BMC Endocrine Disorders最新文献

{"title":"SGLT2 inhibitor in a type 2 diabetes mellitus patient coexisted with central diabetes insipidus following hyperosmolar hyperglycemic state.","authors":"Shu Liu, Wenqiang Chen, Yanru Zhao, Shaohui Ma, Bingyin Shi, Hui Guo","doi":"10.1186/s12902-025-01924-1","DOIUrl":"https://doi.org/10.1186/s12902-025-01924-1","url":null,"abstract":"<p><strong>Background: </strong>Central diabetes insipidus (CDI) is a rare complication following a hyperglycemic hyperosmolar state (HHS) in patients with type 2 diabetes mellitus (T2DM). The coexistence of T2DM and CDI can lead to diagnostic challenges, particularly when the patients present with persistent hypernatremia without a sense of thirst.</p><p><strong>Case presentation: </strong>This case report describes a young woman with T2DM and HHS who developed persistent hypernatremia without thirst. The diagnosis of CDI was delayed until she exhibited polydipsia, consuming up to 10 L of water per day, following the administration of dapagliflozin for glucose control. Initially, the low specific gravity of urine was not evident during dapagliflozin treatment. However, after discontinuing dapagliflozin for 48 h, CDI was confirmed through a water deprivation test, which revealed polyuria with low urine specific gravity and osmolality. The patient was successfully treated with oral desmopressin.</p><p><strong>Conclusions: </strong>This case highlights that SGLT2 inhibitors, such as dapagliflozin, may accelerate polyuria and alter urine osmolality by inhibiting glucose and sodium reabsorption in the proximal tubular. Therefore, it is crucial to discontinue SGLT2 inhibitors when CDI is suspected or diagnosed.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"112"},"PeriodicalIF":2.8,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12013166/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143980502","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypothyroidism phenotypes, clinical characteristics, and factors associated with nodular thyroid disease in patients with hypothyroidism in Southern Ghana: a 6-year retrospective study.","authors":"Samuel Ametepe, Brian Yaw Entsiey Nyarko, Isaac Wormekpor, Bright Kantah, Michael Appiah, Precious Kwablah Kwadzokpui, Esther Ngozi Adejumo, Christian Obirikorang, Abigail Ibrahim, Belinda Ampomah Kwarteng, Eric Ny Nyarko, James Osei-Yeboah, Sylvester Yao Lokpo","doi":"10.1186/s12902-025-01934-z","DOIUrl":"https://doi.org/10.1186/s12902-025-01934-z","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to describe the frequency of hypothyroidism phenotypes, clinical characteristics, and factors associated with nodular thyroid among hypothyroid patients at the University of Ghana Hospital in southern Ghana.</p><p><strong>Methods: </strong>This study was a 6-year hospital-based retrospective study that extracted data from 221 patients with hypothyroidism from the archival records of the University of Ghana Hospital using a checklist. These include socio-demography (age, gender, marital status, residential status, educational level), lifestyle variables (anthropometry, smoking status, alcohol intake), and co-morbidities, as well as ultrasound imaging findings of the thyroid. Serum thyroid hormone levels were used to classify hypothyroidism phenotypes. Bivariate and multivariate logistic regression analyses were performed to identify factors associated with nodular thyroid disease.</p><p><strong>Result: </strong>The frequency of primary, subclinical, and secondary hypothyroidism was 81.4%, 16.3%, and 2.3%, respectively. Fatigue [120(54.3%)], heavy menstrual loss [54/160(33.8%)], and cold intolerance [73(33.0%)], were predominant symptoms while 54/57 (94.7%) were overweight/obese, 23/32 (71.9%) had dyslipidaemia whereas 7/34 (20.6%) had hypertension. The odds of developing nodular thyroid disease were 2.11 times higher (95% CI: 1.07-4.17; p = 0.032) in males than in females.</p><p><strong>Conclusion: </strong>Our results provide insight into the frequency of hypothyroidism phenotypes, clinical characteristics, and factors associated with nodular thyroid, emphasizing male gender as an independent predictor of nodular thyroid disease. Our findings also emphasize the need for lifestyle adjustment as a mitigating strategy in the management of hypothyroidism. However, prospective studies are required to confirm the findings or investigate the histological characteristics of thyroid nodules in patients with hypothyroidism.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"111"},"PeriodicalIF":2.8,"publicationDate":"2025-04-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12013080/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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 triglyceride glucose index and depression in polycystic ovary syndrome.","authors":"Guili Chen, Lin Zhu, Ying Lou, Yingyun Wu, Lanying Wang, Weirong Mao, Jianting Ma","doi":"10.1186/s12902-025-01927-y","DOIUrl":"https://doi.org/10.1186/s12902-025-01927-y","url":null,"abstract":"<p><strong>Objective: </strong>The relationship between the triglyceride glucose (TyG) index and the incidence of depression in populations with polycystic ovary syndrome (PCOS) remains unclear. This study aims to investigate the relationship between the TyG index and depression incidence in PCOS populations.</p><p><strong>Methods: </strong>We conducted a study on 725 women aged 18 to 45 who visited our hospital from January 2021 to December 2023. Demographic and anthropometric data were collected, and serum assays were performed. The Center for Epidemiologic Studies Depression Scale (CES-D) was used to assess the past week's feelings and determine depression status. Statistical methods such as binary logistic regression analysis were used to analyze the relationship between the TyG index, Homeostatic model assessment insulin resistance index(HOMA-IR), and depression in PCOS patients. The TyG index, HOMA-IR, was tested for its ability to predict depression using receiver operating characteristic (ROC) curves.</p><p><strong>Results: </strong>In logistic regression models, a significant positive association was observed between the TyG index and depression after the adjusted analysis(4.552(2.975 ∼ 6.966), P<0.001). Compared to HOMA-IR(1.224(1.122 ∼ 1.336), P<0.001), the TyG index was a more significant risk factor for depression. ROC analysis showed that the AUC of the TyG index(0.724, 0.684 ∼ 0.765) was higher than the HOMA-IR(0.698,0.656~0.74).</p><p><strong>Conclusions: </strong>A high TyG index was associated with higher odds of having depression in the population with PCOS. This indicated that the TyG index may be an independent predictor of depression development.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"108"},"PeriodicalIF":2.8,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12010597/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The impact of vitamin D supplementation on glycemic control and lipid metabolism in polycystic ovary syndrome: a systematic review of randomized controlled trials.","authors":"Miao Yu, Shuai Chen, Xia Liu, Hui Dong, Deng-Chao Wang","doi":"10.1186/s12902-025-01920-5","DOIUrl":"https://doi.org/10.1186/s12902-025-01920-5","url":null,"abstract":"<p><strong>Background: </strong>Polycystic ovary syndrome (PCOS) is a prevalent endocrine condition affecting both metabolic and reproductive health in women. The impact of vitamin D on metabolic regulation has attracted growing interest. The purpose of this study is to investigate the impact of vitamin D supplementation on key metabolic parameters-namely blood glucose, insulin, and lipid levels-in individuals with PCOS.</p><p><strong>Methods: </strong>A systematic review was conducted to identify relevant studies in PubMed, Embase, Cochrane Library, Web of Science, and ClinicalTrials.gov. The search focused on randomized controlled trials (RCTs) evaluating the impact of vitamin D supplementation in patients with PCOS. Meta-analysis was performed using RevMan 5.3 software, and study quality was evaluated with the Cochrane Risk of Bias Tool. In addition, outcome-related evidence was graded using the GRADE system, and TSA was performed to determine if the number of participants met the required threshold.</p><p><strong>Results: </strong>A total of 691 individuals with PCOS from 13 RCTs were evaluated. The meta-analysis indicated that the supplementation of vitamin D led to a notable reduction in the subsequent metabolic parameters: fasting blood glucose[MD=-2.91 mg/dL, 95% CI (-4.78, -1.04) mg/dL, P = 0.002], insulin levels[MD=-1.98 µIU/mL, 95% CI (-3.32, -0.64) µIU/mL, P = 0.004], triglycerides[MD=-11.01 mg/dL, 95% CI (-16.42, -5.61) mg/dL, P < 0.0001], total cholesterol [MD=-11.69 mg/dL, 95% CI (-15.56, -7.82) mg/dL, P < 0.00001], very low-density lipoprotein cholesterol (VLDL-cholesterol) [MD=-2.64 mg/dL, 95% CI (-4.50, -0.79) mg/dL, P = 0.005], and low-density lipoprotein cholesterol (LDL-cholesterol) [MD=-5.85 mg/dL, 95% CI (-10.28, -1.42) mg/dL, P = 0.010]. Nevertheless, the supplementation of vitamin D did not exert a significant impact on high - density lipoprotein cholesterol (HDL - cholesterol) [MD=-0.21 mg/dL, 95% CI (-0.81, 1.22) mg/dL, P = 0.69]. Begg's and Egger's tests suggested a minimal probability of publication bias, and the TSA confirmed that the optimal sample size for major outcomes had been reached, supporting the robustness of the meta-analysis results.</p><p><strong>Conclusion: </strong>Vitamin D supplementation shows significant benefits in improving metabolic parameters in PCOS patients, particularly in reducing fasting blood glucose, insulin, and lipid levels, suggesting a potential role of vitamin D in PCOS management. The long-term outcomes and most effective dose of vitamin D warrant further investigation in future research.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"110"},"PeriodicalIF":2.8,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12010551/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143954466","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Recurrent education: A promising strategy for enhancing diabetes management and reducing hypoglycemia in children with type 1 diabetes.","authors":"Didem Güneş Kaya, Elvan Bayramoğlu, Hande Turan, Enes Karaca, Göktuğ Zorbay Eyüpoğlu, Betül Zehra Pirdal, Saadet Olcay Evliyaoğlu","doi":"10.1186/s12902-025-01917-0","DOIUrl":"https://doi.org/10.1186/s12902-025-01917-0","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to assess the impact of recurrent individualized education on the management of hypoglycemia, hypoglycemia awareness, and metabolic control of diabetes in children and adolescents living with type 1 diabetes (T1D).</p><p><strong>Methods: </strong>A prospective quantitative study involving participants aged 8 to 18 years with T1D was conducted. Three established hypoglycemia screening tools were employed: the Hypoglycemia Fear Survey (HFS), the Gold Hypoglycemia Awareness Questionnaire, and the Edinburgh Hypoglycemia Symptoms Scale. The participants used blinded continuous glucose monitoring (b-CGM) devices to document glucose values, meals, insulin doses, exercise periods, symptomatic hypoglycemia episodes, and glucose levels during hypoglycemia, experienced symptoms, and treatment approaches for hypoglycemia. Following this initial phase, the participants received education from healthcare professionals. The same procedures were repeated six weeks after the educational intervention.</p><p><strong>Results: </strong>Prior to education, approximately half (n = 21) of the 47 participants were present with impaired hypoglycemia awareness (IHA), and half of the IHA group applied the appropriate hypoglycemia self-treatment. After education, almost all participants demonstrated an improved ability to manage hypoglycemia effectively. Following education, improvements in the frequency of fingerstick glucose measurement per day, time spent within the target glucose range (70-180 mg/dL), glycemic variability (GV), hypoglycemia perception, appropriate hypoglycemia self-treatment, and hypoglycemia fear were observed, both in participants with hypoglycemia awareness and those with IHA.</p><p><strong>Conclusions: </strong>The results indicate that children and adolescents living with T1D benefit from recurrent self-management education. The benefits were observed in both participants with hypoglycemia awareness and those with IHA. Education positively impacts diabetes management and enhances hypoglycemia awareness.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"109"},"PeriodicalIF":2.8,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12010674/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143971588","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"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 thyroid stimulating hormone levels and nonproliferative diabetic retinopathy: a cross-sectional study.","authors":"Yiqi Xu, Biwu Dong, Youyun Tang, Yan Jiang, Tingting Huang, Feng Jiang, Wei Xing, Junsheng Chen, Fengping Zhu","doi":"10.1186/s12902-025-01928-x","DOIUrl":"https://doi.org/10.1186/s12902-025-01928-x","url":null,"abstract":"<p><strong>Background: </strong>The association between thyroid-stimulating hormone (TSH) and type 2 diabetes mellitus (T2DM) is well known. However, whether TSH is related to nonproliferative diabetic retinopathy (NPDR) has not been studied. This study aimed to explore the relationship between TSH and NPDR in Chinese patients with T2DM.</p><p><strong>Methods: </strong>In this cross-sectional study, 427 patients with T2DM were enrolled. The individuals were classified into two groups according to the fundus oculi examination: the non-diabetic retinopathy (NDR) group (n = 224) and the non-proliferative diabetic retinopathy (NPDR) group (n = 203). The individuals' demographic and clinical data were collected by reviewing medical records and direct interviews. The demographic data and biochemical parameters were compared between groups using the Student's t - test or the Mann‒Whitney U test, anthropometric measurements, thyroid function, and NPDR were evaluated, and the associations between TSH and NPDR were assessed using logistic regression models.</p><p><strong>Results: </strong>No significant differences in age, sex, body mass index (BMI), incidence of alcohol consumption, and duration of diabetes were found between these two groups. The systolic blood pressure (SBP), incidence of smoking, TSH, blood urea nitrogen (BUN), and urinary micro-albumin (mALB) were significantly higher in the NPDR group than in the NDR group (P < 0.05). Individuals in the NDR group had higher levels of thyroxine (T4), glutamic pyruvic transaminase (ALT), fasting C-peptide (FCP), and 2-hour C-peptide (2hCP) than individuals in the NPDR group (P < 0.05). Spearman's correlation analysis revealed that the serum TSH levels were negatively associated with the HbA1c levels in all patients (r=-0.11, P < 0.05). Serum TSH levels were negatively correlated with HbA1c levels (r = -0.19, P < 0.01) and positively correlated with diabetes duration (r = 0.14, P < 0.05) in the NPDR group. Multivariate logistic regression analysis revealed that high TSH levels, sex, diabetes duration, high-density lipoprotein cholesterol (HDL-C), glycosylated hemoglobin (HbA1c), FCP, and SBP were associated with NPDR [odds ratio (OR) > 1, P < 0.05]. Receiver operating characteristic curve analysis revealed that the optimal cutoff point of TSH for predicting NPDR was 2.235 mIU/L.</p><p><strong>Conclusion: </strong>The TSH level is independently associated with NPDR in the Chinese population with T2DM. A high serum TSH level may be a potential risk factor for NPDR and an indicator for screening for diabetic microangiopathy.</p><p><strong>Trial registration: </strong>This study is registered with the Chinese Clinical Trial Registry (02/21/2025 ChiCTR2500097614).</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"106"},"PeriodicalIF":2.8,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12010677/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143984285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Scaffold-free endocrine tissue engineering: role of islet organization and implications in type 1 diabetes.","authors":"Tugba Bal","doi":"10.1186/s12902-025-01919-y","DOIUrl":"https://doi.org/10.1186/s12902-025-01919-y","url":null,"abstract":"<p><p>Type 1 diabetes (T1D) is a chronic hyperglycemia disorder emerging from beta-cell (insulin secreting cells of the pancreas) targeted autoimmunity. As the blood glucose levels significantly increase and the insulin secretion is gradually lost, the entire body suffers from the complications. Although various advances in the insulin analogs, blood glucose monitoring and insulin application practices have been achieved in the last few decades, a cure for the disease is not obtained. Alternatively, pancreas/islet transplantation is an attractive therapeutic approach based on the patient prognosis, yet this treatment is also limited mainly by donor shortage, life-long use of immunosuppressive drugs and risk of disease transmission. In research and clinics, such drawbacks are addressed by the endocrine tissue engineering of the pancreas. One arm of this engineering is scaffold-free models which often utilize highly developed cell-cell junctions, soluble factors and 3D arrangement of islets with the cellular heterogeneity to prepare the transplant formulations. In this review, taking T1D as a model autoimmune disease, techniques to produce so-called pseudoislets and their applications are studied in detail with the aim of understanding the role of mimicry and pointing out the promising efforts which can be translated from benchside to bedside to achieve exogenous insulin-free patient treatment. Likewise, these developments in the pseudoislet formation are tools for the research to elucidate underlying mechanisms in pancreas (patho)biology, as platforms to screen drugs and to introduce immunoisolation barrier-based hybrid strategies.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"107"},"PeriodicalIF":2.8,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12010671/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143965044","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Dietary iron intake is nonlinearly associated with the risk of diabetic retinopathy in adults with type 2 diabetes.","authors":"Xiaoyun Chen, Yihang Fu, Hongyu Si, Wenfei Li, Weimin Yang, Wei Xiao","doi":"10.1186/s12902-025-01926-z","DOIUrl":"https://doi.org/10.1186/s12902-025-01926-z","url":null,"abstract":"<p><strong>Objective: </strong>To elucidate the association between dietary iron intake and diabetic retinopathy (DR) in type 2 diabetes (T2D) patients.</p><p><strong>Methods: </strong>Participants from the National Health and Nutrition Examination Survey (NHANES) 2005-2008 aged over 40 years with T2D were included. Dietary iron intake was estimated from standardised questionnaires. The presence of DR and vision-threatening DR (VTDR) was determined through retinal imaging. We used logistic regression to assess the relationship between iron intake and DR, and restricted cubic splines to reveal nonlinear links.</p><p><strong>Results: </strong>The study enrolled 1172 T2D adults. We found significant nonlinear associations between dietary iron intake and DR among females (P = 0.023), but not in males (P = 0.490). Compared with the lowest quartile of iron intake, the third quartile (13.2-18.1 mg/d) yielded significantly lower odds of developing DR (odds ratio [OR], 0.59; 95% CI, 0.39-0.90) and VTDR (OR, 0.42; 95% CI, 0.19-0.94). Stratified logistic analyses showed that medium-high iron intake was associated with lower risks of DR in females (OR, 0.44; 95% CI, 0.24-0.81), non-Hispanic Blacks (OR, 0.38; 95% CI, 0.17-0.85), and individuals with obesity (OR, 0.45; 95% CI, 0.25-0.82), high HbA1c (OR, 0.56; 95% CI, 0.34-0.93), long diabetes duration (OR, 0.40; 95% CI, 0.21-0.76) or low blood haemoglobin (OR, 0.17; 95% CI, 0.05-0.60).</p><p><strong>Conclusion: </strong>Dietary iron intake was nonlinearly negatively associated with the prevalence of DR and VTDR, showing protective effect against retinopathy of medium-high iron intake in T2D patients. Such associations significantly vary by multiple factors such as age, ethnicity, obesity and glycaemic control.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"102"},"PeriodicalIF":2.8,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12007315/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143974691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Atypical presentation of pseudohypoparathyroidism with absence of mutations in the GNAS gene: a case report.","authors":"Tao Wen, Qian Liu, Xiangfa Liu, Rongjiao You, Xingyue Li, Rongxuan Li, Lixi Tan, Jing Cheng, Mingfan Hong, Zhongxing Peng","doi":"10.1186/s12902-025-01933-0","DOIUrl":"https://doi.org/10.1186/s12902-025-01933-0","url":null,"abstract":"<p><strong>Background: </strong>This case report aimed to broaden the understanding of pseudohypoparathyroidism (PHP) manifestations when typical mutations in the GNAS gene are absent. The clinical, biochemical, and genetic investigations of a PHP case revealed diagnostic challenges and emphasized the importance of comprehensive genetic analysis for early diagnosis and appropriate management, as well as improved patient outcomes.</p><p><strong>Case presentation: </strong>The case involved a 21-year-old man who has experienced recurrent limb convulsions and episodes of altered consciousness since the age of eight. Recent assessments during frequent hospitalization uncovered findings consistent with PHP, including hypocalcemia, hyperphosphatemia, elevated parathyroid hormone level, and short stature. Notably, genetic testing did not reveal mutations in the GNAS gene, which could be typically associated with PHP. Diagnostic tests revealed mild abnormalities in the electroencephalogram and multiple abnormal signals in brain magnetic resonance imaging, specifically in the caudate, lenticular, dentate, and thalamus nuclei. Cranial computed tomography scan confirmed symmetrical calcifications in the basal ganglia. Biochemical analysis revealed severely altered calcium and phosphorus metabolism. Routine endocrine and neurological evaluations yielded results within normal ranges. Genetic testing identified a novel missense mutation in the GHSR gene, which has not been reported in the database and may reasonably explain some of the patient's phenotypic features.</p><p><strong>Conclusions: </strong>While mutations in the GNAS gene are the primary genetic markers for PHP, the presence of other genetic mutations in some cases complicates the clinical analysis. This case highlights the need for a comprehensive genetic screening approach in patients with PHP-like symptoms who do not exhibit mutations in the GNAS gene, to avoid misdiagnosis and ensure timely intervention.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"104"},"PeriodicalIF":2.8,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12007354/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143968267","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Validation of the Persian version of the summary of diabetes self-care activities scale (SDSCA) in pregnant women with gestational diabetes mellitus using a COSMIN methodology.","authors":"Mahsa Maghalian, Mohammad Asghari Jafarabadi, Fatemeh Abbasalizadeh, Sakineh Mohammad-Alizadeh-Charandabi, Solmaz Ghanbari-Homaie, Mojgan Mirghafourvand","doi":"10.1186/s12902-025-01931-2","DOIUrl":"https://doi.org/10.1186/s12902-025-01931-2","url":null,"abstract":"<p><strong>Background: </strong>Gestational diabetes mellitus (GDM) is a condition with significant prenatal and postnatal implications. This study aimed to validate the Summary of Diabetes Self-Care Activities (SDSCA) measure in Iranian women with GDM, focusing on its psychometric properties.</p><p><strong>Methods: </strong>The Persian version of the SDSCA was evaluated in 180 Iranian women with GDM. Following COSMIN guidelines, the instrument was translated into Persian, and its psychometric properties were assessed, including content validity, face validity, construct validity, internal consistency, test-retest reliability, measurement error, responsiveness, and interpretability. Floor and ceiling effects were also examined.</p><p><strong>Results: </strong>The validity assessments showed strong content validity, with a Content Validity Index (CVI) of 0.93 and a Content Validity Ratio (CVR) of 0.97. Face validity yielded an impact score of 4.38. Exploratory factor analysis (EFA) identified three factors-diet, exercise, and blood sugar testing-accounting for 57.4% of the variance. Confirmatory factor analysis (CFA) confirmed the model's excellent fit (CFI = 1.00, TLI = 0.99, NFI = 0.98, RFI = 0.96). The reliability analysis showed a Cronbach's alpha of 0.78 and a McDonald's omega of 0.91, with an intraclass correlation coefficient (ICC) of 0.92 (95% CI: 0.83-0.96). Ceiling effects were observed for blood sugar testing (26.7%), while floor effects were noted for exercise (6.7%) and blood sugar testing (6.1%). The Minimal Important Change (MIC) of 2.68 units exceeded the Smallest Detectable Change (SDC) of 1.11 units, indicating the tool's ability to detect clinically meaningful changes.</p><p><strong>Conclusions: </strong>The Persian version of the SDSCA demonstrates strong psychometric properties, including both reliability and validity, making it a suitable tool for assessing self-care behaviors in Iranian women with GDM. Its use in future research can enhance understanding of self-management in this population.</p>","PeriodicalId":9152,"journal":{"name":"BMC Endocrine Disorders","volume":"25 1","pages":"103"},"PeriodicalIF":2.8,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12007123/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143965627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}