µmol/L and then began to increase rapidly afterward (overall <i>p</i> = 0.0037).</p><p><strong>Conclusions: </strong>Increased uric acid concentrations in the first trimester are associated with an increased risk of GDM and gestational hypertension.</p>","PeriodicalId":11601,"journal":{"name":"Endocrine Research","volume":" ","pages":"76-86"},"PeriodicalIF":1.5,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616797","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Endocrine ResearchPub Date : 2025-05-01Epub Date: 2025-03-31DOI: 10.1080/07435800.2025.2484198
Yang Bai
{"title":"Effects of Moderate-Intensity Aerobic Exercise on Estrogen Levels and Bone Mineral Density in Ovariectomized Rats.","authors":"Yang Bai","doi":"10.1080/07435800.2025.2484198","DOIUrl":"10.1080/07435800.2025.2484198","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to explore the effects of moderate-intensity aerobic exercise on estrogen levels and bone density density (BMD) in ovariectomized rats.</p><p><strong>Methods: </strong>The sham-operated (SHAM), ovariectomized sedentary (OVX), and ovariectomized exercise (OVX + EX) groups were established. The OVX model was established by bilateral ovariectomy. Bone metabolism indicators, structural mechanical properties of the femur, material mechanical properties of the femur, BMD and bone mineral content were assessed.</p><p><strong>Results: </strong>Compared with the OVX group, the OVX + EX group had lower levels of Ca, P, and STR-ACP, higher BGP levels, increased maximum load, elastic load, maximum stress, and elastic stress of the tibia, elevated serum E2 levels, decreased LH and FSH levels, and higher BMD (all <i>P</i> < 0.05).</p><p><strong>Conclusion: </strong>Moderate-intensity aerobic exercise can enhance serum hormone levels, improve bone metabolism and biomechanical properties, and increase bone density in ovariectomized rats.</p>","PeriodicalId":11601,"journal":{"name":"Endocrine Research","volume":" ","pages":"118-125"},"PeriodicalIF":1.5,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143751615","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}