Journal of Endocrinological Investigation最新文献

{"title":"Association of noise exposure with lipid metabolism among Chinese adults: mediation role of obesity indices.","authors":"Z Chen, H Zhang, X Huang, Y Tao, Z Chen, X Sun, M Zhang, L A Tse, S Weng, W Chen, W Li, D Wang","doi":"10.1007/s40618-024-02420-4","DOIUrl":"10.1007/s40618-024-02420-4","url":null,"abstract":"<p><strong>Purpose: </strong>Noise exposure in the workplace has been linked to a number of health consequences. Our objectives were to explore the relationship between occupational noise and lipid metabolism and evaluate the possible mediating effect of obesity indices in those relationships with a cross-sectional study design.</p><p><strong>Methods: </strong>Cumulative noise exposure (CNE) was used to measure the level of noise exposure. Logistic regression models or generalized linear models were employed to evaluate the association of occupational noise and obesity with lipid metabolism markers. Cross-lagged analysis was conducted to explore temporal associations of obesity with lipid metabolism.</p><p><strong>Results: </strong>A total of 854 participants were included, with each one-unit increase in CNE, the values of total cholesterol/high-density lipoprotein cholesterol and low-density lipoprotein cholesterol/high-density lipoprotein cholesterol increased by 0.013 (95% confidence interval: 0.006, 0.020) and 0.009 (0.004, 0.014), as well as the prevalence of dyslipidemia increased by 1.030 (1.013, 1.048). Occupational noise and lipid metabolism markers were all positively associated with body mass index (BMI), waist circumference (WC), a Body Shape Index (ABSI) and a Body Shape Index and Body Roundness Index (BRI) (all P < 0.05). Moreover, BMI, WC, ABSI and BRI could mediate the associations of occupational noise with lipid metabolism; the proportions ranged from 21.51 to 24.45%, 23.84 to 30.14%, 4.86 to 5.94% and 25.59 to 28.23%, respectively (all P < 0.05).</p><p><strong>Conclusions: </strong>Our study demonstrates a positive association between occupational noise and abnormal lipid metabolism, and obesity may partly mediate the association. Our findings reinforce the need to take practical steps to reduce or even eliminate the health risks associated with occupational noise.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"245-255"},"PeriodicalIF":5.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141441012","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":"Influence of state-of-the-art laboratory techniques on the phenotyping of women with polycystic ovary syndrome in the clinical setting.","authors":"M Luque-Ramírez, M Á Martínez-García, M Insenser, E Fernández-Durán, A Quintero-Tobar, T Fiers, J-M Kaufman, A M García-Cano, M Rosillo Coronado, L Nattero-Chávez, H F Escobar-Morreale","doi":"10.1007/s40618-024-02416-0","DOIUrl":"10.1007/s40618-024-02416-0","url":null,"abstract":"<p><strong>Purpose: </strong>Evidence-based guidelines for the management of polycystic ovary syndrome (PCOS) recommend clinical laboratories use liquid chromatography-tandem mass spectrometry (LC-MS/MS) for diagnosing biochemical hyperandrogenism. However, automated immunoassays are still mostly used in routine laboratories worldwide. Another hurdle for PCOS phenotyping in the clinical setting is ultrasound assessment of polycystic ovarian morphology. We address the impact of using state-of-the-art (LC-MS/MS) and of an anti-müllerian hormone (AMH) assay on the diagnosis of PCOS in routine practice.</p><p><strong>Methods: </strong>In a cross-sectional study, we included 359 premenopausal women consecutively evaluated because of symptoms of functional androgen excess or hyperandrogenemia, and finally diagnosed with PCOS. Patients were submitted to routine phenotyping based on serum androgen measurements by immunoassays and an ovarian ultrasound when necessary. Samples of all patients were also assayed by LC-MS/MS for hyperandrogenemia and for circulating AMH.</p><p><strong>Results: </strong>The observed agreement between immunoassays and LC-MS/MS in identifying hyperandrogenemia was poor [78.0%; k(95%CI): 0.366 (0.283;0.449)]. The observed agreement between ultrasound and increased AMH was 27.3% [(95%CI): 0.060 (0.005; 0.115)]. Using LC-MS/MS changed PCOS phenotypes in 60(15.8%) patients. Fifty-two (18.3%) individuals with hyperandrogenemia by routine immunoassays no longer presented with androgen excess by LC-MS/MS. Overall diagnostic agreement between routine assessment using immunoassays and ultrasound and that derived from LC-MS/MS and the addition of AMH to US was moderate [weighted κ (linear weights): 0.512 (0.416;0.608)].</p><p><strong>Conclusions: </strong>Immunoassays used in routine practice are unacceptably inaccurate for phenotyping women with PCOS. Our data cast some doubts upon the interchangeability of serum AMH and ultrasound examination for the diagnosis of PCOS.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"131-143"},"PeriodicalIF":5.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11729125/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141443626","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":"Biochemical liver damage during gender affirming therapy in trans adults assigned female at birth: a meta-analysis.","authors":"D Tienforti, G Savignano, L Spagnolo, F Di Giulio, M G Baroni, A Barbonetti","doi":"10.1007/s40618-024-02418-y","DOIUrl":"10.1007/s40618-024-02418-y","url":null,"abstract":"<p><strong>Purpose: </strong>To assess the effects of testosterone (T)-based gender affirming hormone therapy (GAHT) on liver blood tests (LBTs) in assigned female at birth adults, using a meta-analytic approach.</p><p><strong>Methods: </strong>Prospective and retrospective studies were selected that reported the prevalence of biochemical liver damage (BLD) and LBTs changes during T therapy. Data collected included pre-and-during therapy alanine-aminotransferase (ALT), aspartate-aminotransferase (AST), gamma-glutamyl-transferase (GGT), and alkaline phosphatase (ALP) mean concentration values.</p><p><strong>Results: </strong>The prevalence of BLD in 14 studies on 1698 subjects was 1% (95% CI 0.00-3.00; I² = 14.1%; p = 0.82). In 17 studies on 2758 subjects, GAHT was associated with a statistically (but not clinically) significant increase in AST, GGT and ALP at 12 months and ALT at 3-7 (MD: 1.19 IU/l; 95% CI 0.31, 2.08; I²: 0%), at 12 (MD: 2.31 IU/l; 95% CI 1.41, 3.21; I²: 29%), but with no more significant increase at 24 months (MD: 1.71 IU/l; 95% CI -0.02, 3.44; I²: 0%).</p><p><strong>Conclusions: </strong>Analysis of aggregate estimates confirms a low risk of BLD and abnormalities in LBTs, transient in most cases, during T-based GAHT, thus suggesting a limited need for careful liver monitoring in AFAB people.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"161-171"},"PeriodicalIF":5.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11729134/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141441013","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":"Bromocriptine sensitivity in bromocriptine-induced drug-resistant prolactinomas is restored by inhibiting FGF19/FGFR4/PRL.","authors":"Z Zhu, B Hu, D Zhu, X Li, D Chen, N Wu, Q Rao, Z Zhang, H Wang, Y Zhu","doi":"10.1007/s40618-024-02408-0","DOIUrl":"10.1007/s40618-024-02408-0","url":null,"abstract":"<p><strong>Purpose: </strong>At present, various treatment strategies are available for pituitary adenomas, including medications, surgery and radiation. The guidelines indicate that pharmacological treatments, such as bromocriptine (BRC) and cabergoline (CAB), are important treatments for prolactinomas, but drug resistance is an urgent problem that needs to be addressed. Therefore, exploring the mechanism of drug resistance in prolactinomas is beneficial for clinical treatment.</p><p><strong>Methods: </strong>In our research, BRC-induced drug-resistant cells were established. Previous RNA sequencing data and an online database were used for preliminary screening of resistance-related genes. Cell survival was determined by Cell Counting Kit-8 (CCK-8) assay, colony formation assays and flow cytometry. Quantitative real-time polymerase chain reaction (qRT‒PCR), western blotting, immunohistochemistry, immunofluorescence and Co-immunoprecipitation (Co-IP) were used to assess the molecular changes and regulation. The therapeutic efficacy of BRC and FGFR4 inhibitor fisogatinib (FISO) combination was evaluated in drug-resistant cells and xenograft tumors in nude mice.</p><p><strong>Results: </strong>Consistent with the preliminary results of RNA sequencing and database screening, fibroblast growth factor 19 (FGF19) expression was elevated in drug-resistant cells and tumor samples. With FGF19 silencing, drug-resistant cells exhibited increased sensitivity to BRC and decreased intracellular phosphorylated fibroblast growth factor receptor 4 (FGFR4) levels. After confirming that FGF19 binds to FGFR4 in prolactinoma cells, we found that FGF19/FGFR4 regulated prolactin (PRL) synthesis through the ERK1/2 and JNK signaling pathways. Regarding the effect of targeting FGF19/FGFR4 on BRC efficacy, FISO and BRC synergistically inhibited the growth of tumor cells, promoted apoptosis and reduced PRL levels.</p><p><strong>Conclusion: </strong>Overall, our study revealed FGF19/FGFR4 as a new mechanism involved in the drug resistance of prolactinomas, and combination therapy targeting the pathway could be helpful for the treatment of BRC-induced drug-resistant prolactinomas.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"67-80"},"PeriodicalIF":5.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141460179","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":"Measurement of PDE5 concentration in human serum: proof-of-concept and validation of methodology in control and prostate cancer patients.","authors":"Giovanni Luca Gravina, Eugenia Guida, Maria Dri, Renato Massoud, Savino M Di Stasi, Giorgio Fucci, Andrea Sansone, Susanna Dolci, Emmanuele A Jannini","doi":"10.1007/s40618-024-02428-w","DOIUrl":"10.1007/s40618-024-02428-w","url":null,"abstract":"<p><strong>Purpose: </strong>We aimed to investigate if the type 5 phosphodiesterase (PDE5), an enzyme with cardinal biological functions in sexual and cardiovascular health, can be detected and quantited in human serum.</p><p><strong>Methods: </strong>Blood samples were collected from control male and female subjects. PDE5 levels were measured by a specific ELISA kit. ROC curves weighted for age and serum levels of PSA (male subjects), or age (female subjects) were used to identify the predictive ability in the detection of PCa. Sensitivity, specificity, PPV and NPV values were determined for cut-off value determined during ROC curve analysis.</p><p><strong>Results: </strong>41 control male subjects, 18 control female subjects, and 55 consecutive subjects, of which 25 were affected by benign prostatic hypertrophy (BPH) and 30 with histologically confirmed prostate cancer (PCa), were studied. PDE5 serum levels were detectable in all subjects (range: 5 to 65 ng/ml). Analysis by MANCOVA identified a significant difference in serum PDE5 between control subjects or hyperplasia patients and PCa patients. Marginal means of serum PDE5 concentrations showed a significant difference (p < 0.001). The ROC curve demonstrated that PDE5 serum levels can predict men with or without PCa, with 0.806 AUC value (p < 0.0001). Using a 12.705 ng/ml PDE5 serum cut-off yielded sensitivity, specificity, PPV, and NPV of 83.3%, 77.27%, 62.5%, and 91.1% in detecting men with histologically proven PCa, respectively.</p><p><strong>Conclusions: </strong>We demonstrated, for the first time, that PDE5 levels can be detected in human sera and that PCa patients have significantly higher PDE5 concentration compared to BPH patients or male and female controls. While serum PDE5 level measurement may open new research avenues, the clinical relevance of PDE5 levels in PCa patients deserves further investigation.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"153-160"},"PeriodicalIF":5.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11729060/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142330487","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":"Selective anti-CXCR2 receptor blockade by AZD5069 inhibits CXCL8-mediated pro-tumorigenic activity in human thyroid cancer cells in vitro.","authors":"F Coperchini, A Greco, E Petrosino, L Croce, M Teliti, N Marchesi, A Pascale, B Calì, P Pignatti, F Magri, M Uddin, M Rotondi","doi":"10.1007/s40618-024-02410-6","DOIUrl":"10.1007/s40618-024-02410-6","url":null,"abstract":"<p><strong>Background: </strong>Thyroid cancer is the most common endocrine malignancy. Current therapies are successful, however some patients progress to therapeutically refractive disease. The immunotherapeutic potential of the CXCL8-chemokine/CXCR2-chemokine-receptor system is currently being explored in numerous human cancers. This study aimed to evaluate if the targeting of CXCR2 by its selective antagonist, AZD5069, could modulate CXCL8-mediated pro-tumorigenic effects in thyroid-cancer (TC) cells in vitro.</p><p><strong>Methods: </strong>Normal human primary thyroid cells (NHT) and TC cell lines TPC-1 (RET/PTC), BCPAP, 8505C and 8305C (BRAFV600e) were treated with AZD5069 (100 pM-10 µM) over a time-course. Viability and proliferation were assessed by WST-1 and crystal violet assays. CXCL8 and CXCR2 mRNA were evaluated by RT-PCR. CXCL8-protein concentrations were measured in cell culture supernatants by ELISA. CXCR2 on cell surface was evaluated by flow-cytometry. Cell-migration was assessed by trans-well-migration chamber-system.</p><p><strong>Results: </strong>AZD5069 exerted negligible effects on cell proliferation or viability. AZD5069 significantly reduced CXCR2, (but not CXCL8) mRNAs in all cell types. CXCR2 was reduced on the membrane of some TC cell lines. A significant reduction of the CXCL8 secretion was found in TPC-1 cells (basal-secretion) and NHT (TNFα-induced secretion). AZD5069 significantly reduced basal and CXCL8-induced migration in NHT and different TC cells.</p><p><strong>Conclusions: </strong>Our findings confirm the involvement of the CXCL8/CXCR2-axis in promoting pro-tumorigenic effects in TC cells, further demonstrating its immunotherapeutic significance in human cancer.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"53-65"},"PeriodicalIF":5.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11729135/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141428035","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":"Association between osteocalcin and residual β-cell function in children and adolescents newly diagnosed with type 1 diabetes: a pivotal study.","authors":"M Valenzise, B Bombaci, F Lombardo, S Passanisi, C Lombardo, C Lugarà, F D'Amico, L Grasso, M Aguennouz, A Catalano, G Salzano","doi":"10.1007/s40618-024-02414-2","DOIUrl":"10.1007/s40618-024-02414-2","url":null,"abstract":"<p><strong>Purpose: </strong>This pivotal study aimed to evaluate circulating levels of bone remodeling markers in children and adolescents at the onset of type 1 diabetes (T1D). Additionally, we assessed their correlation with glucose control, residual β-cell function, and the severity of presentation.</p><p><strong>Methods: </strong>In this single-center cross-sectional study, we recruited children and adolescents newly diagnosed with T1D at our tertiary-care Diabetes Centre. Anamnestic, anthropometric, clinical, and biochemical data at T1D diagnosis were collected. Basal and stimulated C-peptide levels were assessed, along with the following bone remodeling biomarkers: osteocalcin (OC), alkaline phosphatase (ALP), parathormone (PTH), 25-OH Vitamin D (25OH-D), and the C-terminal cross-linked telopeptide of type 1 collagen (CTX).</p><p><strong>Results: </strong>We enrolled 29 individuals newly diagnosed with T1D, with a slight male prevalence (51.7%). The mean age was 8.4 ± 3.7 years. A positive correlation between OC and stimulated C-peptide (R = 0.538; p = 0.026) and between PTH and serum HCO3- (R = 0.544; p = 0.025) was found. No other correlations between bone remodeling biomarkers and clinical variables were detected.</p><p><strong>Conclusion: </strong>Our data showed a positive correlation between OC levels and residual β-cell function in children and adolescents at T1D presentation. Further longitudinal studies evaluating OC levels in pediatric subjects with T1D are needed to better understand the complex interaction between bone and glucose metabolisms.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"227-232"},"PeriodicalIF":5.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141535761","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 andrological disorders from childhood and adolescence to transition age: guidelines from the Italian Society of Andrology and Sexual Medicine (SIAMS) in collaboration with the Italian Society for Pediatric Endocrinology and Diabetology (SIEDP)-Part-1\".","authors":"M Bonomi, B Cangiano, S Cianfarani, A Garolla, D Gianfrilli, F Lanfranco, G Rastrelli, E Sbardella, G Corona, A M Isidori, V Rochira","doi":"10.1007/s40618-024-02435-x","DOIUrl":"10.1007/s40618-024-02435-x","url":null,"abstract":"<p><strong>Purpose: </strong>Andrological pathologies in the adulthood are often the results of conditions that originate during childhood and adolescence and sometimes even during gestation and neonatal period. Unfortunately, the reports in the literature concerning pediatric andrological diseases are scares and mainly concerning single issues. Furthermore, no shared position statement are so far available.</p><p><strong>Methods: </strong>The Italian Society of Andrology and Sexual Medicine (SIAMS) commissioned an expert task force involving the Italian Society of Pediatric Endocrinology and Diabetology (SIEDP) to provide an updated guideline on the diagnosis and management of andrological disorders from childhood and adolescence to transition age. Derived recommendations were based on the grading of recommendations, assessment, development, and evaluation (GRADE) system.</p><p><strong>Results: </strong>A literature search of articles in English for the term \"varicoceles\", \"gynecomastia\", \"fertility preservation\", \"macroorchidism\", \"precocious puberty\" and \"pubertal delay\" has been performed. Three major aspects for each considered disorder were assessed including diagnosis, clinical management, and treatment. Recommendations and suggestions have been provided for each of the mentioned andrological disorders.</p><p><strong>Conclusions: </strong>These are the first guidelines based on a multidisciplinary approach that involves important societies related to the field of andrological medicine from pediatric to transition and adult ages. This fruitful discussion allowed for a general agreement on several recommendations and suggestions to be reached, which can support all stakeholders in improving andrological and general health of the transitional age.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"1-22"},"PeriodicalIF":5.4,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11729124/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141914336","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":"Diagnostic delay, older age, and hormonal levels at diagnosis affect disease burden and mortality in acromegaly.","authors":"Valentina Gasco, Nunzia Prencipe, Daniela Cuboni, Emanuele Varaldo, Michela Sibilla, Luigi Simone Aversa, Alessandro Maria Berton, Fabio Bioletto, Ezio Ghigo, Silvia Grottoli, Mauro Maccario","doi":"10.1007/s40618-024-02519-8","DOIUrl":"https://doi.org/10.1007/s40618-024-02519-8","url":null,"abstract":"<p><strong>Purpose: </strong>Acromegaly, a rare disease with peak incidence in early adulthood, is marked by significant diagnostic delay and increased mortality due to complications. While older patients often show milder disease activity, they experience longer diagnostic delay. Higher hormonal levels, advanced age, and prolonged delay are associated with more systemic complications. The interplay between hormonal levels, age at diagnosis, and diagnostic delay on disease activity and complications remains unclear. This study aimed to assess the hormonal and cardiometabolic features, as well as mortality, of acromegaly based on diagnostic delay and age at diagnosis.</p><p><strong>Methods: </strong>A retrospective study of 203 acromegalic patients, stratified by age at diagnosis (< 65 years, n = 175; ≥ 65 years, n = 28) and diagnostic delay (≤ 5 years, n = 103; > 5 years, n = 100). Data on clinical and hormonal profiles, cardiometabolic complications, and mortality were analyzed.</p><p><strong>Results: </strong>In multivariate analysis, age at diagnosis and diagnostic delay did not predict higher IGF-I SDS, which was associated only with male gender (OR 3.70, p = 0.001) and cardiometabolic burden (OR 3.36, p = 0.02). Younger age (OR 0.94, p = 0.000) and longer diagnostic delay (OR 1.15, p = 0.002) correlated with higher GH levels. Older age (OR 1.12, p = 0.000) and higher IGF-I SDS (OR 3.06, p = 0.02) were linked to greater cardiometabolic burden. Mortality was higher in older patients (OR 1.03, p = 0.03) and those with longer diagnostic delay (OR 1.10, p = 0.02).</p><p><strong>Conclusions: </strong>1) older age at diagnosis strongly impacts cardiometabolic complications, while diagnostic delay has a lesser effect; 2) male gender, older age, diagnostic delay, and cardiometabolic burden predict hormonal disease burden; 3) older age and IGF-I SDS predict cardiometabolic complications; 4) mortality is predicted by older age and prolonged diagnostic delay.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-12-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142911036","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":"https://doi.org/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":""},"PeriodicalIF":5.4,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","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":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}