Endokrynologia Polska最新文献

{"title":"A novel pathogenic MEN1 variant in a three-member family with multiple endocrine neoplasia type 1.","authors":"Magdalena Kochman, Aldona Janoska, Witold Chudziński, Wojciech Zgliczyński, Krystian Jażdżewski","doi":"10.5603/ep.111828","DOIUrl":"10.5603/ep.111828","url":null,"abstract":"","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":" ","pages":"392-393"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148595102","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Body mass index as a predictor of metabolic dysfunction‑associated steatotic liver disease - insights from the Polish Gallstone Surgery Registry.","authors":"Gerard Stupecki, Dorota Krzos, Łukasz Nawacki, Magdalena Kołomańska, Robert Mazurkiewicz, Marcin Niżnik, Krzysztof Ratnicki, Małgorzata Czerniak, Piotr Myrcha, Sebastian Lenarcik, Kryspin Mitura, Małgorzata Pajer, Laura Kacprzak, Piotr Richter, Maciej Sroczyński, Iwona Gorczyca-Głowacka","doi":"10.5603/ep.108313","DOIUrl":"10.5603/ep.108313","url":null,"abstract":"<p><strong>Introduction: </strong>The relationship between metabolic dysfunction-associated steatotic liver disease (MASLD) and overweight/obesity, as well as prediabetes or type 2 diabetes mellitus (T2DM), is complex. It is known that these conditions increase the risk of MASLD. The aim of this study was to assess the influence of body mass index (BMI), sex, and prediabetes/T2DM status on the prevalence of MASLD.</p><p><strong>Material and methods: </strong>The study included patients from The Polish Gallstone Surgery Registry, and MASLD was diagnosed according to current criteria.</p><p><strong>Results: </strong>Among the 3392 participants, 859 (25.3%) had normal body mass, 1302 (38.4%) were overweight, and 1231 (36.3%) had obesity. MASLD was diagnosed in 828 patients (24.4%), including 93 (11%) with normal body mass, 280 (21.4%) who were overweight, and 455 (36.9%) with obesity, p < 0.001. The odds ratios (ORs) for MASLD increased from overweight [OR = 2.30, 95% confidence interval (CI): 1.62-3.30] to obesity class I (OR = 4.50, 95% CI: 3.16-6.50), obesity class II (OR = 7.91, 95% CI: 5.11-12.33), and obesity class III (OR = 12.74, 95% CI: 7.11-22.93), with p < 0.001 for all categories. The risk of MASLD occurrence increased with BMI in obesity class III and was OR = 4.70, 95% CI: 2.08-10.64, p = 0.02 in males and OR = 5.32, 95% CI: 2.91-9.71, p < 0.001 in females. For patients without T2DM or prediabetes, the risk of MASLD in obesity class III was nearly 9-fold higher [hazard ratio (HR): 8.77, 95% CI: 5.28-14.58, p = 0.001], compared with HR = 2.85, 95% CI: 1.43-5.68, p = 0.003 for those with T2DM or prediabetes.</p><p><strong>Conclusions: </strong>A significant association was demonstrated between the prevalence of MASLD and increasing BMI, and this relationship was more pronounced in women. T2DM/prediabetes had a predominant influence on the occurrence of MASLD. Both patients with excess body weight and, especially, patients with T2DM/prediabetes require mandatory MASLD diagnostics.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"77 1","pages":"51-61"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147501325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Meacham syndrome in a patient with gonadal dysgenesis, congenital cardiac malformations, and short stature.","authors":"Elżbieta Moszczyńska, Oliwia Miszczuk, Marta Baszyńska-Wilk","doi":"10.5603/ep.109886","DOIUrl":"https://doi.org/10.5603/ep.109886","url":null,"abstract":"","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"77 2","pages":"122-123"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147792833","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Upregulation of CSDE1 mediated by METTL3 facilitates the progression of papillary thyroid cancer via the Wnt/β-catenin pathway.","authors":"Zhuodong Xu, Yuhan Ding, Bingcheng Li, Zhouci Zheng, Pihong Li","doi":"10.5603/ep.111586","DOIUrl":"10.5603/ep.111586","url":null,"abstract":"<p><strong>Introduction: </strong>Papillary thyroid carcinoma (PTC) has a high incidence, and identifying key molecules is crucial for improving its treatment.This study aimed to clarify the expression, prognostic value, biological function, and regulatory mechanism of CSDE1 in PTC.</p><p><strong>Material and methods: </strong>Bioinformatics analysis of TCGA data, RT-qPCR, and western blot assays were used to detect CSDE1/METTL3expression in PTC tissues and cells. CCK-8, colony formation, wound-healing, and Transwell assays were used to evaluate cell phenotypes.MeRIP-qPCR was used to detect m⁶A modification. A dual-luciferase reporter assay was used to confirm regulatory relationships. Pearsoncorrelation analysis was used to evaluate clinical correlations.</p><p><strong>Results: </strong>CSDE1 was highly expressed in PTC and correlated with advanced clinical features and poor prognosis. CSDE1 knockdownsuppressed the proliferation, migration, invasion, and EMT of PTC cells. CSDE1 activated the Wnt/β-catenin pathway. Moreover, METTL3negatively regulated CSDE1 expression via m⁶A modification.</p><p><strong>Conclusions: </strong>CSDE1 promotes PTC progression through the Wnt/β-catenin pathway under the regulation of METTL3-mediated m⁶A modification, serving as a promising prognostic biomarker and therapeutic target.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":" ","pages":"213-223"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148267549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A comprehensive analysis of the impact of low AMH on ART outcomes in young patients.","authors":"Asena Ayar Madenli, Gonul Ozer, Sevinc Ozmen","doi":"10.5603/ep.108916","DOIUrl":"10.5603/ep.108916","url":null,"abstract":"<p><strong>Introduction: </strong>The aim of the study was to investigate the value of anti-Müllerian hormone (AMH) as a predictor of implantation and/or clinical pregnancy rate per started intracytoplasmic sperm injection (ICSI) cycle in a young patient population with decreased versus normal ovarian reserve.</p><p><strong>Material and methods: </strong>This retrospective case-control cohort study utilized data extracted from participants' electronic medical records. Patients were subsequently grouped into AMH < 1.1 [decreased ovarian reserve group (DOR)] and AMH ≥ 1.1 [normal ovarian reserve group (NOR)]. The groups were organized to be age-compatible to evaluate specifically the role of AMH in the outcomes. Prediction performance was examined with receiver operating characteristic (ROC) curves.</p><p><strong>Results: </strong>A total of 716 women were analyzed, including 298 (41.6%) with diminished ovarian reserve (DOR) and 418 age-matched women with normal ovarian reserve (NOR) serving as controls (58.4%). AMH levels below 1.1 ng/mL and 0.47 ng/mL were associated with an increased likelihood of embryo transfer (ET) cancellation. Among women who proceeded to ET, higher AMH levels were associated with positive implantation (all p < 0.001). An AMH cut-off value of ≥ 1.1 ng/mL significantly predicted clinical pregnancy and live birth, and overall AMH levels were significantly higher in women who achieved ET, implantation, clinical pregnancy, and live birth than in those who did not (all p < 0.001).</p><p><strong>Conclusions: </strong>Higher AMH levels were associated with better ET, implantation, and clinical pregnancy, especially in NOR patients; however, we also showed that the rates of pregnancy outcomes after the development of a transferable embryo in younger cases are similar to those in cases with NOR. Low but not severely diminished AMH levels in young patients may not necessarily indicate poor oocyte quality.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":" ","pages":"29-36"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146230229","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Do GLP-1 receptor agonists improve insulin sensitivity and reduce lipid accumulation in skeletal muscles and the liver independent of weight loss?","authors":"Adrian Kołakowski, Monika Karczewska-Kupczewska","doi":"10.5603/ep.107227","DOIUrl":"10.5603/ep.107227","url":null,"abstract":"<p><p>Increased body mass index and excessive lipid accumulation are associated with enhanced production of toxic lipid species and impairedoxidation of free fatty acids (FFAs), a phenomenon defined as lipotoxicity. It is an important predictor of etabolic disorders such astype 2 diabetes (T2D). Increased lipid accumulation leads to decreased glucose uptake in skeletal muscle and enhanced hepatic glucoseproduction. Thus, ectopic fat accumulation impairs insulin signalling and decreases insulin sensitivity (IS). Scientific data demonstratethat glucagon-like peptide-1 receptor agonists (GLP-1 RAs) can improve IS and decrease lipid accumulation in peripheral tissues mainlythrough weight loss. However, experimental studies indicate that GLP-1 RAs exert direct effects on glucose and lipid metabolic pathways,although the precise mechanisms remain incompletely understood. GLP-1 RAs may directly modulate fatty acid β-oxidation, lipogenesis,and 5'-AMP-activated protein kinase (AMPK) phosphorylation. In this review, we discuss the mechanisms by which liraglutide and subcutaneoussemaglutide affect IS and lipid accumulation in key insulin-responsive tissues.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":" ","pages":"134-146"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147870953","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Analysis of the effect of recombinant human growth hormone therapy on metabolic parameters in patients with severe growth hormone deficiency in adulthood.","authors":"Zuzanna Żak-Skryśkiewicz, Lukasz Dzialach, Przemysław Witek","doi":"10.5603/ep.110442","DOIUrl":"10.5603/ep.110442","url":null,"abstract":"<p><strong>Introduction: </strong>Severe growth hormone deficiency (GHD) in adults is associated with unfavorable metabolic disturbances and adversechanges in body composition, contributing to increased cardiovascular risk and impaired quality of life. Although recombinant humangrowth hormone (rhGH) replacement therapy is an established treatment, data reflecting its effects under real-world clinical conditionsin Poland remain limited.</p><p><strong>Material and methods: </strong>This retrospective, real-world study included adult patients with severe GHD treated with rhGH within the nationaldrug program at a single tertiary endocrine center. Serum insulin-like growth factor 1 (IGF-1), lipid profile, glycemic parameters,and body composition assessed by bioelectrical impedance analysis were evaluated at baseline, after 6 and 12 months of therapy, and atthe last follow-up.</p><p><strong>Results: </strong>Recombinant human GH therapy was associated with a sustained increase in serum IGF-1 concentrations throughout the observationperiod. Treatment was accompanied by a reduction in total cholesterol and low-density lipoprotein cholesterol levels, while norelevant changes were observed in high-density lipoprotein cholesterol, triglycerides, or glycated hemoglobin. After 12 months of therapy,a decrease in total fat mass and body fat percentage was observed, along with an increase in relative muscle mass. Favorable regionalchanges in body composition involved the trunk as well as upper and lower limbs. No meaningful changes were detected in absolutemuscle mass, bone mass, or total body water.</p><p><strong>Conclusions: </strong>In adults with severe GHD, rhGH replacement therapy administered under routine clinical practice conditions is associated with beneficial changes in lipid profile and favorable body recomposition, characterized by reduced adiposity and increased relative muscle mass. These findings support the effectiveness of long-term, individualized rhGH therapy in adult patients with GHD.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":" ","pages":"172-181"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148038748","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypercalcemia in hospitalized patients: prevalence, etiology and mortality predictors in a tertiary internal medicine ward.","authors":"Ertunç Şimdi, Mehmet Uzunlulu, Erhan Eken, İlksen Gönenç Komutan, Uğur Gökçe, Fatma Bayır Yetkin, Ekin Koç, Merve Gülin Yener, Bünyamin Akça, Aylin Gedik, Furkan Bal, Maher El Janabi","doi":"10.5603/ep.108400","DOIUrl":"10.5603/ep.108400","url":null,"abstract":"<p><strong>Introduction: </strong>Hypercalcemia is a potentially life-threatening electrolyte disorder with diverse etiologies and clinical manifestations, frequently encountered in hospitalized patients. Understanding its prevalence, causes, and associated outcomes in the inpatient setting is crucial for improving patient management and prognosis. The objectives were to determine the prevalence, etiological distribution, clinical and demographic characteristics, comorbidities, laboratory features, and mortality risk factors of hypercalcemia among patients admitted to an internal medicine clinic in a tertiary university hospital.</p><p><strong>Material and methods: </strong>This retrospective, observational cohort study included adults (≥ 18 years) hospitalized with hypercalcemia (corrected calcium ≥ 10.2 mg/dL, confirmed twice at least 24 hours apart) between January 2022 and January 2024. Hypercalcemia severity was classified as mild, moderate, or severe. Etiological categories included malignancy-associated, endocrine-related, vitamin D-mediated, other, and undetermined. Demographics, comorbidities, laboratory parameters, treatments, and outcomes were recorded. Univariate and multivariate analyses were performed to identify mortality risk factors.</p><p><strong>Results: </strong>Among 3,157 admissions, 190 patients (prevalence 6%) had confirmed persistent hypercalcemia (mean age 72.3 ± 13.1 years; 61.6% female). Malignancy was the leading cause (49.5%), followed by other causes (24.7%), undetermined (15.8%), endocrine (8.4%), and vitamin D-mediated (1.6%). Severe hypercalcemia (11.6%) was predominantly associated with malignancy. Overall in-hospital mortality was 24.2%, with male sex, malignancy, solid tumors, elevated aspartate aminotransferase (AST), hypoalbuminemia, and age 65-80 years independently associated with mortality. Survival was significantly worse in malignancy-related cases. The optimal parathyroid hormone (PTH) threshold for predicting malignancy was identified as ≤ 12.61 pg/mL. This cut-off demonstrated a sensitivity of 71.4% and a specificity of 91.3%.</p><p><strong>Conclusions: </strong>Hypercalcemia in hospitalized patients is predominantly associated with malignancy and advanced age, and is linked with high mortality. Early identification of risk factors and etiology-driven management are critical for improving outcomes.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":" ","pages":"20-28"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146230394","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Eradicating hyperandrogenism? Hormonal changes following Helicobacter pylori eradication in women with polycystic ovary syndrome: an observational case series.","authors":"Joanna Wutke-Ostręga, Mateusz Szul, Dagmara Pluta","doi":"10.5603/ep.110428","DOIUrl":"10.5603/ep.110428","url":null,"abstract":"<p><strong>Introduction: </strong>Polycystic ovary syndrome (PCOS) is a heterogeneous endocrine disorder in which hyperandrogenism represents a centralpathophysiological feature. Increasing attention has been directed toward chronic inflammatory factors that may modulate androgenexcess. Helicobacter pylori (H. pylori) infection is a prevalent chronic bacterial infection associated with systemic low-grade inflammation.However, its potential relationship with androgen-related hormonal parameters in PCOS remains poorly explored.</p><p><strong>Material and methods: </strong>This observational mini case series included seven women with PCOS diagnosed according to the Rotterdam criteriaand confirmed active H. pylori infection. Hormonal parameters including total testosterone, androstenedione, dehydroepiandrosteronesulfate (DHEAS), sex hormone-binding globulin (SHBG), anti-Müllerian hormone (AMH), and free androgen index (FAI) were assessedduring active infection and after confirmed eradication. No hormonal contraception, antiandrogens, metformin, incretin-based therapies,or inositol supplements were used during the study period.</p><p><strong>Results: </strong>Following successful H. pylori eradication, consistent changes in androgen-related parameters were observed. Median DHEAS,androstenedione, and total testosterone concentrations decreased, while SHBG levels increased. Consequently, the free androgen indexdecreased in all patients. AMH levels showed a downward trend after eradication. Due to the descriptive nature of the study, no inferentialstatistical analyses were performed.</p><p><strong>Conclusions: </strong>In this observational case series, H. pylori eradication was associated with coherent changes in androgen-related hormonal parameters and reduced androgen bioavailability in women with PCOS. Although causality cannot be established, these findings suggestthat chronic infection-related inflammation may influence the androgenic milieu in PCOS.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"77 2","pages":"107-111"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147792825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Are we thinking of the rare causes of osteoporosis?","authors":"Maja Radman, Deša Tešanović Perković, Lucia Šuša, Sanda Tešanović","doi":"10.5603/ep.112464","DOIUrl":"https://doi.org/10.5603/ep.112464","url":null,"abstract":"","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"77 4","pages":"396-397"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148809623","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}