Neuroendocrinology最新文献

{"title":"Multicenter Retrospective Study of Efficacy of Systemic Therapy in Patients with Neuroendocrine Tumor Grade 3 (JOSC-2001).","authors":"Hiroyuki Okuyama, Taro Shibuki, Naohiro Okano, Takuro Mizukami, Hiroaki Yanagimoto, Mao Okada, Emiri Kita, Noritoshi Kobayashi, Satoshi Kobayashi, Takaaki Furukawa, Hiroyuki Asama, Hidetaka Tsumura, Ken Kamata, Kumiko Umemoto, Yasuo Hamamoto, Yuko Suzuki, Shigeru Horiguchi, Atsushi Naganuma, Akinori Asagi, Kunihiro Tsuji, Ryoji Takada, Kazuhito Kawata, Motohiro Kojima, Hiroshi Imaoka, Takeshi Terashima, Masato Ozaka, Makoto Ueno, Masafumi Ikeda","doi":"10.1159/000548614","DOIUrl":"10.1159/000548614","url":null,"abstract":"<p><strong>Background: </strong>Neuroendocrine tumor G3 (NET G3) is a new category introduced in the WHO 2017 classification. Accordingly, evidence regarding chemotherapy for NET G3 is limited. A multicenter, retrospective analysis was performed to evaluate the outcomes of systemic therapy for NET G3 and to identify the optimal regimens.</p><p><strong>Methods: </strong>Patient demographic and treatment outcome data were retrospectively collected for 73 patients with pathologically diagnosed NET G3 who started chemotherapy at participating institutions between January 2011 and December 2019, excluding those who were ineligible by central pathological review. The chemotherapy regimens used and their efficacies were evaluated.</p><p><strong>Results: </strong>Of the 73 patients, 47 had pancreatic NETs, 10 had gastrointestinal NETs, and 16 had NETs at other sites. Central pathological review was performed for 44 patients, with a concordance rate of 95%. Initial treatment regimens included NET-based treatment (somatostatin analogue, molecular-targeted agent, cytotoxic chemotherapy such as streptozocin and temozolomide) for 37 patients, NEC-based treatment (platinum-containing chemotherapy) for 32 patients, and other regimens for 2 patients. There were no significant differences in progression-free survival (PFS), or overall survival (OS) between patients receiving NET-based and NEC-based treatment, or among the individual treatment regimens. However, the response rate (RR) was higher for NET-based cytotoxic chemotherapy (50%) compared with NEC-based treatment (16%), suggesting greater efficacy of NET-based cytotoxic chemotherapy.</p><p><strong>Conclusions: </strong>Although no significant difference in PFS or OS was found among the chemotherapy regimens for NET G3, RR was notably higher for NET-based cytotoxic chemotherapy than for NEC-based treatment.</p>","PeriodicalId":19117,"journal":{"name":"Neuroendocrinology","volume":" ","pages":"1-22"},"PeriodicalIF":2.8,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145177065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gastrointestinal neuroendocrine neoplasms in children and adolescents - data from the German MET studies (1997-2024).","authors":"Katharina Karges, Marina Kunstreich, Michael Abele, Jörg Fuchs, Christian Vokuhl, Ines B Brecht, Dominik T Schneider, Michael C Frühwald, Peter Vorwerk, Constantin Lapa, Antje Redlich, Michaela Kuhlen","doi":"10.1159/000548618","DOIUrl":"https://doi.org/10.1159/000548618","url":null,"abstract":"<p><strong>Introduction: </strong>Gastrointestinal neuroendocrine neoplasms (GI-NENs) outside the appendix and pancreas are exceptionally rare in children and adolescents. Limited data on presentation, treatment, and outcomes hinder clinical decision-making.</p><p><strong>Methods: </strong>We retrospectively analyzed 16 patients under 18 years with histologically confirmed NENs of gastrointestinal origin, enrolled in the German Malignant Endocrine Tumor (MET) Registry from 1997 to 2024. Neuroendocrine carcinomas (NECs) were eligible for inclusion but were not observed. Findings were compared with a cohort (age 0-20 years) from the SEER database.</p><p><strong>Results: </strong>Median age at diagnosis was 15.4 years; 62.5% were male. Primary tumor sites included the stomach (43.8%), colorectum (18.8%), duodenum and Meckel´s diverticulum (12.5% each), and jejunum and omentum majus (6.3% each). Distant metastases were present in 31.3%, with no isolated lymph node involvement. was All tumors were well-differentiated NETs: G1 (43.8%), G2 (37.5%), and G3 (6.3%). Hereditary syndromes were confirmed in 18.8% and suspected in 12.5%. Somatostatin receptor 2 (SSTR2) expression was seen in most tested tumors. At 30.1 months median follow-up, 3-year overall survival (OS) and event-free survival (EFS) were 93.3% and 73.3%, respectively, both associated with tumor grade, stage, and resection. The SEER cohort (n = 83) primarily had rectal primaries, localized disease, and a 3-year OS was 95.2%.</p><p><strong>Conclusion: </strong>Pediatric GI-NENs may present with advanced disease but have favorable outcomes following resection. Given the rarity and complexity, close evaluation by multidisciplinary tumor boards at each treatment step is strongly recommended to support individualized care.</p>","PeriodicalId":19117,"journal":{"name":"Neuroendocrinology","volume":" ","pages":"1-21"},"PeriodicalIF":2.8,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145150221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Kisspeptin-dependent puberty onset triggered by increased Kiss1 and Pdyn expression in arcuate Tac3 neurons under reduced estrogen negative feedback and sufficient energy balance in female rats.","authors":"Mayuko Nagae, Sutisa Majarune, Takuma Kobayashi, Pelden Nima, Kei Horihata, Kenji Takase, Junya Hirata, Hisanori Matsui, Hirokazu Matsumoto, Naoko Inoue, Hiroko Tsukamura, Yoshihisa Uenoyama","doi":"10.1159/000548403","DOIUrl":"https://doi.org/10.1159/000548403","url":null,"abstract":"<p><strong>Introduction: </strong>The pre-pubertal quiescence of pulsatile gonadotropin-releasing hormone secretion in mammals is considered due to repressed Kiss1 (encoding kisspeptin) expression in kisspeptin/neurokinin B/dynorphin A (KNDy) neurons. In this study, we aimed to investigate the effects of negative feedback levels of estradiol-17β (low E2) and energy balance on Kiss1, Tac3 (encoding neurokinin B), and Pdyn (encoding dynorphin A) expression in ovariectomized (OVX) pre- and post-pubertal rats, and the effects of central kisspeptin immunoneutralization on puberty onset in ovary-intact rats.</p><p><strong>Methods: </strong>Kiss1, Tac3, and Pdyn expression in the hypothalamic arcuate nucleus was determined using in situ hybridization or quantitative RT-PCR. Vaginal opening and first estrus were examined as indices of puberty.</p><p><strong>Results: </strong>Low E2 markedly reduced the number of Kiss1-expressing cells in OVX pre-pubertal rats under normal diet and food-restricted conditions but had no effect in post-pubertal rats. The number of Pdyn-expressing cells was significantly lower in pre-pubertal rats than in post-pubertal rats under both dietary conditions. The numbers of Tac3-expressing cells remained elevated in all models. Furthermore, central infusion of anti-kisspeptin antibody significantly delayed puberty onset in female rats.</p><p><strong>Conclusion: </strong>These findings suggest that kisspeptin-dependent puberty onset in female rats is likely to be triggered by the coordinated upregulation of Kiss1 and Pdyn expression in KNDy neurons under conditions of reduced estrogen negative feedback and sufficient energy availability. In contrast, Tac3 likely plays a permissive role in puberty onset. Taken together, these results provide novel insights into how estrogen and metabolic signals converge in KNDy neurons to regulate puberty onset.</p>","PeriodicalId":19117,"journal":{"name":"Neuroendocrinology","volume":" ","pages":"1-21"},"PeriodicalIF":2.8,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145065332","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Expanded Targeted-Exome Sequencing and Functional Validation Improve Molecular Diagnosis and Refine Genotype-Phenotype Correlations in Congenital Hypogonadotropic Hypogonadism.","authors":"Jessica Silva Fausto, Lucas G A Ferreira, Silvia R Correa-Silva, Maria Izabel Chiamolera, Elisa Napolitano E Ferreira, Ilda Kunii, Magnus R Dias-da-Silva","doi":"10.1159/000548348","DOIUrl":"https://doi.org/10.1159/000548348","url":null,"abstract":"<p><strong>Introduction: </strong>Congenital Hypogonadotropic Hypogonadism (CHH) arises from defects in the synthesis, secretion, or action of gonadotropin-releasing hormone (GnRH), resulting in incomplete or absent pubertal development and various non-reproductive features. CHH is genetically heterogeneous, with over 50 genes implicated in its pathogenesis. This study aimed to elucidate the genetic variants of CHH in a cohort of patients from a single-center endocrinology unit.</p><p><strong>Methods: </strong>We used a targeted next-generation sequencing panel to analyze 52 CHH-related genes in 35 patients. Functional studies validated two of the identified variants.</p><p><strong>Results: </strong>Molecular etiology was identified in 20 of 35 patients (57%). Among these, 12 (39%) had variants in multiple CHH-related genes, with oligogenic inheritance confirmed in two cases. Novel pathogenic variants (both SNVs and CNVs) were identified, including ANOS1 p.Gln238* and c.318+2T>C, CHD7 p.Ser734Ilefs5 and p.Gln592Serfs16, FGFR1 p.Ala36Profs67, c.1663+5G>A, and p.Tyr210*, DMXL2 deletion (83.1 Kb), and SOX2 deletion (1.1 Mb). In total, 21 pathogenic or likely pathogenic variants across 15 CHH-related genes were detected, including ANOS1, CHD7, FGFR1, PROKR2, and others. A functional study confirmed the loss of function in the KISS1R p.Ala203Asp variant.</p><p><strong>Conclusion: </strong>Our findings demonstrate the utility of a NGS panel in diagnosing genetically complex conditions like CHH and underscore the role of oligogenic inheritance in its phenotypic diversity. The inclusion of genes previously associated with syndromic CHH forms such as CHARGE in the exome panel may highlight possible shared mechanisms with neurodevelopmental disorders, aiding early diagnosis, genetic counseling, and treatment.</p>","PeriodicalId":19117,"journal":{"name":"Neuroendocrinology","volume":" ","pages":"1-26"},"PeriodicalIF":2.8,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145030294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Circulating Tumor DNA Profiling Identifies Actionable Mutations as Prognostic Markers in Advanced Neuroendocrine Tumors.","authors":"Na Zhou, Guofeng Zhao, Yang Gao, Jiazhang Xing, Mingying Wu, Hongyan Ying, Mei Guan, Huanwen Wu, Lin Zhao, Chunmei Bai, Yuejuan Cheng","doi":"10.1159/000548256","DOIUrl":"10.1159/000548256","url":null,"abstract":"<p><strong>Introduction: </strong>Neuroendocrine tumors (NETs) are a rare and heterogeneous group of neoplasms with both clinical and genetic diversity. The clinical applicability of molecular profiling using liquid biopsy for identifying actionable drug targets and prognostic indicators in patients with advanced NETs remains unclear.</p><p><strong>Methods: </strong>In this study, we utilized a custom-made 37 genes panel of circulating tumor DNA (ctDNA) based on next-generation sequencing in 47 patients with advanced NETs.</p><p><strong>Results: </strong>A total of 223 non-synonymous mutations were identified, with the highest frequencies found in TSC2, JAG2, NOTCH3, KMT2C, and SETD2. NETs originating from the stomach exhibited the highest average mutation frequency, while paragangliomas had the lowest. TERT mutations were associated with significantly higher hazard ratios for both progression-free survival (PFS) and overall survival (OS). Higher blood tumor mutational burden (bTMB) was linked to poor prognosis in octreotide LAR-treated patients and correlated with higher Ki-67 levels and alterations in the TM, mTOR, and Notch pathways. Treatment responders had higher bTMB, chromatin remodeling signaling mutation burden, and maximum somatic allele frequency (MSAF). Patients with high MSAF demonstrated better PFS, whereas those with low MSAF had better OS. A strong positive correlation was observed between MSAF levels and mutational burden. Co-occurring mutations in the TM, mTOR, and NOTCH pathways suggested future therapeutic strategies.</p><p><strong>Conclusions: </strong>We constructed an overview of mutations in 37 genes, linking ctDNA to survival in advanced NETs. TERT mutations, bTMB, and MSAF predict PFS or OS. Co-occurring TM, mTOR, and NOTCH pathway alterations highlight ctDNA's potential in guiding precision medicine.</p>","PeriodicalId":19117,"journal":{"name":"Neuroendocrinology","volume":" ","pages":"1-14"},"PeriodicalIF":2.8,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145030217","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Causal Relationship between Plasma Liposomes and Autoimmune Thyroid Disease: A Mendelian Randomization Study.","authors":"Zhao Sun, Yanning Li, Minghui Zhao, Yihan Lou, Yongjun Li, Lei Hua, Lanjuan Huang","doi":"10.1159/000548284","DOIUrl":"10.1159/000548284","url":null,"abstract":"<p><strong>Background: </strong>Autoimmune thyroid disease is an autoimmune disease. Observational studies have shown that individuals with thyroid dysfunction have dyslipidaemia. However, it is uncertain whether there is a causal relationship between the two. Therefore, the purpose of this study was to evaluate the causal relationship between plasma liposomes and autoimmune thyroid disease, thereby providing new insights into disease mechanisms and potential therapeutic targets.</p><p><strong>Method: </strong>We used two-sample Mendelian randomization (MR) to elucidate the causal relationship between plasma liposomes and autoimmune thyroid disease. We divide autoimmune thyroid disease into three types: autoimmune hyperthyroidism, autoimmune hypothyroidism, and autoimmune thyroiditis. The IVW method is the main analysis method, and Cochran Q test is used. MR-Egger intercept, leave-one-out test, and other tests are used to explore whether there are heterogeneity and pleiotropy in MR results.</p><p><strong>Result: </strong>MR analysis revealed causal relationships between eight plasma lipoproteins and autoimmune hyperthyroidism. Eleven causal relationships were identified between plasma lipoproteins and autoimmune hypothyroidism, including cholesterol ester (27:1/16:0) and cholesterol ester (27:1/18:2). Sixteen plasma lipoproteins have been confirmed to have causal relationships with autoimmune thyroiditis, including cholesterol ester (27:1/20:3) and sphingosine (d40:2) levels, which are associated with an increased risk of autoimmune thyroiditis, while phosphatidylethanolamine (18:2:0:0) levels are associated with a reduced risk of autoimmune thyroiditis. A series of sensitivity tests also confirmed the reliability of the results.</p><p><strong>Conclusion: </strong>According to this MR study, an established study, there is a causal relationship between plasma liposomes and autoimmune thyroid disease, which provides fresh insights into the potential mechanisms of autoimmune thyroid disease that may contribute to the development, prevention, and treatment of autoimmune thyroid disease.</p>","PeriodicalId":19117,"journal":{"name":"Neuroendocrinology","volume":" ","pages":"1-11"},"PeriodicalIF":2.8,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144962509","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Real-World Patient Outcomes on the Efficacy of Lanreotide Treatment for Neuroendocrine Tumors: The Influence of Body Mass Index, Body Surface Area, and Renal Function.","authors":"Ilse de Weert, Mirjam Crul, Heinz-Josef Klümpen, Tim Schutte","doi":"10.1159/000548257","DOIUrl":"10.1159/000548257","url":null,"abstract":"<p><strong>Introduction: </strong>Lanreotide is an effective and safe first-line therapy to treat patients with a gastroenteropancreatic (GEP) neuroendocrine tumor (NET). Precision oncology may be used to provide each patient with the right dosage. Pharmacokinetic data suggest lower exposure in higher weight patients. However, no recommendations for dose individualization in specific patient groups exist. Therefore, we aimed to investigate the association of body mass index (BMI), body surface area (BSA), and renal function on the efficacy and toxicity of lanreotide treatment for NETs.</p><p><strong>Methods: </strong>GEP-NET patients on lanreotide treatment at Amsterdam UMC from 2016 to 2022 were included. Outcome measures were primarily PFS and secondarily OS and toxicity. Kaplan-Meier analyses and Cox's proportional hazard models were used to calculate median PFS/OS and compare subgroups based on BMI, BSA, and renal function.</p><p><strong>Results: </strong>A total of 122 patients with NETs of diverse origin, functionality, and grade were included with a median PFS of 28 months (95% CI, 19.3-36.7). The median OS was not reached. No statistically significant difference in PFS among BMI subgroups was observed, although obese patients had the longest PFS (52 months, 95% CI, 27.4-76.7) compared to other BMI categories. No relation between BSA/renal function and PFS or toxicity was found.</p><p><strong>Conclusion: </strong>This large real-world data cohort of NET patients treated with lanreotide found no association of BMI, BSA, or renal function with PFS. Dose individualization of lanreotide treatment based on the patient characteristics BMI, BSA, or renal function does not seem rational based on these findings.</p>","PeriodicalId":19117,"journal":{"name":"Neuroendocrinology","volume":" ","pages":"1-12"},"PeriodicalIF":2.8,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144962516","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Causal Role of Gut Microbiota and Immune Cell Mediation in Gastroenteropancreatic Neuroendocrine Neoplasms: A Mendelian Randomization Study.","authors":"Zhichen Jiang, Pengcheng Ma, Fangxia Wang, Yuanyu Wang, Chao Lu, Qicong Zhu, Huizheng Lu, Jingtao Chen, Mingyang Liu, Yiping Mou, Weiwei Jin","doi":"10.1159/000547998","DOIUrl":"10.1159/000547998","url":null,"abstract":"<p><strong>Introduction: </strong>Gastroenteropancreatic neuroendocrine neoplasms (GEP-NENs) are a diverse group of tumors arising from neuroendocrine cells, often characterized by slow growth and subtle symptoms, leading to advanced-stage diagnoses. The gut microbiota (GM) has been implicated in various gastrointestinal malignancies, but its relationship with GEP-NENs remains unclear.</p><p><strong>Methods: </strong>A two-sample MR analysis was employed using genome-wide association study data to explore causal associations between GM and GEP-NENs. Genetic variants significantly associated with GM traits were selected as instrumental variables. Forward MR analysis identified significant GM traits associated with GEP-NENs, followed by reverse analysis to exclude reverse causation. Bayesian-weighted Mendelian randomization was employed for verification. Mediation analysis was conducted using a two-step approach to evaluate the mediating role of immune cell traits in these causal relationships. Sensitivity analyses, including heterogeneity and pleiotropy tests, were conducted to ensure the robustness of the findings.</p><p><strong>Results: </strong>Our analysis identified significant causal associations between 45 GM traits and GEP-NENs, involving 25 bacterial taxa and 20 metabolic pathways. Specifically, s_Paraprevotella_xylaniphila showed the strongest association with pancreatic NEN (OR: 0.473, p: 0.005); metabolic pathway PWY.6588 (pyruvate fermentation to acetone) exhibited the strongest association with gastric NEN (OR: 2.706, p: 0.003); pathway PWY0.845 (super pathway of pyridoxal 5'-phosphate biosynthesis and salvage) had the strongest association with small intestine NEN (SI-NEN, OR: 1.898, p: 0.001); and g_Roseburia displayed the strongest association with colorectal NEN (OR: 0.504, p: 0.007). Furthermore, mediation analyses revealed that specific immune cell traits significantly mediated these associations, with CD3- lymphocyte absolute count showing a notable mediation effect (12.187%, p: 0.019) between g_Clostridium and G-NEN, highlighting the crucial role of immune modulation in GEP-NEN pathogenesis.</p><p><strong>Conclusions: </strong>Our MR analysis provides robust causal evidence that specific GM taxa significantly influence the risk of GEP-NENs, and that this effect is partially mediated through discrete subsets of circulating immune cells. These findings underscore the GM-immune axis as a novel preventive and therapeutic target in GEP-NENs.</p>","PeriodicalId":19117,"journal":{"name":"Neuroendocrinology","volume":" ","pages":"1-12"},"PeriodicalIF":2.8,"publicationDate":"2025-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144962583","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Epidemiology and Health Impacts of Neuroendocrine Tumours.","authors":"John Ramage, Raj Srirajaskanthan","doi":"10.1159/000547728","DOIUrl":"10.1159/000547728","url":null,"abstract":"","PeriodicalId":19117,"journal":{"name":"Neuroendocrinology","volume":" ","pages":"1-3"},"PeriodicalIF":2.8,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144775873","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Steroids and One-Carbon Metabolism: Clinical Implications in Endocrine Disorders.","authors":"Nicolas Scheyer, Rosa-Maria Guéant-Rodriguez, Mikaël Agopiantz, Brigitte Leininger-Muller","doi":"10.1159/000547151","DOIUrl":"10.1159/000547151","url":null,"abstract":"<p><strong>Background: </strong>One-carbon metabolism (OCM) and steroid metabolism are fundamental biochemical pathways that regulate essential cellular processes and physiological functions. OCM is involved in DNA synthesis, methylation, and redox balance, while steroid metabolism governs the production and degradation of steroid hormones, which notably influence growth, reproduction, and stress responses. Despite their distinct roles, emerging evidence suggests a strong interplay between these two pathways.</p><p><strong>Summary: </strong>This review examines the bidirectional relationship between OCM and steroid metabolism, emphasizing their shared intermediates and cofactors. Folates and methionine, key intermediates of OCM, influence steroid biosynthesis, while the methylation status regulated by OCM affects the expression of steroidogenic enzymes. Conversely, steroid hormones modulate OCM by altering the activity of enzymes in folates and methionine cycles. Disruptions in either pathway are linked to diseases such as cancer, cardiovascular disorders, and neurodegenerative conditions. This narrative review examines the clinical and preclinical data on the interactions between OCM and sex steroids, in both women and men, adrenal steroids and vitamin D metabolism.</p><p><strong>Key messages: </strong>The interdependence between OCM and steroid metabolism highlights the need to consider both pathways in disease pathogenesis and therapeutic strategies. Their crosstalk plays a crucial role in maintaining cellular homeostasis and responding to metabolic stress. Targeting this metabolic interplay offers new opportunities for treating metabolic disorders, with potential clinical applications in modulating one pathway to influence the other for more integrated disease management.</p>","PeriodicalId":19117,"journal":{"name":"Neuroendocrinology","volume":" ","pages":"1-28"},"PeriodicalIF":2.8,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144584279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}