Endocrine, metabolic & immune disorders drug targets最新文献

{"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":"10.2174/0118715303399441250701073138","url":null,"abstract":"<p><strong>Background: </strong>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><strong>Case presentation: </strong>A 19-year-old transgender person assigned female at birth started testosterone therapy to achieve full masculinization. For 14 months, testosterone was administered via 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><strong>Conclusion: </strong>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>","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":"e18715303399441"},"PeriodicalIF":2.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13284657/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144628409","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Advances in the Mechanism of Plateau Hypoxia Modulating the Induction of Non-alcoholic Fatty Liver Disease.","authors":"Minghui Zhao, Hongfang Mu, Ziqin Wei, Qian Ji, Wenbin Li, Rong Wang","doi":"10.2174/0118715303444262260413195622","DOIUrl":"https://doi.org/10.2174/0118715303444262260413195622","url":null,"abstract":"<p><p>Non-alcoholic fatty liver disease (NAFLD) is a prevalent chronic liver condition that poses a significant threat to human health globally. Recent studies have established a strong correlation between liver diseases and hypoxic environments, revealing varying degrees of tissue hypoxia during the progression of NAFLD, chronic hepatitis, and cirrhosis. Liver tissue is susceptible to damage in low-oxygen environments, such as those found at high altitudes, which significantly increases the prevalence of NAFLD. Concurrently, hypoxia can induce oxidative stress, leading to insulin resistance (IR), mitochondrial dysfunction, inflammatory responses, and disturbances in intestinal flora. Changes in these levels can disrupt liver function, trigger lipid deposition, and ultimately lead to hepatocyte death. Additionally, the enhanced inflammatory response of various immune cells can further accelerate the progression of hepatic fibrosis, deepening the degree of hypoxia. This creates a vicious cycle that ultimately aggravates disease progression. By modifying dietary habits, avoiding hypoxic environments, providing appropriate treatment for drugs that affect IR, and rationally using medications that balance intestinal flora, effective strategies for preventing and improving NAFLD may be developed. In summary, this paper discusses the research progress related to plateau hypoxia and NAFLD, and it summarizes the prevention, diagnosis, and treatment of NAFLD in conjunction with its pathogenesis.</p>","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":"26 ","pages":"e18715303444262"},"PeriodicalIF":2.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148972988","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":"Sars-Cov-2 Infection as Catecholamin Crisis in Pheocreomocitoma: A Case Report","authors":"Roberto Novizio, Andrea Corsello, Gaetano Emanuele Rizzo, Alfredo Pontecorvi, Pietro Locantore","doi":"10.2174/0118715303348376250103113426","DOIUrl":"10.2174/0118715303348376250103113426","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;The primary presentation of SARS-CoV-2 infection is viral pneumonia, which may be complicated by acute respiratory distress syndrome, although several other manifestations can occur.. Endocrine implications have been described. Pheochromocytomas are rare tumors mainly originating in the adrenal medulla. Symptoms are primarily due to catecholamine overproduction and abrupt release. Catecholamine release is unregulated and could be continuous or paroxysmal. Some conditions (i.e., stress, physical exercise, or specific foods) can trigger catecholamine release. Sars-CoV-2 infections have not been previously described as precipitators of adrenergic crises in pheochromocytoma patients. In this study, we report a case of adrenal crisis of a patient affected by pheochromocytoma in the context of Sars-CoV-2 infection.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Case report: &lt;/strong&gt;A 63-year-old Caucasian male known for right adrenal pheochromocytoma waiting for surgical removal was admitted to the Emergency Department (ED) in March 2021 for a fainting episode and hypertensive crisis that he never experienced before.\u0000\u0000The patient had a known medical history of type 2 mellitus diabetes and hypercholesterolemia treated by slow-release metformin 500 mg/day and atorvastatin 40 mg/day and was not vaccinated for Sars-CoV-2. Two months before, the patient was hospitalized in another hospital for myocardial infarction with non-obstructive coronary arteries, and a chest-abdomen TC scan showed a right adrenal lodge occupied by coarse formation. In the 24-h urine sample, metanephrines were &gt;5000 μg/24 h and Normetanephrines &gt;2500 μg/24 h. Scintigraphy with 123I-Metaiodobenzylguanidine (MIBG) showed accumulation in right adrenal gland formation, confirming the suspicion of pheochromocytoma. No further areas of pathological uptake were present. Fort that, the patient was started on alpha-blockers (doxazosin 2 mg twice/day). Two weeks later, the patient was also prescribed metoprolol 50 mg twice/day.\u0000\u0000When admitted to the Emergency Department (ED), Blood Pressure (BP) was 210/108 mmHg with a heart rate of 105 bpm. A routine nasopharyngeal swab for Sars-CoV-2 was performed, resulting positive. After an extra dosage of 2 mg of doxazosin and 20 mg of nifedipine, symptoms addressed to catecholamine release disappeared. Being positive for Sars-CoV-19, the patient was transferred to the infectious diseases department. High mean BP was demonstrated at the control profile. Doxazosin was increased to 4 mg twice a day with a good effect on BP and tachycardia. After 10 days, the SARS-CoV-2 swab result was negative, and the patient was discharged with normal vital parameters and instructions to continue the increased dose of doxazosin. No other crisis was reported until surgery, which was performed without any complications after 1 month.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;Since the adrenal crisis is a life-threatening condition, we suggest close BP monitoring and therapeutic a","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":"e18715303348376"},"PeriodicalIF":2.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13284643/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143416350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Empagliflozin and Arterial Stiffness in Patients with Type 2 Diabetes: A Real-World Case-Control Study","authors":"Francesco Tassone, Cinzia Ferreri, Arianna Rossi, Giorgio Borretta, Guido Pastorini, Fabio Anastasio, Mauro Feola","doi":"10.2174/0118715303372020250131060159","DOIUrl":"10.2174/0118715303372020250131060159","url":null,"abstract":"<p><strong>Background: </strong>Sodium-glucose cotransporter-2 (SGLT2) inhibitors have demonstrated beneficial cardiovascular and renal effects in patients with type 2 diabetes mellitus (T2DM).</p><p><strong>Objective: </strong>The objective of this case-control study was to evaluate the efficacy of empagliflozin in modifying the arterial stiffness in type 2 diabetic patients.</p><p><strong>Methods: </strong>Pulse wave velocity (PWV) and other parameters of arterial stiffness were assessed at baseline and after three months of empagliflozin treatment in 16 consecutive outpatients with type 2 diabetes mellitus (T2DM) exhibiting normal left ventricular function and no signs of heart failure. A control group of 16 T2DM outpatients not treated with SGLT2 inhibitors was used for comparison.</p><p><strong>Results: </strong>Duration of diabetes mellitus and sex distribution did not differ between groups. Patients in the empagliflozin group were younger compared to controls (64.1 ± 8.68 vs 74.45 ± 8.13, p < 0.05). At 3-month follow-up, empagliflozin treatment significantly reduced HbA1c (7.9 ± 0.78 vs 7.04 ± 1.09%, p < 0.008). Empagliflozin significantly improved PWV compared to controls (from 13.2 ± 2.0 m/sec to 12.3 ± 1.8 m/sec; P = 0.001; in the control group 12.8 ± 2.3m/s to 13.2 ± 2.4, p = ns, with age and HbA1c as covariates) as well as body weight that significantly reduced (86.75 ± 16.16 kg vs 81.71 ± 16.5 kg, p =0.001) and BMI (30.48 ± 5.4 versus 28.75 ± 5.66 kg/m2, p < 0.002) in comparison to controls. Estimated glomerular filtration rate (eGFR) remained unchanged whereas a significant improvement of urine Albumin to Creatinine ratio with empagliflozin emerged (17.8 ± 46.8 vs 12.2 ± 35.7 mg/mmol, p = 0.049).</p><p><strong>Conclusion: </strong>In this clinical study, mid-term treatment with empagliflozin in patients with type 2 diabetes mellitus (T2DM) resulted in a significant reduction in arterial stiffness. Additionally, the improvement in the urine albumin-to-creatinine ratio suggests a potential enhancement in endothelial function.</p>","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":"e18715303372020"},"PeriodicalIF":2.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13284644/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143461348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Role of the Toll-Like Receptor Signaling Pathway in Autoimmune Diseases and Treatment with Traditional Chinese Medicine: A Literature Review","authors":"Yaru Wang, Lin Bao, Mingying Liu, Xintian Tang, Hui Liu, Xiaodong Liang, Yifan Liu","doi":"10.2174/0118715303340093241227094242","DOIUrl":"10.2174/0118715303340093241227094242","url":null,"abstract":"<p><p>Toll-Like Receptors (TLRs) is a pattern recognition receptor that connects innate and adaptive immunity and participates in inflammatory responses play a key role in common autoimmune diseases such as Rheumatoid Arthritis (RA), systemic lupus erythematosus (SLE), psoriasis, and Sjögren’s syndrome (SS) by participating in antigen recognition, immune cell activation, and inflammatory factor release. Due to the multi-component and multi-target characteristics of traditional Chinese medicine (TCM), the role of TCM active ingredients acting on TLRs has been widely studied. This article describes the relationship between TLR and four autoimmune diseases, as well as a review of the efficacy of TLR intervention by active ingredients of traditional Chinese medicine. To provide some basis for the future clarification of the mechanism of action of drugs for autoimmune diseases and to assist in the development of new medicines.</p>","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":"e18715303340093"},"PeriodicalIF":2.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143026187","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 Inflammatory Response in Metabolic Syndrome.","authors":"Luz Andrea Martínez-Pérez, Grecia Denisse González-Sánchez, Fernando Martínez-Esquivias, Julieta Saraí Becerra-Ruiz, Juan Manuel Guzmán-Flores","doi":"10.2174/0118715303385742250610120711","DOIUrl":"10.2174/0118715303385742250610120711","url":null,"abstract":"<p><p>Metabolic syndrome (MS) encompasses a cluster of metabolic disorders that significantly increase the risk of developing cardiovascular diseases and type 2 diabetes mellitus. While the precise etiology of MS remains unclear, it is widely recognized as a multifactorial condition influenced by environmental, lifestyle, and genetic factors. Inflammation, a fundamental physiological response designed to maintain homeostasis, plays a central role in MS. When the body detects foreign substances or cellular stress, the immune system is activated, synthesizing signaling molecules, such as cytokines and chemokines. However, prolonged or dysregulated immune activation can result in chronic low-grade inflammation, a hallmark of MS. This persistent inflammatory state contributes to the pathophysiology of MS by promoting insulin resistance, endothelial dysfunction, and adipose tissue remodeling. The diagnostic criteria for MS, including central obesity, dyslipidemia, hyperglycemia, and hypertension, are all associated with inflammatory processes mediated by the activation of both innate and adaptive immune systems. This review explores the intricate relationship between each diagnostic criterion of MS and the inflammatory response. By delving into the immunological mechanisms underpinning MS, we aim to understand how inflammation links metabolic dysregulation to disease progression comprehensively. This knowledge could pave the way for targeted therapeutic interventions and lifestyle modifications to mitigate the global burden of MS.</p>","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":"e18715303385742"},"PeriodicalIF":2.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144478387","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":"CD27 and GZMK as Co-Biomarkers in Rheumatoid Arthritis and Crohn's Disease and Mediate Immune Imbalance","authors":"Li Zheng, Yong Zeng, Miao Fang, Hongquan Heng, Ying Luo, Jie Zhong","doi":"10.2174/0118715303372365250421114853","DOIUrl":"10.2174/0118715303372365250421114853","url":null,"abstract":"<p><strong>Background: </strong>Studies have found similar immune responses, genetic susceptibility, and inflammatory mediators between Rheumatoid arthritis (RA) and Crohn’s disease (CD), but these findings are controversial.</p><p><strong>Methods: </strong>The Gene Expression Omnibus (GEO) was utilized to get microarray data. Differentially expressed genes (DEGs) in individuals with CD and RA were identified. Weighted gene co-expression network analysis (WGCNA) was used to identify key modular genes in CD and RA. The least absolute shrinkage and selection operator (LASSO) logistic regression was used to identify hub genes. The correlation between immune cell infiltration and common biomarkers was examined by utilizing the GSEA and ssGSEA.</p><p><strong>Results: </strong>CD27 and GZMK were recognized as co-biomarkers in RA and CD. The analysis of immune infiltration revealed a significant relationship between a range of immune cells, including CD8 T cell, MDSC, and natural killer T cell, and both RA and CD.</p><p><strong>Conclusion: </strong>CD27 and GZMK are biomarkers shared by CD and RA and are potential diagnostic and therapeutic targets for them, especially in patients with CD combined with RA. CD and RA are highly associated with dysregulation of the acquired immune response system and imbalance of the innate immune system.</p>","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":"e18715303372365"},"PeriodicalIF":2.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13563492/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144034799","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comprehensive Review on the Protective Effects of Lycium barbarum Polysaccharide on Neurodegenerative Diseases","authors":"Qingxin Lu, Xin Di, Xiaoli Guo","doi":"10.2174/0118715303393082251027072838","DOIUrl":"10.2174/0118715303393082251027072838","url":null,"abstract":"<p><p>Neurodegenerative diseases including Alzheimer’s disease, Parkinson’s disease, Huntington’s disease, ischemic stroke, and other related conditions, significantly impact the quality of life, particularly in low-income nations. The pathogenesis of these diseases is driven by neuroinflammation, oxidative stress, apoptosis, mitochondrial dysfunction, and regulation of autophagy. To date, no therapies or medications can fully reverse the progression of these diseases. Natural polysaccharides have demonstrated significant therapeutic potential in the treatment of neurodegenerative diseases. Lycium barbarum polysaccharide, derived from the traditional Chinese medicine Lycium barbarum L., has attracted considerable attentionfor its diverse biological activities, biodegradability, ease of modification, and low toxicity. This review aims to systematically evaluate the neuroprotective effects of Lycium barbarum polysaccharides and their mechanisms in various neurodegenerative disease models. For this study, we used multiple scientific databases, including PubMed, Scopus, Web of Science, and Google Scholar. We verified the correct plant name through the website plantlist.org. The search results were interpreted and documented based on the retrieved bibliographic information. Lycium barbarum polysaccharide has shown significant therapeutic potential for the treatment of neurodegenerative diseases. Experimental evidence reveals its neuroprotective effects through various mechanisms, including reducing neuroinflammation, alleviating oxidative stress, inhibiting apoptosis, improving mitochondrial function, and regulating autophagy. The current review established that Lycium barbarum polysaccharide holds promise as a therapeutic agent for neurodegenerative diseases. However, further research is required to address the limitations identified in previous studies and to guide future experimental investigations and clinical applications.</p>","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":"e18715303393082"},"PeriodicalIF":2.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13563431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145703511","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association Between Irritable Bowel Syndrome and Hypothyroidism: Insights from Large-Scale Population-Based Studies","authors":"Jing Wu, Ziwei Liu, Luna Liu, Qian Liu, Shiwei Sun, Huijie Li, Fei Li, Meng Zhou, Yongfeng Song","doi":"10.2174/0118715303390590250928210823","DOIUrl":"10.2174/0118715303390590250928210823","url":null,"abstract":"<p><strong>Introduction: </strong>Irritable Bowel Syndrome (IBS) and hypothyroidism are both common conditions that significantly affect patient health. This study examines the link between IBS and hypothyroidism, focusing on how IBS impacts hypothyroidism.</p><p><strong>Methods: </strong>A retrospective cohort study using data from the UK Biobank (UKB) and a cross-sectional analysis from the National Inpatient Sample (NIS) were conducted. Propensity score matching was applied to control for confounding factors. Cox proportional hazards models (UKB) and logistic regression models (NIS) were used to evaluate the association between IBS and hypothyroidism. Subgroup analyses by age and sex were performed.</p><p><strong>Results: </strong>The UKB cohort included 22,970 IBS patients (mean age 56.1 ± 7.94 years, 72.2% female) with a hypothyroidism prevalence of 4.1%, compared to 438,094 non-IBS participants (mean age 56.4 ± 8.12 years, 51.9% female) with a prevalence of 2.9%. In the NIS, 183,738 IBS patients had a hypothyroidism prevalence of 20.6%, compared to 10.3% in 20,298,589 non-IBS participants. After PSM, the hazard ratio (HR) for hypothyroidism in IBS patients was 1.21 (95% CI: 1.12-1.30, P < 0.001) in the UKB, and the odds ratio (OR) was 1.25 (95% CI: 1.23-1.27, P < 0.001) in the NIS. Subgroup analyses showed a higher risk for hypothyroidism in IBS patients, particularly those aged ≤65 years and females.</p><p><strong>Conclusions: </strong>IBS is associated with an increased risk of hypothyroidism. Clinicians should consider screening for thyroid dysfunction in IBS patients to improve patient outcomes.</p>","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":"e18715303390590"},"PeriodicalIF":2.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13284642/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145608036","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of the Relationship Between Early Estrogen Response and Cryptorchidism.","authors":"Dashuai Miao, Yifang Sun, Xiang Yu, Suyin Feng, Long Zhu, Xiao Tong, Wenliang Ge, Hua Li","doi":"10.2174/0118715303419738251111055407","DOIUrl":"10.2174/0118715303419738251111055407","url":null,"abstract":"<p><strong>Introduction: </strong>Cryptorchidism, a common congenital malformation in male newborns due to abnormal testicular descent, is closely linked to male infertility and germ cell tumors. The study suggested that estrogen response contributes to its occurrence.</p><p><strong>Methods: </strong>Data were collected from Gene Expression Omnibus (GEO). Enrichment scores were calculated by single-sample gene set enrichment analysis (GSEA), while pathway analysis was performed using GSEA. Key modules were identified through weighted gene co-expression network analysis (WGCNA), followed by the screening of differentially expressed genes (DEGs) using the limma package. The intersection genes were further screened by LASSO and Support Vector Machine-Recursive Feature Elimination (SVM-RFE). Potential transcription factors (TFs) were predicted using hTFtarget, and related microRNAs were analyzed using the Encori database. The TF regulatory network was visualized using Cytoscape 3.8.0.</p><p><strong>Results: </strong>Patients with cryptorchidism exhibited significantly higher early estrogen response scores compared to controls, with a notable enrichment of the early estrogen response pathway. This study identified 2 biomarkers, PRR15 and SRPX, which were both regulated by the TF SPI1. PRR15 gene expression was significantly related to early estrogen response. Additionally, these two biomarkers were primarily involved in cell division pathways; in particular, PRR15 was closely linked to progesterone-mediated oocyte maturation.</p><p><strong>Discussion: </strong>PRR15 and SRPX, which SPI1 potentially regulated, were identified as genes associated with early estrogen response in cryptorchidism and were enriched in estrogen-related and cell division pathways.</p><p><strong>Conclusion: </strong>This study provided translational insights, enhancing the current understanding of testicular pathogenesis and contributing to the diagnosis and treatment of cryptorchidism.</p>","PeriodicalId":94316,"journal":{"name":"Endocrine, metabolic & immune disorders drug targets","volume":" ","pages":"e18715303419738"},"PeriodicalIF":2.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13563426/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146047731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}