Endokrynologia Polska[JOURNAL]
Sun
200 papers
Long non-coding RNA MIR22HG impedes the progression of anaplastic thyroid carcinoma via targeting miR-141-3p/PTEN/AKT axis.
Cao J, Jiang P, Jiang S … +5 more , Zhao Y, Jiang X, Zhou C, Li J, Yang K
Endokrynol Pol · 2025 · PMID 40331835 · Publisher ↗
INTRODUCTION: Anaplastic thyroid carcinoma (ATC) is one of the most aggressive and lethal malignancies. The MiR-22 host gene (MIR22HG) has been identified as a novel long non-coding RNA (lncRNA) in a few types of cancer....
INTRODUCTION: Anaplastic thyroid carcinoma (ATC) is one of the most aggressive and lethal malignancies. The MiR-22 host gene (MIR22HG) has been identified as a novel long non-coding RNA (lncRNA) in a few types of cancer. Nevertheless, little is known about the potential role of MIR22HG in ATC. In this study, we aimed to investigate the biological functions and underlying molecular mechanisms of MIR22HG in ATC. MATERIAL AND METHODS: The expression of MIR22HG in tissues and cells of ATC were detected by quantitative real-time polymerase chain reaction (qRT-PCR). The cell viabilities and invasive abilities were evaluated by 3-[4,5-dimethylthiazol-2-yl]-2,5-diphenyltetrazolium bromide (MTT) assay, wound healing assay, and Matrigel invasion assay. The mechanism of MIR22HG interacting with microRNA-141-3p (miR-141-3p) was measured by RNA immunoprecipitation (RIP) assay, RNA pull-down assay, and dual-luciferase reporter assay. RESULTS: MIR22HG was downregulated in ATC tissues and cells. More importantly, decreased expression of MIR22HG was found to be correlated with poor prognosis of ATC patients. Functional analysis showed that overexpression of MIR22HG attenuated the proliferation and metastasis of ATC both in vitro and in vivo. Mechanistically, MIR22HG positively modulated phosphatase and tensin homolog deleted on chromosome ten (PTEN) expression via sponging miR-141-3p, thus inhibiting downstream protein kinase B (AKT) signaling cascade. CONCLUSIONS: MIR22HG serves as a tumor suppressor in ATC and impedes the progression of ATC through regulation of miR-141-3p/PTEN/AKT axis. Our findings illustrate the critical role of the MIR22HG/miR-141-3p/PTEN/AKT axis in the progression of ATC, which offers new insights for the therapeutic strategies of ATC.
Lublin Comorbidity of Adiposity Study (LUCAS 1.0 BMI) - quantifying the success of a region-wide overweight and obesity treatment program: a retrospective real‑world data analysis.
Lenart-Lipińska M, Gołacki J, Wronecki J … +1 more , Matyjaszek-Matuszek B
Endokrynol Pol · 2025 · PMID 40331834 · Publisher ↗
INTRODUCTION: Obesity has emerged as a global health epidemic, which carries significant implications for both individual health and healthcare systems worldwide. Numerous reports have shown the health advantages associa...
INTRODUCTION: Obesity has emerged as a global health epidemic, which carries significant implications for both individual health and healthcare systems worldwide. Numerous reports have shown the health advantages associated with a 5-10% reduction of one's initial body weight, but it remains unclear whether the data from clinical trials translate to real-world clinical practice. In our retrospective analysis, we evaluated the effectiveness of a multifactorial obesity treatment, including pharmacotherapy, in Polish conditions. The objective was to assess the efficacy of this multimodal treatment in achieving a 5-10% weight reduction over 3-6 months. MATERIAL AND METHODS: The patient cohort included 1114 adults: 243 (22%) men and 871 (78%) women, aged 16-80 years, diagnosed with obesity and overweight in a team-based obesity treatment program with one-day-stay admissions. Each patient underwent a tailored multifactorial obesity treatment regimen, which incorporated dietary adjustments, physical activity, psychological support, and pharmacotherapy. RESULTS: Weight reduction was observed in 868 (78%) patients. Of these, 635 (57%) achieved a 5% weight reduction, and 379 (34%) achieved a 10% reduction. No significant gender differences were found in weight reduction. Unlike clinical trials, weight reduction was similar between those receiving only behavioral treatment and those also on medication. The profile of a good responder in real-world conditions included high adherence to recommendations and follow-up visits, and absence of type 2 diabetes. CONCLUSIONS: Our study demonstrates that obesity can be effectively managed through individualized multimodal treatment. Nonetheless, this process demands sustained effort and necessitates individualized therapy overseen by a multidisciplinary therapeutic team.
Aggressive craniopharyngioma with problematic course.
Chwiałkowski M, Zieliński G
Endokrynol Pol · 2025 · PMID 40110609 · Publisher ↗
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The relationship between mild autonomous cortisol secretion and metabolic diseases in cases with adrenal incidentaloma.
Turan Erdogan B, Evranos Ogmen B, Sacikara M … +4 more , Aydin C, Topaloglu O, Ersoy R, Cakir B
Endokrynol Pol · 2025 · PMID 40110608 · Publisher ↗
INTRODUCTION: 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 ai...
INTRODUCTION: 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. MATERIAL AND METHODS: 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. RESULTS: 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). CONCLUSION: 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.
Improving outcomes in anaplastic thyroid carcinoma: surgical strategies and neoadjuvant therapy.
Kwiatkowska N, Nieto C, Cirera A … +7 more , Chabla J, Arroyo N, Pañella C, Iglesias C, Ciscar A, Zafon C, Vilallonga R
Endokrynol Pol · 2025 · PMID 40071809 · Publisher ↗
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PCSK9/LOX-1 is associated with T2DM and regulates high glucose-induced lipid metabolism dysfunction in human microvascular endothelial cells.
Yao Y, Liu H
Endokrynol Pol · 2025 · PMID 40071808 · Publisher ↗
INTRODUCTION: The proprotein convertase subtilisin/kexin type 9/lectin-like oxidized low-density lipoprotein receptor-1 (PCSK9/LOX-1) axis plays a crucial role in regulating vascular endothelial cell function, but its sp...
INTRODUCTION: The proprotein convertase subtilisin/kexin type 9/lectin-like oxidized low-density lipoprotein receptor-1 (PCSK9/LOX-1) axis plays a crucial role in regulating vascular endothelial cell function, but its specific involvement in type 2 diabetes mellitus (T2DM) remains unclear. This study aims to explore the potential mechanism of the PCSK9/LOX-1 axis in high-glucose (HG)-induced vascular endothelial cell dysfunction. MATERIAL AND METHODS: Peripheral blood samples were collected from T2DM patients to analyse the correlation between PCSK9 and blood lipid levels. Human microvascular endothelial cells (HMEC-1) exposed to high glucose concentration were used as a model of diabetic=angiopathy (DA). Levels of PCSK9, reactive oxygen species (ROS), malonodialdehyde (MDA), interleukins (IL): IL-6, IL-1β, superoxide dismutase (SOD), and tumour necrosis factor alpha (TNF-α) were determined by enzyme-linked immunosorbent assay (ELISA) and biochemical methods. Additionally, intracellular total cholesterol (TC) and cholesterol ester (CE) levels were detected using enzyme chemistry. Expression of PCSK9 and LOX-1 was assessed through real-time quantitative polymerase chain reaction (RT-qPCR) and western blotting. RESULTS: Compared to the normal group, PCSK9 levels were significantly elevated in T2DM patients. Furthermore, PCSK9 levels were found to be positively correlated with body mass index (BMI), waistline, triglyceride (TG), cholesterol, low-density lipoprotein cholesterol (LDL-C), glycated hemoglobin (HbAlc), and intracardiac fat pad levels in T2DM patients. HG exposure led to reduced activity of HMEC-1 cells, along with increased levels of apoptosis, oxidative stress, and inflammation, all of which were counteracted by si-PCSK9. The inhibitory effects of si-PCSK9 on LOX-1 expression, as well as TC and CE contents in HMEC-1 cells induced by HG, were observed. Moreover, intervention with oe-LOX-1 reversed the effects of si-PCSK9 in HG-induced HMEC-1 cells. CONCLUSION: Silencing of PCSK9 inhibited HG-induced inflammation, oxidative stress, and lipid metabolic dysfunction in HMEC-1 cells via LOX-1.
4-phenylbutyric acid attenuates diabetes mellitus secondary to thiamine-responsive megaloblastic anaemia syndrome by modulating endoplasmic reticulum stress.
Qin Y, Zhang X, Ye Y … +3 more , Chen M, Qin Y, Lin F
Endokrynol Pol · 2025 · PMID 40071807 · Publisher ↗
INTRODUCTION: 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 diabet...
INTRODUCTION: 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. MATERIAL AND METHODS: 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. RESULTS: 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. CONCLUSION: 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.
The effects of intragastric balloons on metabolic and inflammatory parameters in obese patients.
Wiewiora M, Kozłowski A, Świętochowska E … +3 more , Wiewiora H, Piecuch J, Piecuch J
Endokrynol Pol · 2025 · PMID 40071806 · Publisher ↗
INTRODUCTION: The prevalence of obesity worldwide has rapidly increased. One of the methods for treating obesity is endoscopic intragastric balloon (IGB) implantation. The aim of this study was to evaluate the effects of...
INTRODUCTION: The prevalence of obesity worldwide has rapidly increased. One of the methods for treating obesity is endoscopic intragastric balloon (IGB) implantation. The aim of this study was to evaluate the effects of carbohydrate homeostasis and select cytokines in obese patients with a body mass index (BMI) ≥ 40 kg/m². MATERIAL AND METHODS: We analysed 68 obese subjects who underwent IGB. There were 19 females and 49 males in the study, their ages ranged from 23-65 years, their weights were 169.04 ± 33 kg, and their BMIs were 54.81 ± 7.8 kg/m². We measured carbohydrate parameters, including glucose, insulin and Homeostatic Model Assessment - Insulin Resistance (HOMA-IR), and cytokines, such as growth differentiation factor 15 (GDF15), human zinc-alpha-2-glycoprotein (ZAGa2), tumour necrosis factor alpha (TNF-α), and tumour necrosis factor weak inducer of apoptosis (TNFSF12/TWEAK). All parameters were measured before and at 6 months after the IGB was removed. RESULTS: Anthropometric parameters and carbohydrate homeostasis significantly changed 6 months after IGB implantation. We found significant decreases in body weight (p < 0.0001), BMI (p < 0.0001), glucose levels (p < 0.0001), insulin concentration (p < 0.0001), and HOMA-IR (p < 0.0001), regardless of sex. After 6 months, GDF15 (p < 0.0001), ZAGa2 (p < 0.0001) and TNFα (p < 0.0001) levels decreased. In contrast, the TNFSF12/TWEAK concentration increased (p < 0.0001). There was no difference between women and men in any of the parameters. CONCLUSIONS: The results of this study indicate that IGB-induced weight loss leads to the normalization of metabolic parameters and inflammatory cytokines in obese individuals, regardless of sex.
Using non-invasive indicators to screen the PCOS population for liver disease - a single-centre study.
Migacz M, Pluta D, Barański K … +3 more , Krajewski B, Madej P, Holecki M
Endokrynol Pol · 2025 · PMID 40071805 · Publisher ↗
INTRODUCTION: 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 th...
INTRODUCTION: 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. MATERIAL AND METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
The costs of acromegaly management in Poland - analysis from one centre.
Elbaum M, Kałużny M, Jawiarczyk-Przybyłowska A … +3 more , Wojtczak B, Zembska A, Bolanowski M
Endokrynol Pol · 2025 · PMID 40071804 · Publisher ↗
INTRODUCTION: The analysis of the costs associated with treating acromegaly and its complications is important in planning diagnostics and treatment for a single patient, as well as in establishing the standard of care f...
INTRODUCTION: The analysis of the costs associated with treating acromegaly and its complications is important in planning diagnostics and treatment for a single patient, as well as in establishing the standard of care for the entire population of acromegaly patients. Data on the actual costs of treating patients with acromegaly in Poland are limited. AIMS OF THE STUDY: To determine the direct cost (hospital stays, diagnostic imaging, surgical treatment, pharmacotherapy, tumour irradiation) of treating patients with acromegaly and its complications, assessing the relationship between acromegaly treatment costs and the radical nature of the treatment. MATERIALS AND METHODS: A retrospective analysis of medical records was carried out in 124 patients with acromegaly who were hospitalised in the Department of Endocrinology in 2011-2016, including a group of 39 patients who were successfully operated on, 73 patients requiring treatment with a somatostatin analogue, and 12 patients with newly diagnosed disease. The costs of surgical procedures, hospitalisation, diagnostic tests, and the cost of pharmacological treatment of acromegaly and its complications were analysed and estimated based on the system of homogeneous groups of patients. RESULTS: The mean total annual cost of acromegaly treatment was PLN 43,419 (EUR 9731). The mean annual cost of treating patients undergoing effective neurosurgical treatment was lower than in the other groups, and the costs of pharmacological and surgical treatment of complications of acromegaly were also lower. The costs of hospitalisation and additional diagnostic tests were highest in patients with newly diagnosed acromegaly. CONCLUSIONS: Treatment with somatostatin analogues is the major cost factor in patients requiring chronic therapy. Effective radical neurosurgical treatment reduces the incidence of chronic complications of acromegaly and lowers the overall treatment costs.
How to use properly the POL-RISK algorithm developed for 10-year prediction of osteoporotic fractures in daily practice.
Pluskiewicz W, Adamczyk P, Drozdzowska B
Endokrynol Pol · 2025 · PMID 40071803 · Publisher ↗
INTRODUCTION: 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 opt...
INTRODUCTION: 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. MATERIAL AND METHODS: 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. CONCLUSION: 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.
Assessment of fracture risk based on FRAX score and Polish guidelines in patients with newly diagnosed osteoporosis.
Stępień-Kłos W, Michalska-Kasiczak M, Płoszka K … +2 more , Stuss M, Sewerynek E
Endokrynol Pol · 2025 · PMID 40071802 · Publisher ↗
INTRODUCTION: The authors of the latest recommendations state that osteoporosis diagnosis should not rely solely on densitometric (DXA) criteria. Fracture risk assessment is crucial for determining diagnosis and interven...
INTRODUCTION: The authors of the latest recommendations state that osteoporosis diagnosis should not rely solely on densitometric (DXA) criteria. Fracture risk assessment is crucial for determining diagnosis and intervention thresholds. Comprehensive assessment of fracture risk requires consideration of bone mineral density (BMD) results, use of risk calculators like Fracture Risk Assessment Tool (FRAXTM), and analysis of clinical and lifestyle factors. Experts highlight the need to identify patients at very high fracture risk to justify starting anabolic therapy. This retrospective study assessed fracture risk in newly diagnosed osteoporosis patients, identifying those at high and very high risk. MATERIAL AND METHODS: The study included 159 postmenopausal women with newly diagnosed osteoporosis, identified by a T-score of ≤ -2.5 standard deviations (SD) from DXA scans of the femoral neck and/or lumbar spine. Demographic data and laboratory tests were collected, and the 10-year fracture risk for major osteoporotic fractures (FRAX MOF) and hip fractures (FRAX HF) was calculated using the FRAX-PL calculator, which included femoral neck BMD. Each patient was then classified into a risk group based on modified fracture risk assessment criteria. RESULTS: The study found that the most common risk factor for osteoporosis was a previous fracture (56.6%). Other common risk factors included smoking (21.38%), parental hip fracture (13.21%), and glucocorticoid use (10.70%). The FRAX calculator showed that 47.80% of patients were at very high risk for HF and 23.90% for MOF. A high HF risk was present in 10.06% of patients, and high MOF risk in 34.59%, whereas a medium and low MOF risk concerned 25.79% and 15.72% of the subjects, respectively. With expanded criteria, 72.33% of patients were classified at very high risk, compared to 23.90% for MOF and 47.80% for HF based solely on FRAX. Most patients met the T-score ≤ -3.0 SD criterion (52.20%) and FRAX > 15% for MOF or FRAX > 4.5% for HF (52.20%). Women aged 65-70 and 70-75 years are at the highest risk and qualify for anabolic therapy. CONCLUSIONS: Our study highlights the importance of stratifying patients by fracture risk, showing that more individuals are identified at very high risk when using the expanded assessment criteria from the latest Polish guidelines.
Fracture risk assessment based on FRAX scores and Polish guidelines in patients with newly diagnosed osteopaenia.
Cieślak K, Michalska-Kasiczak M, Płoszka K … +2 more , Stuss M, Sewerynek E
Endokrynol Pol · 2025 · PMID 40071801 · Publisher ↗
INTRODUCTION: 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 a...
INTRODUCTION: 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. MATERIAL AND METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
Vitamin D deficiency is common among Polish children with newly diagnosed type 1 diabetes mellitus.
Klenczar-Kciuk KM, Seget S, Adamczyk P … +1 more , Jarosz-Chobot P
Endokrynol Pol · 2025 · PMID 40071800 · Publisher ↗
INTRODUCTION: In recent years, the prevalence of T1DM (type 1 diabetes mellitus) and other autoimmune diseases in the paediatric population has been increasing. The aim of this study was to evaluate vitamin D levels amon...
INTRODUCTION: In recent years, the prevalence of T1DM (type 1 diabetes mellitus) and other autoimmune diseases in the paediatric population has been increasing. The aim of this study was to evaluate vitamin D levels among children with newly diagnosed T1DM, taking into account the most common coexisting autoimmune conditions. MATERIAL AND METHODS: The database included 361 patients diagnosed with T1DM between 2020 and 2021, with a mean age of 9.27 ± 4.1 years, 189 boys. Auxological data and biochemical results of routinely performed tests were retrospectively analysed: blood pH and bicarbonate (HCO3-) on gasometry on admission, glycated haemoglobin (HbA1c), levels of antibodies against glutamic acid decarboxylase (GAD), antibodies against tyrosine phosphatase (IA2), antibodies against zinc transporters (ZnT8), 25-hydroxy vitamin D (25(OH)D), anti-IgA tissue transglutaminase antibodies (TTG-IgA), total IgA, levels of antibodies against thyroperoxidase (TPOAb), and antibodies against thyroglobulin (TgAb). RESULTS: 35.5% of children (n = 128) with T1D presented 25(OH)D deficiency (< 20 ng/mL), 37% (n = 134) had suboptimal levels (20-30 ng/mL), and 25% (n = 90) had optimal vitamin D levels (30-50 ng/mL). 25(OH)D values were inversely proportional to the severity of diabetic ketoacidosis (p < 0.01) and negatively correlated with HbA1c values (p < 0.05). 25(OH)D levels were also found to be negatively correlated with children's age at diagnosis (p < 0.001). Statistical analysis showed no association between 25(OH)D value and body mass index (BMI) Z-score or type of antibodies typical of T1D. There was also no statistically significant difference in vitamin D levels among patients with additional autoimmune processes (antibodies to thyroperoxidase and/or thyroglobulin and antibodies to tissue transglutaminase). CONCLUSIONS: More than one-third of Polish children with newly diagnosed T1D have 25(OH)D deficiency, especially in patients with diabetic ketoacidosis (DKA) at the diagnosis of diabetes. Determination of vitamin D levels should be a routine procedure in children with newly diagnosed T1DM.
Genetic and functional analysis of TUBB1 variants in congenital hypothyroidism.
Wang F, Sun C, Wang Y … +3 more , Wang F, Liu S, Li M
Endokrynol Pol · 2025 · PMID 40071799 · Publisher ↗
BACKGROUND: 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 ne...
BACKGROUND: 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. MATERIAL AND METHODS: 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. RESULTS: 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). CONCLUSIONS: 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.
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.
Nowak M, Wielkoszyński T, Londzin-Olesik M … +7 more , Nowak W, Marek B, Kos-Kudła B, Siemińska L, Głogowska-Szeląg J, Kajdaniuk D, Karpe J
Endokrynol Pol · 2025 · PMID 40071798 · Publisher ↗
INTRODUCTION: 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 recept...
INTRODUCTION: 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. MATERIAL AND METHODS: 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. RESULTS: 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). CONCLUSION: It seems that high IGF-1RAb levels may have a protective effect against the onset or severe course of TO, and patients with low IGF-1RAb levels are at risk for severe TO. Our results suggest that anti-receptor antibodies to IGF-1 are inhibitory antibodies.
Advances in imaging examination of bone density and bone quality.
Li J, She B, He M … +2 more , Yuan C, Li N
Endokrynol Pol · 2025 · PMID 40071797 · Publisher ↗
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...
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.
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.
Gawlik-Starzyk A, Dora M, Baran D … +41 more , Szostakiewicz Ł, Trofimiuk-Müldner M, Müldner-Nieckowski Ł, Bielska-Brodziak A, Adamczewska-Stachura M, Antosz A, Bajszczak K, Barg E, Barteczka-Eckert B, Chodecka A, Cichoń L, Dobiała E, Drosdzol-Cop A, Fornalik I, Holka-Pokorska J, Iniewicz G, Jakubowski T, Janas-Kozik M, Kapczuk K, Kata J, Koszutski T, Kudela G, Ławicka J, Mazurczak A, Mijas M, Nowacka M, Pastwa-Wojciechowska B, Pilarczyk-Parchanowicz K, Pilch P, Pilecki M, Rachoń D, Remberk B, Skrzypulec-Plinta V, Sikora J, Stankiewicz S, Szarras-Czapnik M, Szymańska-Pytlińska M, Walczak M, Wilczyński K, Wróbel B, Grabski B
Endokrynol Pol · 2025 · PMID 40071796 · Publisher ↗
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 e...
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.
Novel radiopharmaceuticals in endocrinology: a comprehensive review.
Pocięgiel M, Saniewski T, Wrzosek K … +3 more , Opyd P, Franek E, Lis M
Endokrynol Pol · 2024 · PMID 39829215 · Publisher ↗
Endocrinology is the study of hormones and the endocrine glands that are responsible for maintaining homeostasis in the human body. Recently, there has been a surge of interest in the development of novel radiopharmaceut...
Endocrinology is the study of hormones and the endocrine glands that are responsible for maintaining homeostasis in the human body. Recently, there has been a surge of interest in the development of novel radiopharmaceuticals for diagnostic and therapeutic purposes in endocrinology. This comprehensive review explores the latest advances in novel radiopharmaceuticals with applications in the diagnosis and treatment of different endocrine disorders, including thyroid, adrenal, and pituitary disorders, as well as neuroendocrine tumours. The article discusses innovative approaches that leverage the decay characteristics of radioisotopes to enhance the accuracy of diagnostic imaging and the therapeutic capability of targeted interventions. It covers the fundamental principles underlying radiopharmaceutical design, synthesis, and imaging modalities, as well as the mechanisms that drive their efficacy in endocrine applications. Furthermore, the clinical implications of these novel radiopharmaceuticals are explored, along with their role in early detection, precise localisation, and personalised treatment strategies. Case studies and clinical trials are cited to highlight the practical utility and potential transformative impact of these advancements in the management of endocrine diseases. This review also notes current challenges, ongoing research and development, and future directions in the field. By providing a comprehensive overview of the evolving landscape of radiopharmaceuticals in endocrinology, this article aims to contribute to the collective knowledge base and foster a deeper understanding of the potential benefits and implications of these innovative technologies for both clinicians and researchers in the field of endocrine health.
Diagnostics and treatment of differentiated thyroid carcinoma in children - Guidelines of the Polish National Scientific Societies, 2024 Update.
Handkiewicz-Junak D, Niedziela M, Lewiński A … +22 more , Bossowski A, Chmielik E, Czarniecka A, Dedecjus M, Dembowska-Bagińska B, Gawlik-Starzyk A, Górecki W, Harasymczuk J, Jarząb B, Krajewska J, Kropińska A, Kucharska A, Kurzawa P, Małecka-Tendera E, Mańkowski P, Polnik D, Pomorski L, Prokurat A, Raciborska A, Stawerska R, Taczanowska-Niemczuk A, Tarasińska M
Endokrynol Pol · 2024 · PMID 39829212 · Publisher ↗
The rapid progress made in recent years in thyroid cancer research has necessitated the systematic updating of current clinical recommendations. This update presents the evidence-based management of differentiated thyroi...
The rapid progress made in recent years in thyroid cancer research has necessitated the systematic updating of current clinical recommendations. This update presents the evidence-based management of differentiated thyroid carcinoma (DTC) and medullary thyroid carcinoma in children, including preoperative diagnostics, surgical management, radioiodine therapy in DTC treatment with L-thyroxine, disease monitoring, treatment of advanced disease, and finally, consequences of thyroid cancer treatment. Each recommendation is evaluated regarding its strength (Strength of Recommendation; SoR) and the quality of supporting data (QoE - Quality of Evidence).
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