Journal of Endocrinological Investigation最新文献

{"title":"Sweeteners and puberty: investigating genetic and dietary influences on central precocious puberty.","authors":"Yuan-Jen Tsai, Chia-Min Kuo, Jhih-Wei Hsu, Chun-Chang Chen, Chien-Ming Lin, Ying-Chuan Chen, Yang-Ching Chen","doi":"10.1007/s40618-025-02677-3","DOIUrl":"https://doi.org/10.1007/s40618-025-02677-3","url":null,"abstract":"<p><p>Central precocious puberty (CPP) is characterized by the early onset of secondary sexual characteristics caused by premature activation of the hypothalamic-pituitary-gonadal axis. CPP can result in short stature, reproductive health complications, and psychosocial challenges. The rising prevalence of CPP underscores the urgency of investigating the genetic and dietary factors that influence its development to reduce long-term health and developmental effects. CPP was diagnosed in 481 participants. Aspartame, sucralose, glycyrrhizin, and added sugars were significantly linked to increased CPP risk, particularly in genetically predisposed individuals. A dose-dependent relationship was also identified, with higher sweetener intake associated with a greater risk of CPP. Gender-specific effects were also discovered, with sucralose being strongly associated with CPP in boys and glycyrrhizin, sucralose, and added sugar all being strongly associated with CPP in girls. The effects of the interaction between genetic predisposition and sweetener intake on this risk were non-significant. Sweetener consumption and high genetic predisposition independently increase the risk of CPP. Therefore, combining genetic and dietary assessments can guide prevention strategies for at-risk children, reducing the long-term health effects of early puberty.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144800688","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 goitrous sponge-bearer in Francesco Bianchi Ferrari's Pala delle Tre Croci (c. 1495).","authors":"Maria Emilia Paladino, Michele Augusto Riva","doi":"10.1007/s40618-025-02681-7","DOIUrl":"https://doi.org/10.1007/s40618-025-02681-7","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144795813","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 genetic polymorphism of XPR1 associated with Fanconi syndrome in Chinese patients with X-linked hypophosphatemia.","authors":"Sirui Han, Xiang Li, Wei Liu, Yue Chi, Ruizhi Jiajue, Ziyao Fu, Qianqian Pang, Ou Wang, Mei Li, Xiaoping Xing, Yan Jiang, Weibo Xia","doi":"10.1007/s40618-025-02678-2","DOIUrl":"https://doi.org/10.1007/s40618-025-02678-2","url":null,"abstract":"<p><strong>Purpose: </strong>X-linked hypophosphatemia (XLH) is the most common type of hereditary hypophosphatemic rickets caused by elevated fibroblast growth factor 23 (FGF23). Multiple cases have reported XLH had Fanconi syndrome (FS) with unidentified mechanism. We investigated the association between genetic polymorphisms of phosphate transporters in renal proximal tubules and XLH with FS for the first time.</p><p><strong>Methods: </strong>25 Chinese XLH patients with FS (XLH-FS) and 33 patients without any urine abnormalities (XLH-nonFS) were included. We collected their clinical manifestations and laboratory results, screened the single-nucleotide polymorphisms (SNPs) of XPR1, SLC34A1 and SLC34A3 by a next generation sequencing-based method, and analyzed the correlation between SNPs and XLH with FS. Computational predictions identified microRNAs (miRNAs) targeting SNPs that influenced susceptibility of FS, and confirmed their interaction and impact on gene expression by a dual-luciferase reporter system.</p><p><strong>Results: </strong>XLH-FS group had a higher proportion of trouble walking (88.0% vs 51.5%, p = 0.003). Among the 17 SNPs, rs10494535 located within 3'-UTR region of XPR1 showed significant difference between the two groups. TT/CT genotype and T allele increased susceptibility of FS. Lower luciferase activities were observed in dual-luciferase reporter gene assay as rs10494535 T allele and rs148196667 C allele binding with miRNAs respectively, which implied decreases in XPR1 expression.</p><p><strong>Conclusion: </strong>XLH with FS had greater mobility difficulties. The genetic polymorphism of XPR1 was associated with FS in XLH patients. Susceptibility of FS in XLH patients was possibly related to the decrease expression of XPR1 due to the interaction between SNPs and miRNAs.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144790481","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":"Age-dependent bone mineral density responses to gender-affirming hormone therapy in transgender individuals: a one-year prospective study.","authors":"Chiara Ceolin, Martina Dall'Agnol, Giulia Termini, Mario Virgilio Papa, Giulia Casali, Anna Bertocco, Alberto Scala, Sandro Giannini, Alberto Ferlin, Giuseppe Sergi, Andrea Garolla, Marina De Rui","doi":"10.1007/s40618-025-02675-5","DOIUrl":"https://doi.org/10.1007/s40618-025-02675-5","url":null,"abstract":"<p><strong>Purpose: </strong>Evidence on the skeletal effects of gender-affirming hormone therapy (GAHT) in transgender individuals remains limited, especially across age groups. Individuals assigned male at birth (AMAB) often show reduced bone mineral density (BMD) even before GAHT, whereas findings in those assigned female at birth (AFAB) are more variable. Given the key role of adolescence and early adulthood in peak bone mass, timely skeletal assessment is essential. This study compared BMD before and after one year (1-y) of GAHT to age-matched cisgender controls.</p><p><strong>Methods: </strong>Prospective observational study involving 269 adults (162 transgender and 107 cisgender controls) conducted at the University Hospital of Padua (January 2020-November 2024). Dual-energy X-ray absorptiometry (DXA) was performed at baseline and after 1-y of GAHT.</p><p><strong>Results: </strong>After 1-y of GAHT, in AMAB individuals, lumbar spine BMD significantly increased (from 0.97 ± 0.16 to 1.02 ± 0.14 g/cm², p < 0.001), particularly in those under 20 years. AFAB individuals experienced a modest but significant reduction in femoral neck BMD (from 0.81 ± 0.12 to 0.79 ± 0.13, p < 0.05), especially in the 20-30-year age group. Age-stratified analyses revealed that younger participants showed greater BMD improvements, while those over 20 exhibited stable or declining values. Linear regression confirmed age as an independent predictor of BMD change, with older age associated with reduced skeletal responsiveness to GAHT at key femoral sites.</p><p><strong>Conclusions: </strong>GAHT has variable effects on bone health, influenced by age and sex assigned at birth. Early initiation may favor bone accrual, especially in AMAB individuals, while AFAB individuals may require closer monitoring for site-specific bone loss during testosterone therapy.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-08-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144785720","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":"Integrated analysis of proteomics and metabolomics reveals interactions of energy metabolism and reproduction in hypothalamus of chicken during sexual maturation.","authors":"Lingqian Yin, Donghao Zhang, Zhongzhen Lin, Chunlin Yu, Jingjing Li, Feng Xu, Yan Wang, Chaowu Yang, Yiping Liu","doi":"10.1007/s40618-025-02676-4","DOIUrl":"https://doi.org/10.1007/s40618-025-02676-4","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-08-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144769208","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":"Temporal trends in serum testosterone and luteinizing hormone levels indicate an ongoing resetting of hypothalamic-pituitary-gonadal function in healthy men: a systematic review.","authors":"Daniele Santi, Giorgia Spaggiari, Chiara Furini, Valentina Griseta, Eric A Zizzi, Antonio R M Granata, Manuela Simoni","doi":"10.1007/s40618-025-02671-9","DOIUrl":"https://doi.org/10.1007/s40618-025-02671-9","url":null,"abstract":"<p><strong>Purpose: </strong>Male fertility is progressively impairing over time, probably related to a multifactorial genesis. The aim of the study was the evaluation if a Temporal trend in serum testosterone levels exists in healthy men.</p><p><strong>Methods: </strong>A search of the literature between 1971 and July 2024 was performed, selecting study groups in which testosterone serum levels were measured for any reason in healthy men. Exclusion criteria were: (i) age < 18 years old, (ii) conditions affecting testosterone levels, (iii) subjects' enrolment based on testosterone serum levels and (iv) blood examinations performed in a time-frame interval > 10 years. Secondary endpoints: luteinising hormone (LH), follicle-stimulating hormone (FSH), sex hormone binding globulin (SHBG) serum levels and body mass index (BMI).</p><p><strong>Results: </strong>1,256 papers, accounting for 1,504 study groups, were selected, including 1,064,891 subjects (age 42.0 ± 7.0 years). A significant negative linear regression between testosterone serum levels and year of measurement was detected (p = 0.033). The comprehensive decline in testosterone serum levels over the years was confirmed adjusting meta-regression analysis using the number of subjects included in each study, subjects' age, BMI and the the assay used for testosterone measurement. No temporal trend was observed regarding BMI in this population. LH serum levels showed a significant decline over the years, adjusting for subjects' age, while no trend emerged considering FSH.</p><p><strong>Conclusion: </strong>This study is the first comprehensive analysis suggesting a progressive decrease in serum testosterone and LH levels in healthy men, independent of age and BMI. The observed decline in both testosterone and LH levels could be a consequence of an ongoing resetting of the hypothalamic-pituitary-testicular function.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144762049","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":"Correction: Thymic hyperplasia is accurate to detect new-onset Graves' hyperthyroidism and resolves after restoring euthyroidism.","authors":"L Scappaticcio, P Caruso, N Di Martino, P Ferrazzano, A Clemente, M I Maiorino, A Reginelli, G Docimo, P F Rambaldi, G Bellastella, P Trimboli, S Cappabianca, K Esposito","doi":"10.1007/s40618-025-02573-w","DOIUrl":"10.1007/s40618-025-02573-w","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"1921"},"PeriodicalIF":3.5,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12313773/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143711695","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":"Tryptophan metabolites exert potential therapeutic activity in graves' orbitopathy by ameliorating orbital fibroblasts inflammation and proliferation.","authors":"Weili Yang, Xinyu Xu, Rongrong Xie, Jiaqi Lin, Zhijia Hou, Zhong Xin, Xi Cao, Tingting Shi","doi":"10.1007/s40618-025-02593-6","DOIUrl":"10.1007/s40618-025-02593-6","url":null,"abstract":"<p><strong>Purpose: </strong>Graves' orbitopathy (GO) is a sight-threatening organ-specific autoimmune disease with complicated pathogenesis. Gut microbiota-derived tryptophan (Trp) metabolites play important roles in immune-related diseases, but their role in GO remains unknown.</p><p><strong>Methods: </strong>Trp metabolism-associated gut flora was analyzed by 16 S sequencing in GO patients and controls. Serum metabolomics profiling was performed to assess Trp metabolic pathway. Trp metabolites levels were measured by ELISA in 401 serum samples from a case-control study, and their effects on inflammation and proliferation in orbital fibroblasts were evaluated in vitro.</p><p><strong>Results: </strong>Trp metabolism-associated gut flora, including phylum Firmicutes and genus Anaerostipes, were significantly down-regulated in GO patients. Serum metabolomics revealed significant enrichment of Trp metabolic pathway in both GO and Graves' disease (GD) groups. Serum levels of indolepropionic acid (IPA), indole-3-lactate (ILA), and indoleacetic acid (IAA) were significantly decreased in both GD and GO patients compared to controls, with IAA levels further reduced in GO compared to GD patients. Notably, active GO patients had significantly lower IAA levels compared to inactive ones. Moreover, the levels of IAA were negatively correlated with clinical activity score and serum thyrotropin receptor antibody (TRAb) in GO patients. In vitro, IPA, ILA, and IAA mitigated TNFα-induced inflammation and proliferation in orbital fibroblasts by suppressing the Akt signaling pathway.</p><p><strong>Conclusion: </strong>Trp metabolites IAA maybe a novel biomarker for GO progression. And IPA, ILA and IAA may play a protective role in GO by regulating inflammation and proliferation in orbital fibroblasts, suggesting their potential as therapeutic targets for GO treatment.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"1781-1795"},"PeriodicalIF":3.5,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12313747/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144152492","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":"Long-term effects of adding an SGLT-2 inhibitor to insulin therapy in patients with type 1 diabetes. An observational study and systematic review of real-world evidence.","authors":"Alberto Maran, Federico Boscari, Carlo Fagarazzi, Maria Cristina Crepaldi, Monica Vedovato, Benedetta Maria Bonora, Daniela Bruttomesso, Mario Luca Morieri, Gian Paolo Fadini","doi":"10.1007/s40618-025-02602-8","DOIUrl":"10.1007/s40618-025-02602-8","url":null,"abstract":"<p><strong>Purpose: </strong>The addition of SGLT2i to insulin therapy in type 1 diabetes (T1D) is an emerging treatment strategy. This study evaluates the real-world effects of SGLT2i on glycaemic control and other outcomes in individuals with T1D.</p><p><strong>Methods: </strong>In this single-center retrospective study, we included 78 adults with T1D who initiated SGLT2i and were observed for up to 24 months. Data included demographics, laboratory values, diabetic complications, and ongoing therapy. The primary outcome was the change in HbA1c over time. Persistence on therapy and adverse events were also recorded.</p><p><strong>Results: </strong>The mean age was 47.2 years, diabetes duration 24.6 years, baseline HbA1c 8.3%, and BMI 29.8 kg/m². The median persistence on therapy was 14.8 months. HbA1c reduction was significantly associated with persistence (p = 0.01), with a maximum decrease of 0.61% at 6 months (p < 0.001). Time in range improved by 13.7% at 3 months (p < 0.001). Persistent users experienced a maximum weight loss of 2.5 kg at 9 months (p < 0.001). Insulin doses declined significantly (max 15% at 21 months). UACR declined significantly at 15 months (p = 0.025). Treatment discontinuation due to adverse events (mainly genitourinary tract infections) occurred in 25.6% of patients, and 1 episode of diabetic ketoacidosis was recorded. A review of the literature suggests that the observed effects are within the range of benefits reported previously from different countries.</p><p><strong>Conclusion: </strong>SGLT2i addition to insulin therapy in T1D patients resulted in sustained HbA1c reductions and weight loss. Therapy persistence significantly influenced outcomes, underscoring the importance of patient selection and monitoring for adverse effects.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"1759-1768"},"PeriodicalIF":3.5,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12313816/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144035657","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":"Treatment with antidepressant drugs and hyponatremia: a network meta-analysis.","authors":"Dario Norello, Giuseppe Defazio, Giovanni Corona, Chiara Caiulo, Mario Maggi, Alessandro Peri","doi":"10.1007/s40618-025-02587-4","DOIUrl":"10.1007/s40618-025-02587-4","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate the risk of hyponatremia during therapy with antidepressant drugs, in particular by investigating whether there is a different risk profile depending on the class or single active principles.</p><p><strong>Methods: </strong>A meta-analysis was performed including all studies in which the risk of hyponatremia in subjects with or without antidepressant treatment was assessed. An extensive Medline, Embase and Cochrane search was performed, to retrieve all studies published up to February 5th 2024, using the following words: hyponatremia and antidepressant.</p><p><strong>Results: </strong>Of 409 retrieved articles, 10 studies satisfied the inclusion criteria encompassing a total of 1,026,870 patients with 89,403 hyponatremic subjects. Treatments with selective serotonin reuptake inhibitors (OR = 3.31 [2.41;4.56], p < 0.01), serotonin-noradrenaline reuptake inhibitors (OR = 5.79 [1.27;26.49], p = 0.02) and tricyclic antidepressants (OR = 3.01 [1.27;7.14], p = 0.01) were found to be significantly associated with an increased risk of hyponatremia, whereas treatment with noradrenaline and specific serotonergic antidepressants was not. A network meta-analysis indicated that treatments with venlafaxine (OR = 5.99 [2.39;14.99], p < 0.01), paroxetine (OR = 4.93 [2.01;12.12], p < 0.01), sertraline (OR = 4.15 [1.98;8.70], p < 0.01), citalopram (OR = 3.49 [1.54;7.9], p < 0.01), escitalopram (OR = 3.49 [1.49;8.19], p < 0.01), fluoxetine (OR = 3.40 [1.13;10.21], p = 0.03) and mirtazapine (OR = 2.83 [1.16;6.92], p = 0.02) were found to be significantly associated with an increased risk of hyponatremia with a progressively decreasing OR. Clomipramine (OR = 4.50 [0.97;20.93], p = 0.05) also showed a trend towards a greater risk of hyponatremia. Otherwise, treatments with fluvoxamine, imipramine, maprotiline, amitriptyline and mianserin were not associated with an increased risk of hyponatremia.</p><p><strong>Conclusions: </strong>These data appear useful on clinical grounds, in order to increase the awareness regarding the possibility that antidepressants induce hyponatremia and to encourage regular serum sodium monitoring.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"1707-1715"},"PeriodicalIF":3.5,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144023514","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}