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 : 2025-05-01Epub 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}
Endocrine ResearchPub Date : 2025-05-01Epub Date: 2024-12-12DOI: 10.1080/07435800.2024.2439408
Alice S Ryan, Monica C Serra, Galya Bigman, Sausan Jaber
{"title":"The Effects of Weight Loss and Aerobic Exercise on Cortisol and Cortisol Suppression in Postmenopausal Women with Overweight and Obesity.","authors":"Alice S Ryan, Monica C Serra, Galya Bigman, Sausan Jaber","doi":"10.1080/07435800.2024.2439408","DOIUrl":"10.1080/07435800.2024.2439408","url":null,"abstract":"<p><strong>Purpose: </strong>The goal of this study was to explore the complex relationship between obesity, dietary content, weight loss, and cortisol concentrations in postmenopausal women with overweight and obesity.</p><p><strong>Methods: </strong>Women completed basal cortisol testing, a dexamethasone suppression test (DST), DXA scan, 3-hour oral glucose tolerance test (OGTT), and food records before (<i>n</i> = 60) and a subset after 6-months of weight loss (WL; <i>n</i> = 15) or aerobic exercise training+weight loss (AEX+WL, <i>n</i> = 34).</p><p><strong>Results: </strong>At baseline, plasma cortisol concentrations decreased significantly after DST in the entire group, a 54% suppression which was associated with basal glucose. Basal glucose levels and glucose AUC from the OGTT are associated with basal cortisol levels (<i>r</i> = 0.44 and <i>r</i> = 0.29, <i>p</i> < 0.05 respectively). The intervention resulted in significant weight loss (-8%) but no significant changes in basal cortisol or changes in cortisol from basal to DST were observed.</p><p><strong>Conclusion: </strong>Additional research is necessary to better comprehend cortisol regulation in postmenopausal women particularly in response to effective weight reduction interventions.</p>","PeriodicalId":11601,"journal":{"name":"Endocrine Research","volume":" ","pages":"87-95"},"PeriodicalIF":1.9,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12045736/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Endocrine ResearchPub Date : 2025-05-01Epub Date: 2025-03-15DOI: 10.1080/07435800.2025.2479256
Chuyi Ruan, Jun Sun, Xiaoqing Liang, Hong Huang, Mingzhi Zhang, Shaoyan Zhang
{"title":"Associations of Palmito-leic Acid and Nervonic Acid Hexosylceramides with Type 2 Diabetes Mellitus in a Prospective Nested Case-control Study Among Chinese Population.","authors":"Chuyi Ruan, Jun Sun, Xiaoqing Liang, Hong Huang, Mingzhi Zhang, Shaoyan Zhang","doi":"10.1080/07435800.2025.2479256","DOIUrl":"10.1080/07435800.2025.2479256","url":null,"abstract":"<p><strong>Objectives: </strong>We aimed to evaluate the associations of hexosylceramides (HexCers) and their ratio with incident type 2 diabetes mellitus (T2DM) and explore underlying mechanisms.</p><p><strong>Methods: </strong>We conducted a nested case-control study using the Suzhou chronic disease cohort including 234 T2DM cases and 468 controls, 1:2 matched on age (±2 y) and sex. HexCer(d18:1/16:1) and HexCer(d18:1/24:1) were measured by targeted UPLC-MS/MS. Multivariable conditional logistic regression was used to estimate the associations of these HexCer species and their ratio with T2DM risk.</p><p><strong>Results: </strong>After adjustment for potential confounders, compared with the lowest quartile, the highest quartile of HexCer(d18:1/24:1) was positively associated with T2DM risk (OR: 1.91; 95%CI, 1.12, 3.26; <i>P</i>-trend <0.05). The ratio of HexCer(d18:1/24:1) to HexCer(d18:1/16:1) showed a positive association with T2DM risk (OR: 1.89; 95%CI, 1.13, 3.18; <i>P</i>-trend <0.05). On the natural log scale, each SD increases in HexCer(d18:1/24:1) and its ratio to HexCer(d18:1/16:1) increased by 29% and 30%, respectively. No significant association for HexCer(d18:1/16:1) was found. Additive value of HexCer(d18:1/24:1) or HexCer(d18:1/24:1)/HexCer(d18:1/16:1) ratio for prediction of T2DM above traditional risk factors.</p><p><strong>Conclusions: </strong>HexCer(d18:1/24:1) and its ratio to HexCer(d18:1/16:1) are positively associated with incident T2DM in a community-based Chinese population. Future studies are warranted to confirm our findings.</p>","PeriodicalId":11601,"journal":{"name":"Endocrine Research","volume":" ","pages":"109-117"},"PeriodicalIF":1.5,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143633586","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 : 2025-02-01Epub Date: 2024-10-21DOI: 10.1080/07435800.2024.2413064
Yang Ou, Yan-Li Zhao, Heng Su
{"title":"Pancreatic β-Cells, Diabetes and Autophagy.","authors":"Yang Ou, Yan-Li Zhao, Heng Su","doi":"10.1080/07435800.2024.2413064","DOIUrl":"10.1080/07435800.2024.2413064","url":null,"abstract":"<p><strong>Purpose: </strong>Pancreatic β-cells play a critical role in regulating plasma insulin levels and glucose metabolism balance, with their dysfunction being a key factor in the progression of diabetes. This review aims to explore the role of autophagy, a vital cellular self-maintenance process, in preserving pancreatic β-cell functionality and its implications in diabetes pathogenesis.</p><p><strong>Methods: </strong>We examine the current literature on the role of autophagy in β-cells, highlighting its function in maintaining cell structure, quantity, and function. The review also discusses the effects of both excessive and insufficient autophagy on β-cell dysfunction and glucose metabolism imbalance. Furthermore, we discuss potential therapeutic agents that modulate the autophagy pathway to influence β-cell function, providing insights into therapeutic strategies for diabetes management.</p><p><strong>Results: </strong>Autophagy acts as a self-protective mechanism within pancreatic β-cells, clearing damaged organelles and proteins to maintain cellular stability. Abnormal autophagy activity, either overactive or deficient, can disrupt β-cell function and glucose regulation, contributing to diabetes progression.</p><p><strong>Conclusion: </strong>Autophagy plays a pivotal role in maintaining pancreatic β-cell function, and its dysregulation is implicated in the development of diabetes. Targeting the autophagy pathway offers potential therapeutic strategies for diabetes management, with agents that modulate autophagy showing promise in preserving β-cell function.</p>","PeriodicalId":11601,"journal":{"name":"Endocrine Research","volume":" ","pages":"12-27"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142460741","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 : 2025-02-01Epub Date: 2024-08-06DOI: 10.1080/07435800.2024.2388606
Manisha Sharma, Kajal Maurya, Anuj Nautiyal, Havagiray R Chitme
{"title":"Monogenic Diabetes: A Comprehensive Overview and Therapeutic Management of Subtypes of Mody.","authors":"Manisha Sharma, Kajal Maurya, Anuj Nautiyal, Havagiray R Chitme","doi":"10.1080/07435800.2024.2388606","DOIUrl":"10.1080/07435800.2024.2388606","url":null,"abstract":"<p><strong>Background: </strong>Monogenic diabetes often occurs as a result of single-gene mutations. The illness is minimally affected by environmental and behavioral factors, and it constitutes around one to five percent of all cases of diabetes.</p><p><strong>Methods: </strong>Newborn diabetes mellitus (NDM) and maturity-onset diabetes of the young (MODY) are the predominant causes of monogenic diabetes, accounting for a larger proportion of cases, while syndromic diabetes represents a smaller percentage. MODY, a group of inherited non-autoimmune diabetes mellitus disorders, is quite common. However, it remains frequently misdiagnosed despite increasing public awareness. The condition is characterized by insulin resistance, the development of diabetes at a young age (before 25 years), mild high blood sugar levels, inheritance in an autosomal dominant pattern, and the preservation of natural insulin production.</p><p><strong>Results: </strong>Currently, there are 14 distinct subtypes of MODY that have been identified. Each subtype possesses distinct characteristics in terms of their frequency, clinical symptoms, severity of diabetes, related complications, and response to medicinal interventions. Due to the clinical similarities, lack of awareness, and high expense of genetic testing, distinguishing between type I (T1D) and type II diabetes mellitus (T2D) can be challenging, resulting in misdiagnosis of this type of diabetes. As a consequence, a significant number of individuals are being deprived of adequate medical attention. Accurate diagnosis enables the utilization of novel therapeutic strategies and enhances the management of therapy in comparison to type II and type I diabetes.</p><p><strong>Conclusion: </strong>This article offers a concise overview of the clinical subtypes and characteristics of monogenic diabetes. Furthermore, this article discusses the various subtypes of MODY, as well as the process of diagnosing, managing, and treating the condition. It also addresses the difficulties encountered in detecting and treating MODY.</p>","PeriodicalId":11601,"journal":{"name":"Endocrine Research","volume":" ","pages":"1-11"},"PeriodicalIF":1.5,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141897126","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}