Journal of Endocrinological Investigation最新文献

{"title":"Additive effect of Bisphenol A and Pefluoro-sulphoctanoic acid exposure at subacute toxic levels, on a murine model of sertoli cell.","authors":"I Sabovic, L De Toni, A Di Nisio, C M Radu, D Gabbia, S De Martin, A Ferlin","doi":"10.1007/s40618-024-02498-w","DOIUrl":"10.1007/s40618-024-02498-w","url":null,"abstract":"<p><strong>Purpose: </strong>Endocrine disruptors (EDs) interfere with the endocrine system leading to health consquences and reproductive derangements. Most EDs are environmental pollutants whose risk evaluation is hampered by the simultaneous exposure to a number of chemicals. Here we investigated the possible mechanistic involvement of Sertoli cells, the nurse cell population in the seminiferous tubule, in the reproductive toxicity of Bisphenol A (BPA) and perfluoro-octane sulphonate (PFOS), two acknowledged EDs, at recognized subacute toxic levels.</p><p><strong>Methods: </strong>Mouse Sertoli cell line TM4 were exposed for 24 h to 40 ng/mL BPA or 30 ng/mL PFOS or their association. Cell proliferation was measuerd by MTT assay. Cell apoptosis was evaluated with Annexin-V/propidium iodide staining. Protein expression analysis was peformed by western blotting.</p><p><strong>Results: </strong>Compared to unexposed controls (100.0 ± 3.5%), cells exposed to BPA (79.5 ± 3.5%) or PFOS (76.0 ± 7.9%) showed reduced survival rate (P < 0.001 vs control). The exposure to the mixture of BPA and PFOS was associated with a further reduction of cell survival (63.9 ± 7.2%, P < 0.001 vs control) and an increase of the percentage of apoptotic cells (13.7 ± 4.6% control, 40.3 ± 13.5% BPA, PFOS 28.7 ± 5.6%, 67.1 ± 19.6% BPA + PFOS P = 0.001 vs control; P = 0.022 vs BPA). The exposure to the combination of BPA and PFOS was associated with Akt-signaling pathway activation and with the downstream caspase 3 cleavage. In addition, the exposure to the combination of BPA and PFOS was associated with NF-κB activation and increased expression of FasL.</p><p><strong>Conclusion: </strong>Subacute toxic levels of BPA and PFOS display additive effects on Sertoli cell apoptosis with the possible involvement of FasL-dependent germ cell apoptosis.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"951-958"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648552","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":"Management of autosomal dominant hypocalcemia type 1: Literature review and clinical practice recommendations.","authors":"Thomas De Coster, Karel David, Jeroen Breckpot, Brigitte Decallonne","doi":"10.1007/s40618-024-02496-y","DOIUrl":"10.1007/s40618-024-02496-y","url":null,"abstract":"<p><strong>Purpose: </strong>Autosomal Dominant Hypocalcemia type 1 (ADH1), caused by gain-of-function variants in the calcium-sensing receptor (CASR), is characterized by a variable degree of hypocalcemia and hypercalciuria with inappropriately low PTH. The clinical spectrum is broad, ranging from being asymptomatic to presenting with severe clinical features of hypocalcemia and end-organ damage such as nephrolithiasis and intracerebral calcifications. Although the underlying pathophysiology is different, ADH1 patients are often managed as patients with 'classical' primary hypoparathyroidism, possibly leading to (exacerbation of) hypercalciuria. New treatments such as PTH analogues and calcilytics directly targeting the CASR are in the pipeline. Specific clinical guidance for treatment and monitoring of ADH1 patients is lacking. The purpose of this study is to provide a literature review on management of ADH1, including new therapies, and to formulate practice recommendations.</p><p><strong>Methods: </strong>We searched for articles and ongoing clinical trials regarding management of ADH1.</p><p><strong>Results: </strong>Forty articles were included. First we review the conventional treatment of ADH1, focusing on active vitamin D, calcium supplements, thiazide diuretics, phosphorus binders and dietary recommendations. In a second part we give an overview of studies with emerging treatments in ADH1: PTH analogues (PTH1-34, rhPTH1-84, TransCon PTH and others) and calcilytics (preclinical studies and clinical trials). In a third part we discuss literature findings regarding monitoring of ADH1 patients. Finally, we formulate clinical practice recommendations.</p><p><strong>Conclusion: </strong>We provide an overview of conventional and new treatments for ADH1 patients. Based on these data, we propose practical recommendations to assist clinicians in the management of ADH1 patients.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"831-844"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950097/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142741041","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":"Emperor Leo I \"the Thracian\": a possible case of Graves' orbitopathy.","authors":"Remo Accorona, Alice Cremasco","doi":"10.1007/s40618-024-02529-6","DOIUrl":"10.1007/s40618-024-02529-6","url":null,"abstract":"<p><p>Representation of exophthalmos in ancient artworks is reported by several authors. In the present paper we analyze a sculpture belonging to the V century AD, likely embodying the eastern Roman emperor Leo I. As the portrait statue is sculpted with uncommon prominent eyes, we discuss the possibility that the historical personage was affected by exophthalmos due to Graves' orbitopathy.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"1057-1060"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142957117","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":"Insights into pubertal development: a narrative review on the role of epigenetics.","authors":"Anna-Mariia Shulhai, Anna Munerati, Marialaura Menzella, Paola Palanza, Susanna Esposito, Maria Elisabeth Street","doi":"10.1007/s40618-024-02513-0","DOIUrl":"10.1007/s40618-024-02513-0","url":null,"abstract":"<p><strong>Purpose: </strong>Puberty is a key phase of growth and development, characterized by psychophysical transformations. It is driven by a combination of genetic, hormonal, and environmental variables. Epigenetic mechanisms, including histone post-translational modifications and chromatin remodeling, microRNAs, and DNA methylation, play important roles in orchestrating the developmental processes. We describe environmental factors that may interact with genetics, and factors influencing puberty onset, focusing in particular on epigenetic mechanisms that can help understand the timing and variations that lead to precocious or delayed puberty.</p><p><strong>Methods: </strong>We conducted a narrative review of associations between puberty and epigenetic mechanisms through a comprehensive search of PubMed, Scopus, and Web of Science databases.</p><p><strong>Results: </strong>The chromatin landscape of genes as KISS1 has revealed dynamic changes in histone modifications as puberty approaches, influencing the stimulation or inhibition of gene expression critical for reproductive maturation. MiRNAs regulate gene expression, whereas DNA methylation affects activation or repression of gene transcription of genes involved in pubertal timing. Moreover, studies in animal models have provided insights into the role of DNA methylation and miRNAs in brain sexual differentiation, highlighting the active involvement of epigenetic mechanisms in shaping sexually dimorphic brain structures.</p><p><strong>Conclusion: </strong>This review highlights the importance of understanding the complex interplay between epigenetic regulation and pubertal development, which can lead to new therapeutic options and shed light on the fundamental processes driving reproductive maturation.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"817-830"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950117/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142865956","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":"Who and how to screen for endogenous hypercortisolism in adrenal and pituitary incidentaloma.","authors":"Kimberly Coscia, Martina Verrienti, Guido Di Dalmazi, Maria Chiara Zatelli","doi":"10.1007/s40618-024-02456-6","DOIUrl":"10.1007/s40618-024-02456-6","url":null,"abstract":"<p><strong>Purpose: </strong>Adrenal incidentalomas (AIs) and pituitary incidentalomas (PIs) have become frequent findings in the last two decades due to the widespread use of cross-sectional imaging in clinical practice. This review investigates the prevalence of endogenous hypercortisolism in patients with AIs and PIs. We aim to underscore the importance of early detection and management of endogenous hypercortisolism in this subset of patients to mitigate associated cardiometabolic complications and reduce mortality.</p><p><strong>Methods: </strong>We performed a PubMed literature search to provide updates regarding the prevalence of endogenous hypercortisolism in patients with AIs and PIs, the demographic and clinical characteristics of the studied populations, and the diagnostic test accuracy for early identification of endogenous hypercortisolism.</p><p><strong>Results: </strong>Hypercortisolism, especially mild autonomous cortisol secretion (MACS), was identified in a notable proportion of patients with AIs. MACS was associated with increased cardiometabolic risks, contributing to an elevated overall mortality rate in this cohort. Furthermore, PIs were found to be linked with Cushing's disease in a subset of patients, emphasizing the need for thorough evaluation and monitoring.</p><p><strong>Conclusion: </strong>Early diagnosis and appropriate management of endogenous hypercortisolism are essential in preventing complications and improving patient outcomes. As the presence of undetected hypercortisolism is associated with clinical complications over time, the accurate identification of high-risk populations to screen remains crucial.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"63-71"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12031990/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142478399","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":"Deciphering ¹⁸F-DOPA uptake in SDH-related head and neck paragangliomas: a radiomics approach.","authors":"Valentina Berti, Elsa Fasciglione, Anne Charpiot, Flavio Montanini, Miriam Pepponi, Andrea Leo, Fabrice Hubele, David Taieb, Karel Pacak, Bernard Goichot, Alessio Imperiale","doi":"10.1007/s40618-024-02515-y","DOIUrl":"10.1007/s40618-024-02515-y","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the influence of germline succinate dehydrogenase (SDHx) pathogenic variants on 6-[¹⁸F]-fluoro-3,4-dihydroxyphenylalanine (¹⁸F-DOPA) Positron Emission Tomography (PET) radiomic signature of head and neck paragangliomas (HNPGLs).</p><p><strong>Methods: </strong>Forty-seven patients (20 SDH pathogenic variants carriers) harboring 55 HNPGLs were retrospectively included. HNPGLs were delineated using Nestle adaptive threshold. 128 radiomic features were extracted and harmonized to correct for batch effects. Principal Component Analysis (PCA) was performed to remove redundancy and avoid collinearity. The most representative feature of each component was tested with multivariate stepwise logistic binary regression analysis (LBRA) to identify variables predictive of genetic status.</p><p><strong>Results: </strong>¹⁸F-DOPA Positron Emission Tomography/Computed Tomography (PET/CT) detected 28/29 carotid body HNPGLs, 23/23 jugulotympanic HNPGLs, and 4/4 vagal HNPGLs. SUVmax was significantly higher in SDH-related HNPGLs (p = 0.003). PCA allowed identification of 4 Components. The most representative variables of Component 1 and 2 (including intensity and intensity-related textural features, and not intensity-related textural features, respectively) were Intensity-based (IB)-SUVmedian and Grey Level Run Length Matrix-Long Run Low Gray Level Emphasis (GLRLM-LRLGLE). SDHx HNPGLs exhibited higher activity scores and more homogeneous texture. At patient level, SDHx cases showed significantly higher IB-SUVmedian values (p < 0.001), and lower GLRLM-LRLGLE than sporadic patients (p = 0.005). IB-SUVmedian was found to be an independent predictor of genetic status at lesion (71.0%) and patient level (77.8%).</p><p><strong>Conclusion: </strong>The present study pioneers the application of ¹⁸F-DOPA PET radiomics for HNPGLs, suggesting the influence of germline SDH pathogenic variants on ¹⁸F-FDOPA uptake intensity and textural heterogeneity. Integrating radiomics with genetic data provides new insights into the correlation between PET features and underlying molecular dysregulation.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"941-950"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142814655","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: Who and how to screen for endogenous hypercortisolism in adrenal and pituitary incidentaloma.","authors":"Kimberly Coscia, Martina Verrienti, Guido Di Dalmazi, Maria Chiara Zatelli","doi":"10.1007/s40618-024-02489-x","DOIUrl":"10.1007/s40618-024-02489-x","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"73"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12031749/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142630618","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":"Lactobacillus murinus alleviates insulin resistance via promoting L-citrulline synthesis.","authors":"Jianglan Long, Zhe Shi, Zenghui Miao, Linjie Dong, Dan Yan","doi":"10.1007/s40618-024-02500-5","DOIUrl":"10.1007/s40618-024-02500-5","url":null,"abstract":"<p><strong>Aims: </strong>The role of Lactobacillus murinus as a potential probiotic is being explored. Our objectives were to explore the effects of Lactobacillus murinus on insulin resistance and the underlying mechanism.</p><p><strong>Methods: </strong>Insulin resistance animal models were applied to study the effect of L. murinus and the underlying mechanism by six weeks of treatment. Metformin was administered in vitro to analyze the growth and metabolites of L. murinus. Serum metabolites were further analyzed after L. murinus administration. The effect of L-citrulline and the underlying mechanism in alleviating insulin resistance were evaluated.</p><p><strong>Results: </strong>L. murinus not only reduced body weight gain and postprandial blood glucose (PBG) but improved impaired glucose tolerance (IGT) and insulin resistance. Moreover, L. murinus inhibited the secretion of pro-inflammatory factors (IL-1β, IL-6 and TNF-α) while promoted the secretion of anti-inflammatory factor (IL-10). Further, L. murinus promoted the expression of carnitine palmitoyl transferase 1 (CPT1) while inhibited phosphoenolpyruvate carboxykinase (PCK) and glucose-6-phosphatase (G6Pase). A total of 147 metabolites of L. murinus were identified, in which the content of L-citrulline increased to 7.94 times after metformin regulation. Further, the serum concentration of L-citrulline significantly increased after L. murinus administration. Similarly, L-citrulline reduced body weight gain and PBG, improved IGT and insulin resistance. Additionally, L-citrulline improved inflammation, promoted CPT1 while inhibited PCK and G6Pase.</p><p><strong>Conclusions: </strong>L. murinus mediated by L-citrulline alleviated insulin resistance via promoting fatty acid oxidation and inhibiting gluconeogenesis, suggesting that supplementation of L. murinus could be a potential therapeutic approach for type 2 diabetes related to insulin resistance.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"1005-1015"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142669538","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":"\"Who and how to screen for endogenous hypercortisolism among young women presenting with clinical hyperandrogenism and/or menstrual abnormalities \".","authors":"Francesco Ferraù, Ylenia Alessi, Federica Nista, Anna Roux, Diego Ferone, Emanuela Arvat","doi":"10.1007/s40618-025-02537-0","DOIUrl":"10.1007/s40618-025-02537-0","url":null,"abstract":"<p><p>Endogenous Cushing's syndrome (CS) is rare, with an incidence of 0.7-2.4 per million population per year according to population-based studies. However, evaluation of patients presenting disorders potentially related to cortisol excess, and therefore with a 'high risk of clinical suspicion' profile, could bring out several unrecognized cases. CS represents one of the most challenging endocrine diseases, with clinical features overlapping with those of common conditions affecting general population, invariably resulting in potential mis- or delayed diagnosis with negative consequences in terms of morbidity and mortality. CS is remarkably prevalent among young females, variably presenting with menstrual irregularities and/or signs and symptoms of hyperandrogenism. Herein we briefly reviewed literature on prevalence and clinical impact of menses abnormalities, acne and hirsutism -also coexisting in the context of a polycystic ovary syndrome- in CS, aiming at clarifying if, when and how to screen for hypercortisolism young women with these disorders.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"83-89"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12031912/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143469717","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 simplified four-tier classification for thyroid core needle biopsy.","authors":"M Paja, J L Del Cura, R Zabala, I Korta, Mª T Gutiérrez, A Expósito, A Ugalde","doi":"10.1007/s40618-024-02508-x","DOIUrl":"10.1007/s40618-024-02508-x","url":null,"abstract":"<p><strong>Purpose: </strong>To propose a simplified histological classification for core-needle biopsy (CNB) of thyroid nodules with four diagnostic categories (DC) and provide the risk of malignancy (ROM) and the expected incidence for each DC. There is no uniform scheme for categorizing CNB specimens, except for a Korean diagnostic classification similar to the Bethesda system for FNAC.</p><p><strong>Methods: </strong>Data from a single institution using CNB as a routine diagnostic tool for thyroid nodules. Biopsies were classified as non-diagnostic, benign, follicular tumour (FT) or malignant. The frequency of each DC and the correlation with surgical pathology of nodules undergoing surgery after CNB were evaluated.</p><p><strong>Results: </strong>Of 6284 CNBs on 5782 nodules [195 (3.1%) non-diagnostic, 5043 (80.3%) benign, 435 (6.9%) FT and 611 (9.7%) malignant], 1914 nodules (33.1%) underwent surgery after 2016 CNBs: 48 non-diagnostic, 1035 benign, 355 FT and 578 malignant. Malignancy was diagnosed after surgery in 11 non-diagnostic (ROM: 22.9%), 23 benign (ROM: 2.2%), 44 FT (ROM: 12.4%, 11.5% excluding low-grade malignancy) and 568 malignant CNBs (ROM: 98.3%, 93.8% excluding low-grade malignancy). Sensitivity and positive predictive value for malignancy of FT or malignant CNB were 94.7% and 65.6%, and for thyroid neoplasm (adenoma or carcinoma) were 93.2% and 92.6%.</p><p><strong>Conclusions: </strong>Our diagnostic classification for CNB of thyroid nodules has a high diagnostic accuracy with a low rate of indeterminate categories. This classification, applied in a Western practice, shows a low ROM for nodules classified as follicular tumours, which could be improved with immunohistochemical studies.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"895-904"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689345","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}