Endocrine, metabolic & immune disorders drug targets最新文献

{"title":"Metabolic Disease Management through Natural Products: A Thorough Exploration.","authors":"Pranav Kumar Prabhakar","doi":"10.2174/0118715303426691250717134755","DOIUrl":"https://doi.org/10.2174/0118715303426691250717134755","url":null,"abstract":"","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144710439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"NLRP3 Inflammasome: A New Perspective on Revealing Hotspots and Trends in Uric Acid Metabolism Disorders through Bibliometric Analysis.","authors":"Yi Xu, Yu Wang, Chengjin Lu, Zeyu Liu, Zhijian Lin, Xiaomeng Zhang, Bing Zhang","doi":"10.2174/0118715303376897250702230058","DOIUrl":"https://doi.org/10.2174/0118715303376897250702230058","url":null,"abstract":"<p><p>Uric acid metabolism disorders have become major health concerns, primarily causing conditions such as hyperuricemia, uric acid nephropathy, and gout. Recent research has focused on these disorders' underlying pathological mechanisms and pharmacological treatments, emphasizing the role of the NLRP3 inflammasome. This study aims to analyze and summarize the current research status, hotspots, and trends in this field from a new perspective of the NLRP3 inflammasome, providing insights for future research and disease treatment. Based on the Web of Science Core Collection (WoSCC), this study systematically retrieved all publications related to the NLRP3 inflammasome and uric acid metabolism disorders published between 2009 and 2023. A comprehensive statistical analysis and visualization of the gathered data were conducted using VOSviewer, CiteSpace, R-bibliometrix, Microsoft Excel, Scimago Graphica, and Pajek. A total of 585 articles from 250 journals spanning 49 countries/regions worldwide were identified, demonstrating a consistent annual increase in publications. China contributed the largest number of publications, followed by the United States and South Korea. FRONTIERS IN IMMUNOLOGY emerged as the most prolific journal, while ANNALS OF THE RHEUMATIC DISEASES boasted the highest impact factor. The current research hotspots can be broadly categorized into three themes: the molecular mechanisms underlying NLRP3 inflammasome activation, the pathological mechanisms of NLRP3 inflammasome involvement in uric acid metabolism disorders, and the development of therapeutic compounds/ drugs targeting the NLRP3 inflammasome. Furthermore, the safety of drugs targeting NLRP3 inflammasome may emerge as a significant research trend in the future. Over the past 15 years, the crucial role of the NLRP3 inflammasome in uric acid metabolism disorders has attracted considerable attention. In the foreseeable future, the role of the NLRP3 inflammasome in uric acid metabolism disorders will continue to be a research focus. The development and safety of drugs targeting the NLRP3 inflammasome will remain a future research trend.</p>","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144692944","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Associations of Anthropometric Indicators with Bone Mineral Density and the Risk of Bone Fractures and Falls: A Large-Scale Genetic Correlation Study.","authors":"Xiao Hu, Zhao-Xing Gao, Yan-Yu Zhu, Sheng Li, Wen-Wen Ding, Hai-Feng Pan, Peng Wang","doi":"10.2174/0118715303369995250702111723","DOIUrl":"https://doi.org/10.2174/0118715303369995250702111723","url":null,"abstract":"<p><strong>Introduction: </strong>Although observational studies have suggested potential associations between Anthropometric Indicators (AIs), Osteoporosis (OP), and bone fractures, the causal links are still scarce. This study aimed to comprehensively evaluate the causal relationships between five AIs and site- and age-specific Bone Mineral Density (BMD), as well as bone fractures and falls.</p><p><strong>Methods: </strong>Genetic exposure data for AIs and outcome data for BMD, bone fractures, and falls were retrieved from various genetic consortia. Genome-wide associations of Single-Nucleotide Polymorphisms (SNPs) were selected as Instrumental Variables (IVs) to infer causal effects in univariable and multivariable Mendelian Randomization (MR) analyses.</p><p><strong>Results: </strong>The results of primary univariable MR analyses revealed that a per-unit increase in Hip Circumference (HC) was causally associated with a lower risk of bone fractures (Inverse Variance Weighting [IVW] method: OR = 0.80, 95% CI: 0.74, 0.88; P = 1.73×10^-06). After adjusting for Body Mass Index (BMI), smoking, and alcohol consumption, further Multivariable Mendelian Randomization (MVMR) analysis supported the presence of causal effects of HC on the decreased risk of fractures. Nevertheless, no causal associations were found between Neck Circumference (NC), Waist Circumference (WC), Waist-to-Hip Ratio (WHR), or Intracranial Volume (ICV) and site/age-specific BMD or the risk of bone fractures or falls.</p><p><strong>Discussion: </strong>Genetic MR analysis establishes HC as an independent protective factor against fractures, resolving prior observational evidence. Limitations include European ancestry bias.</p><p><strong>Conclusion: </strong>This study reveals an independent causal association between HC and a lower risk of bone fractures, suggesting that an appropriate increase in HC is beneficial for the prevention of OP.</p>","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144683969","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Combination Therapy of Pasireotide LAR Plus Pegvisomant and Cabergoline Relieved Acromegaly-Related Headache in a Female Patient with AIP-Mutated Acromegaly: A Case Report.","authors":"Penelope Giambò, Sabrina Chiloiro, Antonella Giampietro, Pier Paolo Mattogno, Liverana Lauretti, Laura De Marinis, Antonio Bianchi, Francesco Doglietto, Alfredo Pontecorvi","doi":"10.2174/0118715303400381250715180534","DOIUrl":"https://doi.org/10.2174/0118715303400381250715180534","url":null,"abstract":"<p><strong>Introduction: </strong>Acromegaly is a rare condition characterized by excessive exposure to GH and IGF-1 due to a pituitary adenoma in most cases. The disease is associated with numerous symptoms, including headaches, which are frequently difficult to manage.</p><p><strong>Case presentation: </strong>We report the clinical history of an 11-year-old female patient with an AIP mutation and acromegaly, who was unresponsive to treatment with somatostatin receptor ligands and diagnosed with chronic, disabling headaches resistant to multiple treatments, such as indomethacin, cyclooxygenase-2 inhibitors, gabapentin, melatonin, topiramate, galcanezumab, and verapamil. The patient achieved biochemical control of acromegaly with a combination therapy using lanreotide autogel (Lanreotide ATG) and pegvisomant. However, due to persistent and disabling headaches, lanreotide ATG was discontinued, and combination therapy with pasireotide long-acting release (Pasireotide LAR) and pegvisomant was initiated, resulting in the resolution of the headache, with sustained improvement over time.</p><p><strong>Conclusion: </strong>This case report highlights the potential benefits of pasireotide in the treatment of refractory headaches, particularly when combined with pegvisomant.  .</p>","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144683970","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identifying AIM2 Circulating Methylation Levels as a Novel Diagnostic Biomarker for Rheumatoid Arthritis Using Targeted DNA Methylation Sequencing.","authors":"Jianan Zhao, Binghen He, Yu Shan, Kai Wei, Ping Jiang, Yiming Shi, Cen Chang, Yixin Zheng, Fuyu Zhao, Yunshen Li, Yuejuan Zheng, Yehua Jin, Xinliang Lv, Mengru Guo","doi":"10.2174/0118715303401357250707080740","DOIUrl":"https://doi.org/10.2174/0118715303401357250707080740","url":null,"abstract":"<p><strong>Introduction: </strong>This study investigated the association between <i>AIM2</i> cg11003133 DNA methylation and Rheumatoid Arthritis (RA), evaluating its diagnostic potential for RA and subtypes.</p><p><strong>Methods: </strong>MethylTarget™ sequencing targeted <i>AIM2</i> cg11003133 (chr1:159076528-159076740) in RA, Ankylosing Spondylitis (AS), Psoriatic Arthritis (PsA), gout, Systemic Lupus Erythematosus (SLE), Dermatomyositis (DM), primary Sjögren's Syndrome (SS), and Healthy Controls (HC) patients. Logistic regression, random forest, and XGBoost models were applied, with Spearman's correlation used to assess associations.</p><p><strong>Results: </strong>RA and RF/CCP-positive patients showed significantly higher methylation at cg11003133_79/91 compared to HC and AS (FDR < 0.05), but lower levels compared to DM. Methylation at cg11003133_139 was elevated in RA compared to AS/SS (FDR = 0.04/0.03). Anti- TNF-α non-responders had higher cg11003133_79/91 methylation levels compared to HC/AS non-responders (FDR < 0.05). RF-negative RA patients had higher cg11003133_91 methylation than AS patients who failed anti-TNF-α treatment (FDR < 0.05). Haplotype CCCC correlated positively with CRP (r = 0.14, P = 0.006); TTTT was significantly negatively correlated with erythrocyte sedimentation rate, CRP, and the presence of diabetes (r = -0.18, -0.15, and -0.14; P < 0.001, 0.003, and 0.008, respectively). XGBoost and RF models achieved AUCs of 0.9911 and 0.9975 for RA versus non-RA, and 1 for RF/CCP double-negative versus double-positive RA.</p><p><strong>Discussion: </strong><i>AIM2</i> cg11003133 methylation is strongly linked to RA, aligning with its role in inflammasome activation. While promising for diagnostics, larger validation is needed.</p><p><strong>Conclusions: </strong><i>AIM2</i> cg11003133 methylation may serve as a diagnostic biomarker for RA and subtypes.</p>","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144677122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Palmatine Ameliorates High-Temperature and High-Humidity-Induced Enteritis <i>Via</i> Mitophagy and NLRP3 Inflammasome Degradation.","authors":"Xiaoying Mo, Tai Mi, Wanli Liu, Yao Wang, Yalan Wu, Xinhua Huang, Song Chen, Huanhuan Luo","doi":"10.2174/0118715303348448250605071743","DOIUrl":"https://doi.org/10.2174/0118715303348448250605071743","url":null,"abstract":"<p><strong>Background: </strong>Previous studies have shown that a High-Temperature- and High-Humidity (HTH) environment leads to mild enteritis, accompanied by impaired mitophagy and activated NLRP3-IL-1β, as found in Inflammatory Bowel Disease (IBD). Therefore, whether Palmatine (PAL), a candidate for treating IBD, ameliorates HTH-induced enteritis via mitophagy-associated mechanisms was examined. This study aimed to investigate the protective effects of PAL against HTH-induced enteritis in mice and determine the underlying mechanisms.</p><p><strong>Methods: </strong>BALB/c mice were used to model HTH-induced enteritis. The mice were exposed to an HTH environment (33 ± 0.5°C, 85-90% humidity) for 28 days, with PAL or Cyclosporin A (CsA) administered daily. Mice were euthanized on days 7, 14, 28, or 35 to analyze the ileal tissues. Pathological examination, western blotting (Parkin, NLRP3, IL-1β), immunofluorescence (8-OHDG), and mtDNA quantification were performed to assess the therapeutic effects of the treatment.</p><p><strong>Results: </strong>A total of 884 and 2,668 potential targeted genes were identified for PAL and IBD, respectively, including 183 overlapped genes, which were mainly involved in oxidative stress, inflammation, and autophagy. HTH induced weight loss and loose faeces, along with increased NLRP3, IL-1β, and 8-OHDG expressions, and decreased Parkin and mtDNA expressions in the ileum. These effects were ameliorated and exacerbated by PAL and CsA treatment, respectively.</p><p><strong>Conclusion: </strong>PAL ameliorated HTH-induced enteritis probably via augmenting mitophagy and inhibiting NLRP3 expression. The findings highlight the critical role of mitophagy in the pathogenesis of HTH-induced enteritis and support the potential use of PAL in treatment.</p>","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144651713","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Omalizumab as an Effective Therapy for Testosterone-induced Angioedema in a Transgender Person: A Case Report.","authors":"Lorenzo Marinelli, Giovanna Motta, Lorenzo Castella, Susanna Voltolini, Antonino Romano, Angelica Del Giudice","doi":"10.2174/0118715303399441250701073138","DOIUrl":"https://doi.org/10.2174/0118715303399441250701073138","url":null,"abstract":"<p><p><p> Background: Gender affirming hormone therapy is a cornerstone for transgender and gender diverse individuals. We report the first case in the literature of systemic allergic reactions to testosterone therapy and how we succeeded in managing them. </p> <p> Case Presentation: A 19-year-old transgender person assigned female at birth started testosterone therapy to achieve full masculinization. For 14 months, testosterone was administered <i>via</i> transdermal and intramuscular preparations and was well tolerated. However, the individual later developed several angioedematous reactions at different times, despite the use of various testosterone formulations. Allergy evaluations, such as blood tests, SPT, IDT, and drug challenges for both testosterone and excipients, were conducted; the drug challenge for testosterone was positive, confirming it as the trigger of angioedema. The use of omalizumab 150 mg subcutaneously every two weeks allowed the patient to resume testosterone therapy without further systemic reactions. This helped to reduce the patient's perceived stress and supported his psycho-physical well-being. </p> <p> Conclusion: Omalizumab was able to successfully manage the systemic allergic reactions to testosterone therapy, and this report could be useful for other clinicians facing similar clinical situations. </p>.</p>","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144628409","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Yipishen Xiezhuo Jiedu Decoction in Ameliorating Kidney Damage Through miR-223/NLRP3/ Caspase-1 Pathway.","authors":"Jianfei Weng, Dengyong Zheng, Huijun Chen, Zhangcheng Huang, Xiaojing Wu, Weijie Zheng, Zi Yu, Qinghui Xu","doi":"10.2174/0118715303402744250704071034","DOIUrl":"https://doi.org/10.2174/0118715303402744250704071034","url":null,"abstract":"<p><p><p> Introduction: Hyperuricemia Nephropathy (HN) is an emerging metabolic disorder that predisposes individuals to Chronic Kidney Disease (CKD), yet effective treatments remain limited. Inflammation plays a pivotal role in HN-induced kidney injury, with the NLRP3 inflammasome serving as a central mediator of this process. This study investigates the therapeutic effects of Yipishen Xiezhuo Jiedu Decoction (YPSXZJDD), a traditional Chinese medicine, on HNinduced kidney injury through the miR-223/NLRP3/Caspase-1 pathway. </p> <p> Materials and Methods: The key active components of YPSXZJDD were screened using UHPLC- Q Exactive Orbitrap-MS, and a Protein-Protein Interaction (PPI) network diagram was constructed to explore potential mechanisms of action. The identified components were then utilized to intervene in both cellular and animal models of hyperuricemic nephropathy, evaluating their therapeutic effects and underlying mechanisms. </p> <p> Results: Catalpol and Tanshinone IIA were identified as the key active components of YPSXZJDD. These compounds significantly mitigated renal epithelial cell apoptosis and inflammation by upregulating miR-223, which in turn inhibited the NLRP3/Caspase-1 pathway. The upregulation of miR-223 led to a marked reduction in NLRP3 activity and inflammatory responses, thereby alleviating HN-induced kidney damage. </p> <p> Discussion: The findings of this study underscore the critical role of miR-223 in regulating the NLRP3 inflammasome and highlight its potential as a therapeutic target for HN. The inhibition of the NLRP3/Caspase-1 pathway by miR-223 significantly reduces inflammation and renal injury, demonstrating the therapeutic efficacy of YPSXZJDD. These results offer a novel perspective on the application of traditional Chinese medicine in treating HN, highlighting the importance of miR-223 in regulating inflammation. </p> <p> Conclusion: This study demonstrates that YPSXZJDD alleviates HN-induced kidney injury by upregulating miR-223 and inhibiting the NLRP3/Caspase-1 pathway. The therapeutic potential of YPSXZJDD is supported by its ability to mitigate inflammation and renal damage, offering a promising approach for HN treatment. Further research into the broader role of miR-223 in kidney disease and related conditions is warranted to expand the understanding of its therapeutic applications. </p>.</p>","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144628410","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chinese Patent Medicine Nei-Xiao-Pian Shrinks Thyroid Nodules by Regulating Proliferation and Apoptosis of Cells <i>via</i> Inhibiting the IL-6/JAK2/STAT3 Signaling Pathway.","authors":"Yu-Ting Zhao, Yang Yang, Wen-Ting Mei, Ting Chen, Wei Wei, Yu-Chen Wu, Xiao Yu, Fei Huang","doi":"10.2174/0118715303380988250627113427","DOIUrl":"https://doi.org/10.2174/0118715303380988250627113427","url":null,"abstract":"<p><strong>Background: </strong>Thyroid nodules (TN) are distinct lesions within the thyroid gland that can cause compression symptoms, disrupt thyroid function, and impact aesthetics and daily life. Nei-Xiao-Pian (NXP), a traditional Chinese patent medicine developed by Suzhou Hospital of Traditional Chinese Medicine, has been effectively used in clinical treatment for TN. Due to the complex nature of traditional Chinese medicine (TCM), limited clinical research exists on NXP, and its precise mechanisms of action remain largely unknown.</p><p><strong>Methods: </strong>In this study, we investigated the effects of NXP on human tumorous thyroid cells and papillary thyroid carcinoma (PTC) cells. Cells were treated with animal serum containing different concentrations of NXP. Cell viability, cell cycle progression, and apoptosis were assessed using the CCK-8 assay and flow cytometry. A literature review was also conducted to understand the physiological and pathological mechanisms underlying TN. Furthermore, we examined the involvement of the IL6/JAK2/STAT3 signaling pathway in the action of NXP by measuring the protein expression levels of IL-6, JAK2, and STAT3 in PTC cells using western blotting.</p><p><strong>Results: </strong>The present study showed that serum with a specific concentration of NXP reduced the viability of both tumorous thyroid cells and PTC cells, inhibited the proliferation of tumorous thyroid cells, and induced apoptosis. While NXP-containing serum did not significantly affect the cell cycle in PTC cells, it induced apoptosis in a dose-dependent manner. Additionally, NXP-containing serum dose-dependently suppressed the protein expressions of IL-6, JAK2, and STAT3 in PTC cells.</p><p><strong>Conclusion: </strong>Our findings suggest that NXP may exert its therapeutic effects on TN by targeting the IL6/JAK2/STAT3 signaling pathway, thereby slowing disease progression. These results highlight a potential mechanism through which NXP could contribute to tumor prevention and treatment, offering a promising direction for future research.</p>","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610854","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Ectopic ACTH Syndrome Caused by Pheochromocytoma: A Case Report and Systematic Review.","authors":"Jiadian Huang, Cuiping Lin, Lixuan Fang, Lijuan Gu, Xia Cai, Haixia Zeng, Kang Chen, Yiming Mu, Jianping Liu","doi":"10.2174/0118715303372676250628161600","DOIUrl":"https://doi.org/10.2174/0118715303372676250628161600","url":null,"abstract":"<p><strong>Introduction: </strong>Ectopic adrenocorticotropic hormone (ACTH) syndrome caused by pheochromocytoma is extremely rare, and its highly variable clinical manifestations make diagnosis challenging.</p><p><strong>Case presentation: </strong>This report describes a case of a 48-year-old female with typical Cushingoid features who complained of edema in both lower limbs for 20 days. Laboratory testing showed hypokalemia with metabolic alkalosis, high levels of cortisol and ACTH, and the absence of circadian rhythm. Neither low-dose or high-dose dexamethasone suppression testing could inhibit cortisol secretion. Abdominal computed tomography showed a 32-mm mass in the left adrenal gland and hyperplasia of the right adrenal gland. The patient underwent resection of the left-sided adrenal adenoma, and pathological examination revealed features of a pheochromocytoma. Immunohistochemistry showed positivity for chromogranin A, synaptophysin, neuron-specific enolase, and ACTH, with a Ki67 labeling index of approximately 1%. Post-operatively, the patient's electrolyte, serum cortisol, and ACTH levels returned to normal rapidly, and the symptoms of edema resolved. The diagnosis was ectopic ACTH syndrome caused by pheochromocytoma.</p><p><strong>Conclusion: </strong>Based on this case and the presented literature review, we recommend that all patients with an elevated ACTH level and adrenal mass be screened for ectopic ACTH syndrome caused by pheochromocytoma.</p>","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610855","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}