Journal of Endocrinological Investigation最新文献

{"title":"Beyond MRI: Unveiling metabolic signatures of primary hypophysitis with ¹⁸F-FDG PET.","authors":"Serdar Sahin, Betul Banu Kocaman, Mehmet Ufuk Yanmaz, Said Erkam Biyikoglu, Ozge Polat Korkmaz, Emre Durcan, Sertac Asa, Haluk Burcak Sayman, Hande Mefkure Ozkaya, Necmettin Tanriover, Pinar Kadioglu","doi":"10.1007/s40618-026-02907-2","DOIUrl":"10.1007/s40618-026-02907-2","url":null,"abstract":"<p><strong>Aims: </strong>Hypophysitis is a heterogeneous clinical entity originating from different anatomical compartments of the pituitary gland and driven by diverse pathophysiological mechanisms. This study aims to explore the potential diagnostic and clinical value of ¹⁸F-fluorodeoxyglucose positron emission tomography in the evaluation of primary hypophysitis.</p><p><strong>Materials and methods: </strong>This single-center retrospective study was conducted at the pituitary referral unit of a tertiary university hospital. The study population included patients with primary hypophysitis, individuals with nonfunctioning pituitary adenomas, and subjects without intracranial pathology. Demographic features, baseline clinical and biochemical characteristics, as well as initial cranial and sellar magnetic resonance imaging and ¹⁸F-fluorodeoxyglucose positron emission tomography findings, were systematically analyzed and compared across groups. Furthermore, in the primary hypophysitis subgroup, potential associations between positron emission tomography imaging parameters and clinical, radiological, and laboratory characteristics were specifically examined.</p><p><strong>Results: </strong>A total of 46 participants were enrolled in the study, comprising 16 patients with primary hypophysitis, nine with nonfunctioning pituitary adenoma, and 21 controls without intracranial pathology. Positron emission tomography demonstrated significantly higher maximum and mean standardized uptake values in patients with primary hypophysitis compared with controls, whereas no significant differences were observed between the other groups. Within the primary hypophysitis cohort, mean standardized uptake values were significantly elevated in patients with hypopituitarism and in those with Arginine vasopressin deficiency (central diabetes insipidus) compared to their respective counterparts without these conditions. Furthermore, both maximum and mean standardized uptake values were markedly higher in patients with growth hormone deficiency than in those with preserved growth hormone function.</p><p><strong>Conclusion: </strong>These findings suggest that metabolic activity observed on ¹⁸F-fluorodeoxyglucose positron emission tomography may serve as a marker of disease severity and pituitary dysfunction in primary hypophysitis.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"2267-2276"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13498648/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147989594","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Exploring the dynamics of FGF23 in patients with Hereditary Hemochromatosis type I following iron depletive treatment: a pilot study.","authors":"Luciano Colangelo, Sergio Terracina, Chiara Sonato, Viviana De Martino, Giancarlo Ferrazza, Enrico Panzini, Daniele Diacinti, Luciano Nieddu, Francesca Arienzo, Marco Occhiuto, Cristiana Cipriani, Stefania Trasarti, Antonio Angeloni, Jessica Pepe, Alessandro Corsi, Salvatore Minisola","doi":"10.1007/s40618-026-02893-5","DOIUrl":"10.1007/s40618-026-02893-5","url":null,"abstract":"<p><strong>Purpose: </strong>Anemia, inflammation and iron deficiency are linked to Fibroblast growth factor 23 (FGF23). Aim of this study was to explore the dynamics of FGF23 in Hereditary Hemochromatosis type-I (HH1).</p><p><strong>Methods: </strong>Twenty-six consecutive patients with genetically confirmed and uncomplicated HH1 and nineteen healthy age-matched voluntary blood donors (CTR) were enrolled for the study. Intact (iFGF23) and C-terminal (cFGF23) FGF23 and iron status markers were evaluated at baseline (T0) and seven days (T7) after phlebotomy/voluntary blood donation (VBD). Bone mineral density (BMD) and vertebral fracture assessment (VFA) were also evaluated at T0.</p><p><strong>Results: </strong>Cross-sectional and longitudinal analyses failed to reveal significant differences in iFGF23 in both HH1 (T0: 54.27 ± 14.42 pg/mL; T7: 54.70 ± 15.48 pg/mL) and CTR (T0: 52.77 ± 17.63 pg/mL; T7: 53.27 ± 15.88 pg/mL) groups. Absence of significant difference was also observed for cFGF23 at baseline between the two groups (HH1, T0: 0.98 ± 0.39 pmol/L; CTR, T0: 1.18 ± 0.91 pmol/L) but not at T7 when the values (HH1, T7: 01.20 ± 0.89; CTR, T7: 1.84 ± 1.11 pmol/L) were significantly increased in CTR compared to T0 (p = 0.0003) and to HH1 (p = 0.0240). After phlebotomy/VBD, in both HH1 and CTR groups, serum levels of phosphate were unchanged from baseline while serum iron, ferritin and transferrin saturation and erythrocyte-related parameters (red blood cells, hemoglobin and hematocrit) were significantly reduced (all p  <  0.0001). Serum iron, ferritin, and transferrin saturation were significantly higher in HH1 than in CTR (p = 0.0002 for serum iron and p  <  0.0001 for both ferritin and transferrin saturation) at T7. In the CTR group, these parameters showed a trend toward iron deficiency whereas in HH1 they remained near the upper limit of the normal range, suggesting a persistent mild iron overload. Correlation and regression analyses did not show significant associations between circulating FGF23 (both iFGF23 and cFGF23) and iron status markers. BMD and VFA were not significantly different between HH1 and CTR. Furthermore, BMD and Trabecular Bone Score values were not associated with circulating FGF23 levels.</p><p><strong>Conclusion: </strong>This pilot study indicates that the serum levels of iFGF23 and cFGF23 and skeletal health evaluated through BMD and VFA do not differ between patients with uncomplicated HH1 and healthy subjects at baseline. The absence of changes in the serum levels of iFGF23 and cFGF23 in HH1 patients with uncomplicated HH1 after phlebotomy may reflect the persistence of iron overload which could counteract the physiological hypoxia-driven stimulation of FGF23 production and cleavage observed in healthy subjects after VBD.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"2439-2448"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13498640/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148035810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Oral polychemotherapy to induce remission in newly diagnosed type 2 diabetes: results from a randomized controlled trial.","authors":"Alessandra Dei Cas, Raffaella Aldigeri, Giuseppe Maglietta, Emanuela Balestreri, Monia Garofolo, Giuseppe Daniele, Giuseppe Penno, Maddalena Trombetta, Alessandro Csermely, Monica Antonini, Angela Vazzana, Valentina Moretti, Sara Flamigni, Valentina Spigoni, Gloria Cinquegrani, Federica Fantuzzi, Marcello Monesi, Paolo Di Bartolo, Uberto Pagotto, Caterina Caminiti, Riccardo C Bonadonna","doi":"10.1007/s40618-026-02930-3","DOIUrl":"10.1007/s40618-026-02930-3","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the efficacy of a four-drug regimen (POLYCHEM) vs. standard diabetes care (SDC) in inducing remission in patients with newly diagnosed type 2 diabetes.</p><p><strong>Methods: </strong>A multicenter, open-label, pragmatic, phase III, randomized clinical trial (NCT04271189) was conducted in 6 Italian Diabetes Outpatient Clinics. Patients were randomized (visit 1) to receive POLYCHEM or SDC for 16 weeks, after which, if there was regression of diabetic hyperglycemia (visit 2), drug therapy was suspended. The primary endpoint was remission (HbA1c < 6.5%; 48 mmol/mol) assessed at least 12 weeks (visit 3) after ceasing any glucose-lowering pharmacotherapy.</p><p><strong>Results: </strong>108 patients (80% males, age: 58 ± 9 yrs), were enrolled in the study, of whom 60 were randomized to POLYCHEM and 48 to SDC treatment. After 16 weeks, 54 (90.0%) and 37 (77.1%) patients achieved regression of diabetic hyperglycemia in the POLYCHEM and SDC arm, respectively (p = 0.002). At visit 3, 23 (38.3%) and 21 (43.8%) patients achieved diabetes remission in the POLYCHEM and SDC arm, respectively (p = 0.59). The difference between the upper 95% CI in POLYCHEM (50.9%) and the lower 95% CI in SDC (30.4%) of diabetes remission was 20.5%.</p><p><strong>Conclusion: </strong>A four-drug regimen with minimal to null weight-lowering effect is not superior to current SDC in achieving remission in patients with newly diagnosed type 2 diabetes. If a superiority of POLYCHEM over SDC exists, it is expected to be ≤ 20.5%.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"2521-2531"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13498524/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148594268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gender differences in long-term complications of chronic hypoparathyroidism: a systematic review.","authors":"Filomena Cetani, Laura Pierotti, Ilaria Bodini, Claudia Bongermino, Serena Cagnina, Silvia Carrara, Veronica De Michelis, Laura Gianotti, Alessia Pusterla, Sabrina Corbetta","doi":"10.1007/s40618-026-02879-3","DOIUrl":"10.1007/s40618-026-02879-3","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"2135-2148"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147786611","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":"Leucine supplementation modulates body composition and early weight rebound during GLP-1 receptor agonist therapy in diet-induced obese mice.","authors":"Ze-Wei Zhao","doi":"10.1007/s40618-026-02896-2","DOIUrl":"10.1007/s40618-026-02896-2","url":null,"abstract":"<p><strong>Purpose: </strong>GLP-1 receptor agonists (GLP-1RAs) like semaglutide are effective for obesity treatment but may cause lean mass loss and post-discontinuation weight rebound. This study aimed to explore whether leucine supplementation alone or combined with semaglutide optimizes body composition in diet-induced obese (DIO) mice.</p><p><strong>Methods: </strong>Male C57BL/6J mice were fed a high-fat diet for 12 weeks to induce obesity. Obese mice were then treated for 14 days with daily subcutaneous injections of semaglutide (120 µg/kg) or vehicle, along with either 1.5% leucine in drinking water or control water, and received the muscle-targeted mTORC1 inhibitor MTP-mTORC1i (1.5 mg/kg) or vehicle three times per week. Body weight, food intake, and body composition (assessed by EchoMRI) were monitored throughout this period. Following semaglutide withdrawal, leucine supplementation and MTP-mTORC1i administration were continued to evaluate their effects on weight rebound.</p><p><strong>Results: </strong>Semaglutide combined with leucine induced greater fat mass loss and higher lean mass retention compared to semaglutide alone, without further suppressing appetite. Following semaglutide discontinuation, leucine supplementation significantly attenuated weight rebound, reduced fat rebound, and preserved lean mass. These beneficial effects were completely abrogated upon mTORC1 inhibition, underscoring the critical dependence on this signaling pathway.</p><p><strong>Conclusions: </strong>Leucine supplementation may refine GLP-1RA-induced weight loss by favoring fat reduction and preserving lean mass, and could potentially alleviate post-discontinuation weight rebound through muscle mTORC1 activation. Given the relatively short 14-day intervention and limited post-withdrawal follow-up period, these findings should be regarded as preliminary. Leucine may represent a promising adjuvant strategy to improve obesity management, pending validation in longer-term clinical investigations.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"2477-2484"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147724372","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":"Cyclic Cushing syndrome as a clinical enigma and diagnostic dilemma in advanced endocrinology.","authors":"Yeva Ilkiv, Kateryna Potapova, Viktoriia Yerokhovych, Nazarii Kobyliak","doi":"10.1007/s40618-026-02910-7","DOIUrl":"10.1007/s40618-026-02910-7","url":null,"abstract":"<p><p>Cyclic Cushing's syndrome (CCS), a rare and atypical form of endogenous hypercortisolism, remains a very relevant problem from a diagnostic point of view. To confirm this disease, it is necessary to record two episodes of hypercortisolism alternating with period of normocortisolism. Intercyclic phase is characterized not only by negative laboratory test results but also by the absence of pronounced symptoms, making the pathology hidden and, presumably, undiagnosed in certain cases. Some causes remain undetermined and require further investigation. The process of diagnosing and verifying CCS is often lengthy and requires repeated testing at certain intervals. However, none of the currently available methods are 100% accurate. Therefore, a step-by-step approach with confirmation by several highly sensitive tests is recommended for the differential diagnosis of ACTH-dependent and ACTH-independent cyclic hypercortisolism. The risk of false results cannot be ruled out even when the most reliable methods available today are used. Thus, the diagnostic algorithm for each individual case will be specific and will depend on the phase of the disease, the patient's condition, and concomitant pathology. Our review summarizes current data on the mechanisms of cyclic hypercortisolism known to date and provides a comparative and critical analysis of modern diagnostic methods that help identify this pathology and indicate its origin.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"2219-2228"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147989659","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":"Global prevalence of genetic carriers for ARMC5- and KDM1A-associated primary bilateral macronodular adrenal hyperplasia: insights from a large multiethnic genomic database.","authors":"Nipith Charoenngam, Taweesak Wannachalee","doi":"10.1007/s40618-026-02920-5","DOIUrl":"10.1007/s40618-026-02920-5","url":null,"abstract":"<p><strong>Purpose: </strong>To estimate the global prevalence of genetic carriers of primary bilateral macronodular adrenal hyperplasia (PBMAH)-associated variants in ARMC5 and KDM1A using a large genomic database.</p><p><strong>Methods: </strong>We analyzed sequencing data from 807,162 unrelated individuals in gnomAD v4.1. Two prespecified variant-selection strategies were applied. Strict criteria included ARMC5 and KDM1A variants classified as pathogenic/likely pathogenic (P/LP) in ClinVar/LOVD and germline P/LP variants reported in the literature. Liberal criteria included all strict variants plus rare predicted deleterious variants (nonsense, frameshift, loss of start codon and splice-disrupting variants predicted to be deleterious by in silico analysis) and PBMAH-reported somatic ARMC5 variants from the literature as candidate germline susceptibility alleles. Carrier prevalence was estimated by aggregating allele frequencies of qualifying variants overall and by ancestry.</p><p><strong>Results: </strong>For ARMC5, estimated carrier prevalence was 37.5/100,000 under strict criteria and 64.1/100,000 under liberal criteria. Prevalence varied by ancestry, highest in East Asian individuals (strict: 111.4/100,000; liberal: 173.7/100,000) and lowest in Middle Eastern (strict: 0; liberal: 33.0/100,000) and Ashkenazi Jewish groups (strict: 6.8; liberal: 27.0/100,000). For KDM1A, only three variants met strict criteria; liberal criteria yielded an estimated carrier prevalence of 33.8/100,000, highest in Middle Eastern (66.0/100,000) and lowest in Finnish (6.2/100,000). Several variants were enriched in specific ancestries (e.g., ARMC5 p.Arg454Trp in East Asians; ARMC5 p.Arg879Trp and KDM1A p.Arg196AsnfsTer6 in non-Finnish Europeans).</p><p><strong>Conclusion: </strong>Population-scale data suggest PBMAH genetic susceptibility due to ARMC5 and KDM1A variants may be more common than implied by clinical series and differs across ancestries, underscoring the need for improved variant curation and phenotype-linked studies.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"2291-2303"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13498619/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147989611","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A rare example of a sculpture from the Gallo-Roman era representing a goiter.","authors":"Luigi Massimino Sena","doi":"10.1007/s40618-026-02842-2","DOIUrl":"10.1007/s40618-026-02842-2","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"2579-2580"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147311402","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":"Microvascular complications and risk of osteoporosis and fractures in type 2 diabetes: a nationwide Asian cohort study.","authors":"Yu-Hsin Yen, James Cheng-Chung Wei, Fu-Shun Ko, Fu-Shun Yen, Heng-Jun Lin, Pei-Yun Li, Der-Yang Cho, Chii-Min Hwu, Chih-Cheng Hsu","doi":"10.1007/s40618-026-02894-4","DOIUrl":"10.1007/s40618-026-02894-4","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"2449-2460"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13498650/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147724422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Synergic effect of diet and polysaccharide-based complex administration in the treatment of children and adolescents with metabolically unhealthy obesity: the Polymets Study.","authors":"Giulia Fiore, Asli Altayeva, Simona Panelli, Diego De Zan, Lodovico Sterzi, Valeria Calcaterra, Martina Tosi, Franco Folli, Gianvincenzo Zuccotti, Francesco Comandatore, Elvira Verduci","doi":"10.1007/s40618-026-02860-0","DOIUrl":"10.1007/s40618-026-02860-0","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"2461-2475"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13498496/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147460823","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}