Endokrynologia Polska最新文献

{"title":"Aggressive craniopharyngioma with problematic course.","authors":"Miłosz Chwiałkowski, Grzegorz Zieliński","doi":"10.5603/ep.103701","DOIUrl":"https://doi.org/10.5603/ep.103701","url":null,"abstract":"<p><p>Not required for Clinical Vignette.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143665687","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":"The relationship between mild autonomous cortisol secretion and metabolic diseases in cases with adrenal incidentaloma.","authors":"Beril Turan Erdogan, Berna Evranos Ogmen, Muhammed Sacikara, Cevdet Aydin, Oya Topaloglu, Reyhan Ersoy, Bekir Cakir","doi":"10.5603/ep.102786","DOIUrl":"https://doi.org/10.5603/ep.102786","url":null,"abstract":"<p><strong>Introduction: </strong>This study investigates the link between mild autonomous cortisol secretion (MACS) in adrenal incidentaloma (AI) patients and the occurrence and severity of cardiovascular and metabolic comorbidities. It aims to provide a detailed overview of this relationship, highlight gaps in current research, and propose directions for future studies.</p><p><strong>Material and methods: </strong>We conducted a retrospective analysis at Ankara City Hospital's Endocrine Department outpatient clinic, reviewing 627 AI patients from February 2019 to May 2021. The study involved a detailed analysis of clinical records, hormonal evaluations, and imaging, focusing on differentiating MACS from non-functioning adrenal incidentalomas (NFAI) and examining the impact of MACS on associated health conditions.</p><p><strong>Results: </strong>The study found that MACS patients had a statistically higher incidence of diabetes mellitus (35% vs. 20%), hypertension (60% vs. 45%), hyperlipidaemia (40% vs. 25%), and coronary artery disease (30% vs. 15%) compared to the NFAI group. Independent predictors of MACS included the presence of bilateral adrenal masses, larger adrenal mass diameter (with a cutoff value of ≥ 18.5 mm, showing 83% sensitivity and 56% specificity for predicting MACS, and lower dehydroepiandrosterone sulphate (DHEAS) levels (≤ 49.31 μg/dL predicting MACS, with 61% sensitivity and 73% specificity).</p><p><strong>Conclusion: </strong>This research underscores the critical clinical implications of detecting MACS in AI patients, particularly its association with increased cardiovascular and metabolic risks. It calls for vigilant screening and a comprehensive management approach for affected patients. Additionally, the findings highlight the need for further studies to improve patient care and outcomes in this population.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143665616","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":"How to use properly the POL-RISK algorithm developed for 10-year prediction of osteoporotic fractures in daily practice.","authors":"Wojciech Pluskiewicz, Piotr Adamczyk, Bogna Drozdzowska","doi":"10.5603/ep.103617","DOIUrl":"https://doi.org/10.5603/ep.103617","url":null,"abstract":"<p><strong>Introduction: </strong>Osteoporosis is one of the most common diseases in elderly subjects. Accurate assessment of fracture risk is essential in the management of osteoporotic patients. The aim of the study was to present the optimal manner of using a method designed for fracture risk prediction, e.g. POL-RISK, in daily practice.</p><p><strong>Material and methods: </strong>Methods for fracture prediction were presented, especially those which allow easy and quick online assessment. In addition to true medical aspect, e.g. the ability to accurately detect high fracture risk patients who need therapy, the economic aspects were also presented. Due to the enormous number of osteoporotic patients the therapy should be indicated mainly in patients with high fracture risk. The optimal threshold of fracture risk for the initiation of reimbursed therapy should be established as a compromise of prior established medical threshold and economic aspects. The expected endpoint is the reduction of new fractures noted in longitudinal observation.</p><p><strong>Conclusion: </strong>Implementation of the described scenario should enable the development of the optimal model of care in osteoporotic subjects. Broad use of fracture risk thresholds to initiate reimbursed therapy, encompassing both true medical and economic aspects, should result in the reduction of osteoporotic fractures and decrease overall osteoporosis-related costs to the healthcare system.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"76 1","pages":"82-85"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607384","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":"Advances in imaging examination of bone density and bone quality.","authors":"Junyan Li, BiYan She, MingLi He, Chuyue Yuan, Na Li","doi":"10.5603/ep.100805","DOIUrl":"https://doi.org/10.5603/ep.100805","url":null,"abstract":"<p><p>Bone mineral density is the primary basis for the diagnosis of osteoporosis. Bone mineral density measurement methods include dual-energy X-ray (DXA) and quantitative computed tomography (QCT). Based on traditional bone density detection equipment, the newly developed imaging detection technology can further detect the microstructures and geometric features of bones, providing important reference for exploring the pathophysiological changes, sensitive clinical diagnosis, and disease monitoring of osteoporosis.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"76 1","pages":"29-39"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607357","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":"Antibodies against the receptor for insulin-like growth factor 1 (IGF-1RAb), insulin-like growth factor 1 (IGF-1), and insulin-like growth factor binding protein 3 (IGFBP-3) in the serum of patients with Graves' and Basedow's disease with and without orbitopathy.","authors":"Mariusz Nowak, Tomasz Wielkoszyński, Magdalena Londzin-Olesik, Wojciech Nowak, Bogdan Marek, Beata Kos-Kudła, Lucyna Siemińska, Joanna Głogowska-Szeląg, Dariusz Kajdaniuk, Jacek Karpe","doi":"10.5603/ep.102336","DOIUrl":"https://doi.org/10.5603/ep.102336","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Introduction: &lt;/strong&gt;Proven risk factors for thyroid orbitopathy (TO) are thyroid dysfunction, smoking, and high levels of thyrotropin receptor antibodies (TRAb), and the role of insulin-like growth factor 1 (IGF-1), the receptor for IGF-1 (IGF-1R), and antibodies to the receptor for IGF-1 (IGF-1RAb) are also debated. IGF-1R is overexpressed in fibroblasts and orbital lymphocytes in TO patients. It forms a functional complex and mediates signal transduction through thyroid stimulating hormone receptor (TSHR). The study aimed to evaluate the levels of IGF-1RAb, IGF-1, and IGFBP-3 in a group of Graves' and Basedow's disease (GBD) patients with or without TO.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Material and methods: &lt;/strong&gt;Sixty-seven patients were included in the study, including 47 GBD and 20 control patients. In the GBD group, 31 patients were diagnosed with active TO and were treated with immunosuppressive therapy according to the standard of European Group on Graves' Orbitopathy (EUGOGO) guidelines. In this group, 10 patients were in the sight-threatening stage of TO severity according to EUGOGO classification. IGF-1 and IGFBP-3 levels were determined with the use of chemiluminescence immunoassay (CLIA) methods. IGF-1RAb was measured by the \"in-house\" constructed enzyme-linked immunosorbent assay (ELISA) method.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Including our cut-off value (Q75 - 232.48 ng/mL), positive serum IGF-1RAb was found in 25% of patients in the control group (5 out of 20 patients), in 38.3 % (18 out of 47 patients) of patients with GBD, and in 22.5% of GBD patients with active TO (7 out of 31 patients). In GBD patients with active TO, there were no differences in IGF-1RAb when compared to the control group but with a significantly lower level when compared to the GBD patients without active TO. The group of patients with active TO in the sight-threatening stage had significantly lower values of IGF-1RAb compared to the group of patients with GBD without the presence of TO (p = 0.004). There was also a difference in IGF-1RAb concentration between the groups in moderate-to-severe and sight-threatening stages of TO before starting immunosuppressive treatment (p = 0.014). There was no difference in IGF-1 levels between the control group and GBD patients with active TO before starting immunosuppressive treatment and GBD patients without active TO. The was a significant difference in IGF-1 concentration between the group with moderate-to-severe and sight-threatening stages of TO before starting immunosuppressive treatment (p = 0.009). We found significantly lower IGFBP-3 concentrations in GBD patients regardless of the presence of TO compared to the control group (p = 0.016). There was no difference in IGFBP-3 concentrations between patients with moderate-to-severe and sight-threatening stages of TO (p = 0.203).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;It seems that high IGF-1RAb levels may have a protective effect against the onset or severe course of TO,","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"76 1","pages":"40-51"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607360","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":"Framework guidelines for the process of caring for the health of adolescent transgender (T) and non-binary (NB) people experiencing gender dysphoria - the position statement of the expert panel.","authors":"Aneta Gawlik-Starzyk, Marta Dora, Dorota Baran, Łukasz Szostakiewicz, Małgorzata Trofimiuk-Müldner, Łukasz Müldner-Nieckowski, Agnieszka Bielska-Brodziak, Milena Adamczewska-Stachura, Aleksandra Antosz, Katarzyna Bajszczak, Ewa Barg, Barbara Barteczka-Eckert, Aleksandra Chodecka, Lena Cichoń, Ewa Dobiała, Agnieszka Drosdzol-Cop, Izabela Fornalik, Justyna Holka-Pokorska, Grzegorz Iniewicz, Tomasz Jakubowski, Małgorzata Janas-Kozik, Karina Kapczuk, Julia Kata, Tomasz Koszutski, Grzegorz Kudela, Joanna Ławicka, Anna Mazurczak, Magdalena Mijas, Magdalena Nowacka, Beata Pastwa-Wojciechowska, Katarzyna Pilarczyk-Parchanowicz, Paulina Pilch, Maciej Pilecki, Dominik Rachoń, Barbara Remberk, Violetta Skrzypulec-Plinta, Jagoda Sikora, Sylwia Stankiewicz, Maria Szarras-Czapnik, Marta Szymańska-Pytlińska, Mieczysław Walczak, Krzysztof Wilczyński, Beata Wróbel, Bartosz Grabski","doi":"10.5603/ep.104289","DOIUrl":"https://doi.org/10.5603/ep.104289","url":null,"abstract":"<p><p>This article presents framework guidelines for the care of adolescent transgender (T) and non-binary (NB) individuals experiencing gender dysphoria (GD) and/or gender incongruence (GI). Developed by a multidisciplinary expert panel, these guidelines aim to address the complex medical, psychological, and social needs of this diverse population. The document emphasises the importance of individualised, affirmative care that respects the autonomy, identity, and rights of adolescents. It outlines best practices for psychiatric, psychological, and sexological assessment; criteria and protocols for gender-affirming hormonal interventions (GAHI) and puberty suppression; and ethical considerations for medical decision-making. The guidelines advocate for comprehensive support systems, including family involvement and multidisciplinary team collaboration, while addressing co-occurring mental health conditions and neurodiversity. The article also highlights global perspectives on gender-affirming care, comparing practices and policies across countries to provide a contextualised approach that aligns with international standards while addressing local legal and healthcare frameworks. The proposed care model is designed to enhance the mental and physical well-being of adolescents, reduce stigma, and improve their overall quality of life. This work serves as a vital resource for healthcare professionals, policymakers, and advocates seeking to advance equitable, effective, and compassionate care for gender-diverse youths.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"76 1","pages":"1-28"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607372","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":"Using non-invasive indicators to screen the PCOS population for liver disease - a single-centre study.","authors":"Maciej Migacz, Dagmara Pluta, Kamil Barański, Bartosz Krajewski, Paweł Madej, Michał Holecki","doi":"10.5603/ep.101901","DOIUrl":"https://doi.org/10.5603/ep.101901","url":null,"abstract":"<p><strong>Introduction: </strong>Studies show an association between polycystic ovary syndrome (PCOS) and an increased incidence of metabolic dysfunction-associated steatotic liver disease (MASLD) in this patient group. Diagnostic tools that can screen relevant groups of PCOS' patients for liver disease are still being sought.</p><p><strong>Material and methods: </strong>Our study included 242 patients with PCOS diagnosed on the basis of the Rotterdam criteria, which we divided according to phenotypes. Using the Fibrosis-4 (FIB-4) and BAAT (BMI, age, ALT, triglycerides) calculators, we conducted screening for liver disease in each group of patients. In addition, we compared the results of anthropometric measurements, androgen serum levels, and Homeostatic Model Assessment - Insulin Resistance (HOMA-IR) index in each group.</p><p><strong>Results: </strong>The values of the FIB-4 and BAAT indices in this study are small regardless of phenotype. A notably significant difference in FIB-4 was found only between phenotypes A and B (p = 0.01). The median of the FIB-4 index among patients with phenotype B was Me:-0.51; interquartile range (IQR): 0.22. The median of FIB-4 index among patients with phenotype A was Me: -0.41; IQR: 0.18. The groups of PCOS patients divided by phenotypes based on the BAAT index are similar, a difference that was statistically insignificant (p = 0.3). The lowest levels of insulin were noted in phenotype C, and it was significantly different from levels of insulin in phenotype B. The multiple comparisons for levels of glucose and HOMA-IR were not significantly different.</p><p><strong>Conclusions: </strong>The probability of liver fibrosis in the PCOS patients examined on the basis of both the FIB-4 and BAAT indices is low, which is probably due to the young age of the subjects. Higher FIB-4 index results were obtained in the group of patients with phenotype B compared to the group with phenotype A, and the group with phenotype B was similar to the groups with phenotype C and D. Moreover, based on our results, we demonstrated lower level of insulin in phenotype C compared to the group with phenotype B. The BAAT index result proved to be statistically insignificant in the studied patients, with a breakdown by PCOS phenotype.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"76 1","pages":"94-99"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607399","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":"Fracture risk assessment based on FRAX scores and Polish guidelines in patients with newly diagnosed osteopaenia.","authors":"Karol Cieślak, Marta Michalska-Kasiczak, Katarzyna Płoszka, Michał Stuss, Ewa Sewerynek","doi":"10.5603/ep.103468","DOIUrl":"https://doi.org/10.5603/ep.103468","url":null,"abstract":"<p><strong>Introduction: </strong>A densitometric diagnosis of osteoporosis qualifies patients to a diagnostic-therapeutic process, but densitometric evaluation may not be sufficient for osteopaenic patients. Therefore, it is essential to assess osteoporosis risk factors, fracture history, and 10-year fracture risk, and classify patients into low-, medium-, high-, or very high-risk categories. In our study, we aimed to assess the risk of fractures in patients with newly diagnosed osteopaenia and determine the percentage of patients at high and very high risk of fracture.</p><p><strong>Material and methods: </strong>The study included 89 postmenopausal women with newly diagnosed osteopaenia as determined by a T-score of the femoral neck and/or lumbar spine from dual-energy X-ray absorptiometry (DXA) scans between -1.0 and -2.5 standard deviations (SD). Demographic data and laboratory tests were collected. Additionally, based on the Fracture Risk Assessment Tool (FRAX-PL) calculator including bone mineral density (BMD), 10-year fracture risk was calculated for major osteoporotic fractures (FRAX MOF) and hip fractures (FRAX HF). Each patient was then classified into particular risk groups based on FRAX and modified fracture risk assessment criteria.</p><p><strong>Results: </strong>Our study found the most common risk factors to be glucocorticoid intake (47.19%), parental hip fracture (46.07%), and smoking (39.33%). In the general population, 56.6% of subjects had at least one fracture in adulthood. The FRAX calculator showed that 39.33% of the patients had a very high risk of HF and 34.83% had a very high risk of major osteoporotic fractures (MOF). A high fracture risk for hip fractures (HF) and MOF was noted in 11.24% and 40.45% of the patients, whereas a medium and low risk of MOF was seen in 17.98% and 6.74%, respectively. Significantly more subjects (53.93%) had been classified as being at very high risk of fracture, based on the expanded criteria than on the basis of FRAX alone. Of these, 48.31% met the criteria of FRAX > 15% for MOF or > 4.5% for HF, and 7.87% had multiple (≥ 2) major fractures. Women aged 70-75 years were at the highest risk of fracture.</p><p><strong>Conclusions: </strong>Our findings highlight the importance of categorising fracture risk in osteopaenic patients, and show that the number of patients at very high fracture risk increases when the expanded criteria from the latest Polish guidelines are applied.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"76 1","pages":"66-73"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607365","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":"4-phenylbutyric acid attenuates diabetes mellitus secondary to thiamine-responsive megaloblastic anaemia syndrome by modulating endoplasmic reticulum stress.","authors":"Yumei Qin, Xuan Zhang, Yuping Ye, Min Chen, Yuanyuan Qin, Faquan Lin","doi":"10.5603/ep.101404","DOIUrl":"https://doi.org/10.5603/ep.101404","url":null,"abstract":"<p><strong>Introduction: </strong>Thiamine-responsive megaloblastic anaemia syndrome (TRMA) is a rare genetic disease caused by mutations in the SLC19A2 gene that encodes thiamine transporter 1 (THTR-1). The common manifestations are diabetes, anaemia, and deafness. The pathogenic mechanism has not yet been clarified.</p><p><strong>Material and methods: </strong>Rat pancreatic islet tumour cells INS.1 were used to construct cell lines stably overexpressing wild-type SLC19A2 and SLC19A2 (c.1409insT) mutants. The mRNA and protein expressions of THTR-1 and endoplasmic reticulum stress (ERS)-associated factors were detected by real-time fluorescence quantitative polymerase chain reaction (PCR) and western blot methods, respectively. Flow cytometry and cell counting kit-8 were used to analyse the effects of SLC19A2 (c.1409insT) mutation on cell apoptosis and proliferation, respectively. 4-Phenylbutyric acid (4-PBA), an ERS inhibitor, was administered to SLC19A2 (c.1409insT)-mutated INS.1 cells, and then the mRNA and protein expressions of ERS-related factors in cells were detected.</p><p><strong>Results: </strong>Mutations in the SLC19A2 (c.1409insT) promote apoptosis and inhibit cell proliferation, thereby upregulating the mRNA and protein levels of ERS-associated factors glucose-regulated protein 78, protein kinase R-like endoplasmic reticulum kinase, C/EBP homologous protein, and activating transcription factor 4. 4-PBA could inhibit ERS caused by SLC19A2 (c.1409insT) mutations, downregulate mRNA and protein expression levels of GRP78, CHOP, and phosphorylated eukaryotic initiation factor 2α, and protect pancreatic islet β-cells.</p><p><strong>Conclusion: </strong>THTR-1 deficiency triggers diabetes in TRMA patients through ERS, and 4-PBA protects pancreatic islet β-cells by inhibiting ERS, which provides new ideas and intervention targets for the prevention and treatment of TRMA and diabetes.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"76 1","pages":"108-115"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607353","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":"Genetic and functional analysis of TUBB1 variants in congenital hypothyroidism.","authors":"Fang Wang, Chunhui Sun, Yangang Wang, Fengqi Wang, Shiguo Liu, Miaomiao Li","doi":"10.5603/ep.101416","DOIUrl":"https://doi.org/10.5603/ep.101416","url":null,"abstract":"<p><strong>Background: </strong>Congenital hypothyroidism (CH) is the most common neonatal disorder, primarily caused by thyroid dysgenesis (TD). While the genetic cause has been identified in less than 5% of TD cases, there is an urgent need to investigate additional gene mutations that may be responsible. In 2018, TUBB1 was identified as a novel candidate gene associated with TD. Nevertheless, further research is required to confirm the role of TUBB1 in TD pathogenesis and the association between TUBB1 mutations and TD in humans. Based on the previous genetic analysis of TUBB1 in 289 Chinese TD patients, this study aimed to further validate the association between TUBB1 and TD, and to explore the pathogenic mechanisms of TUBB1 c.952C>T at the cellular level.</p><p><strong>Material and methods: </strong>We performed real-time polymerase chain reaction (RT-PCR), western blot, Cell Counting Kit 8 (CCK8), and wound healing assay to evaluate the effect of TUBB1 c.952C>T on gene expression, cell proliferation, and migration.</p><p><strong>Results: </strong>The c.952C>T mutant decreased the expression of TUBB1 in both mRNA and protein level, and inhibited the proliferation of thyroid cells significantly. Also, c.952C>T mutant showed restrain effects on the migration, although there was no stistical significance. Notably, pathogenic TUBB1 variants were not detected in patients with dyshormonogenesis (DH).</p><p><strong>Conclusions: </strong>TUBB1 variants confer genetic susceptibility to TD but not DH. The pathogenic variant in TUBB1 was identified in 1.38% (4/289) of our Chinese TD patient cohort, and burden test analysis revealed an association between TUBB1 variants and TD. Functional experimental results indicated that the c.952C>T mutant dominantly affects gene expression and proliferation of thyroid cells.</p>","PeriodicalId":93990,"journal":{"name":"Endokrynologia Polska","volume":"76 1","pages":"52-58"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143607380","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}