International Journal of Endocrinology and Metabolism最新文献

{"title":"Is There any Correlation Between Pulmonary and Coronary Involvement in Diabetic Patients?","authors":"Mahmoud Parham, Mohammad Aghaali, Seyed Hassan Adeli, Ahmad Reza Bagheri, Masoud Sadeghi, Akram Asghari","doi":"10.5812/ijem-160600","DOIUrl":"10.5812/ijem-160600","url":null,"abstract":"<p><strong>Background: </strong>Diabetes is a major global health issue, affecting over 8.5% of adults worldwide and significantly increasing the risk of cardiovascular diseases (CVDs). However, the association between diabetes-related macrovascular complications, such as coronary artery disease (CAD), and pulmonary function remains unclear.</p><p><strong>Objectives: </strong>The present study was designed to investigate the association between obstructive and restrictive lung patterns and the severity of coronary artery involvement.</p><p><strong>Methods: </strong>A cross-sectional study was conducted at Shahid Beheshti Hospital, Qom, Iran, between April 2019 and August 2021. A total of 211 diabetic patients who underwent coronary angiography (CAG) were selected. They were divided into two groups: Sixty-nine patients in group 1 (non-significant CAD) and 142 patients in group 2 (significant CAD). Spirometry was performed to assess forced expiratory volume (FEV), forced vital capacity (FVC), and FEV/FVC ratio, with values adjusted for age and sex in the two groups.</p><p><strong>Results: </strong>Among the 211 participants, 142 (67.3%) exhibited significant coronary artery involvement. Comparative analysis revealed no statistically significant differences in spirometric parameters [forced expiratory volume in one second (FEV₁), FVC, FEV₁/FVC ratio] between the groups. Notably, advancing age demonstrated a significant negative correlation with both FEF50% (β = -0.32, P < 0.01) and FVC values (β = -0.28, P < 0.05). Multivariate regression analysis identified inverse relationships between age and peak expiratory flow (PEF; β = -0.41, P < 0.001), HbA1C levels and PEF (β = -0.23, P < 0.05). Additionally, sex emerged as a significant modifier of %FEV₁/FVC (β = 0.19, P < 0.05), with female participants showing lower ratios.</p><p><strong>Conclusions: </strong>This study failed to find an association between spirometry findings and coronary artery involvement. However, a significant relationship between small airway involvement and glycemic control was observed.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":"23 3","pages":"e160600"},"PeriodicalIF":1.8,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12523631/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145307852","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lazy Adrenals in Severe Hypothyroidism - Myth or Mirage?","authors":"Swaraj Waddankeri, Meenakshi Swaraj Waddankeri","doi":"10.5812/ijem-158985","DOIUrl":"10.5812/ijem-158985","url":null,"abstract":"<p><strong>Background: </strong>Clinical features of hypothyroidism and adrenal insufficiency (AI) often overlap.</p><p><strong>Objectives: </strong>To assess the morning serum cortisol levels of treatment-naïve patients with severe hypothyroidism.</p><p><strong>Methods: </strong>In this prospective, case-control study, treatment-naïve adults with severe hypothyroidism [thyroid-stimulating hormone (TSH) > 100 mIU/mL] were compared with age- and sex-matched euthyroid controls. Morning (08:00 AM) serum cortisol, TSH, triiodothyronine (T3), and thyroxine (T4) levels were measured. AI was defined clinically and biochemically as cortisol levels < 4 µg/dL. Correlation coefficients between T3, T4, and cortisol levels were calculated.</p><p><strong>Results: </strong>The case group (n = 71; women, 88.7%; mean age, 30.0 ± 9.0 years) had significantly lower serum cortisol levels than controls (n = 40; 8.6 ± 4.2 vs 16.0 ± 2.22 µg/dL; P < 0.0001). Six patients (8.5%) in the case group met criteria for AI. Patients with AI had significantly lower T3 and T4 levels than those without AI (P = 0.018 and P = 0.005, respectively). A negative correlation was observed between T3 and cortisol levels (r = -0.243, P = 0.041), while T4 showed no significant correlation (r = -0.103, P = 0.391).</p><p><strong>Conclusions: </strong>Treatment-naïve patients with severe hypothyroidism may exhibit biochemical evidence of AI. Routine screening for AI in these patients is recommended to avoid missed diagnoses and guide appropriate therapy.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":"23 2","pages":"e158985"},"PeriodicalIF":1.8,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12301665/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144730307","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prognostic Factors Among Patients with Non-metastatic Adrenocortical Carcinoma.","authors":"Haruyuki Ohsugi, Nae Takizawa, Takahiro Nakamoto, Takao Mishima, Katsunori Uchida, Hidefumi Kinoshita","doi":"10.5812/ijem-159772","DOIUrl":"10.5812/ijem-159772","url":null,"abstract":"<p><strong>Background: </strong>Adrenocortical carcinoma (ACC) is a very rare and aggressive disease with limited systemic therapeutic options.</p><p><strong>Objectives: </strong>Treatment with adjuvant mitotane is common after resection of ACC; however, high-risk patients often experience early recurrence. The risk factors for recurrence after surgery were analyzed in patients with non-metastatic ACC.</p><p><strong>Methods: </strong>We retrospectively reviewed the medical records of 20 patients who were treated for ACC between 1994 and 2023 at Kansai Medical University Hospital or Kansai Medical University Medical Center in Osaka, Japan. We studied the recurrence-free survival (RFS) rates of a subset of 15 patients with non-metastatic ACC [European network for the study of adrenal tumors (ENSATs) stage I-III]. Statistical analyses included the Kaplan-Meier survival analysis and the Cox proportional hazard model.</p><p><strong>Results: </strong>Of the 15 patients with non-metastatic ACC, nine patients (60%) experienced recurrence. The median RFS was seven months, and all recurrences occurred within 24 months. In all cases, the site of recurrence was the lungs or liver. Univariate analysis showed that ENSAT stage III classification [hazard ratio (HR) 6.974, P = 0.007] was the only factor that made a statistically significant difference to RFS. Although five of the six ENSAT stage III patients took adjuvant mitotane, all experienced recurrence.</p><p><strong>Conclusions: </strong>In patients with non-metastatic ACC, a diagnosis of ENSAT stage III is the only factor that significantly affects RFS. In these patients, adjuvant mitotane is likely insufficient to prevent recurrence.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":"23 2","pages":"e159772"},"PeriodicalIF":1.8,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12296635/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144730308","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evaluation of Predictive Risk Factors of Persistent Hypertension in Hyperaldosteronism After Surgery.","authors":"Amal Ourdi, Youssra Laalaoua, Imane Assarrar, Bouichrat Nisrine, Siham Rouf, Hanane Latrech","doi":"10.5812/ijem-156728","DOIUrl":"10.5812/ijem-156728","url":null,"abstract":"<p><strong>Background: </strong>Primary hyperaldosteronism (PHA) is a common cause of secondary arterial hypertension (AH), characterized by autonomous aldosterone secretion. It is frequently underdiagnosed and may persist even after surgical intervention.</p><p><strong>Objectives: </strong>The present study aimed to identify preoperative factors that could predict whether hypertension would persist or normalize following surgery and to outline relevant diagnostic characteristics.</p><p><strong>Methods: </strong>We conducted a descriptive, analytic, retrospective cohort study at a single center. The study included patients with PHA who were followed up at the Department of Endocrinology, Diabetology, and Nutrition in a hospital affiliated with Mohamed the First University of Oujda (CERBO), admitted between December 2014 and August 2023. Data were retrospectively collected from patient records over a 9-year period, involving 27 patients with PHA confirmed by an elevated aldosterone-to-renin ratio (ARR). Persistent disease was defined by persistent hypokalemia and hypertension (blood pressure > 140/90 mm Hg) after six months. Patients were divided into two groups: Those with complete resolution of hypertension (group A) and those with persistent hypertension (group B). Data were analyzed using SPSS version 21.</p><p><strong>Results: </strong>The mean age of patients was 48.47 ± 10.87 years, with a female predominance (66.7%). The etiological assessment identified Conn's adenoma in 70.4% (n = 19) of cases and bilateral adrenal hyperplasia in 29.6% (n = 8). Surgery was performed in 51.9% (n = 14) of cases, with 50% (n = 7) maintaining persistent hypertension post-surgery, while 28.6% (n = 4) showed a reduction in antihypertensive medications. Two predictive factors for persistent hypertension were identified: Age > 50 years and hypertension duration > 5 years. Predictive factors for normalization of hypertension post-surgery included systolic blood pressure (SBP) < 140 mm Hg, diastolic blood pressure (DBP) < 90 mm Hg, glomerular filtration rate (GFR) > 90 mL/min/1.75 m², and a low incidence of diabetes and dyslipidemia.</p><p><strong>Conclusions: </strong>This study demonstrates that PHA can lead to resistant hypertension, highlighting the necessity for further research in this area.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":"23 2","pages":"e156728"},"PeriodicalIF":1.8,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12301664/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144730349","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypoparathyroidism in a Child with MELAS Syndrome: A Case Report of Severe Lactic Acidosis and Symmetrical Bilateral Basal Ganglia Calcification.","authors":"Ling Wang, Tingting Zhou, Xiaosong Bu, Daoxiang Pan, Xiaojing Liu","doi":"10.5812/ijem-161585","DOIUrl":"10.5812/ijem-161585","url":null,"abstract":"<p><strong>Introduction: </strong>MELAS syndrome is a mitochondrial disorder typically characterized by brain dysfunction and endocrinopathies, but it rarely presents with hypoparathyroidism (HP).</p><p><strong>Case presentation: </strong>Here, we report the case of a child who initially presented with vomiting and convulsions. Blood gas analysis revealed significant hyperlactatemia and hypocalcemia. The child's urinary calcium level was markedly decreased, measured at 0.15 mmol/24h, well below the normal range. A brain CT scan showed symmetrical calcification in the bilateral basal ganglia. Endocrine testing confirmed low parathyroid hormone (PTH) levels. During hospitalization, the child received treatment for recurrent seizures, including midazolam and levetiracetam. One month post-discharge, the child was readmitted due to elevated lactate levels. Genetic testing confirmed the diagnosis of MELAS syndrome, identifying the m.3243A > G mutation in the MT-TL1 gene. Under symptomatic treatment, the child has not experienced any further convulsions and has been regularly followed up at our hospital.</p><p><strong>Conclusions: </strong>This case underscores the importance of considering MELAS syndrome in patients presenting with hypoparathyroidism. Effective management of epileptic seizures and maintaining an appropriate calcium-to-phosphorus balance are crucial for minimizing brain damage and improving the patient's prognosis.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":"23 2","pages":"e161585"},"PeriodicalIF":1.8,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12296682/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144730306","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Uncovering the Hidden Connections Between PCOS and Alzheimer's Disease: A Two-Sample Mendelian Randomization Perspective.","authors":"Farzaneh Sadat Motafeghi, Mahdi Akbarzadeh, Samaneh Talebi, Danial Habibi, Sahand Tehrani Fateh, Hamid Alavi Majd, Mehdi Hedayati, Fereidoun Azizi, Maryam Sadat Daneshpour, Fahimeh Ramezani Tehrani","doi":"10.5812/ijem-159124","DOIUrl":"10.5812/ijem-159124","url":null,"abstract":"<p><strong>Background: </strong>Polycystic ovary syndrome (PCOS) and Alzheimer's disease (AD) are two prevalent and complex conditions characterized by overlapping features such as metabolic dysfunction, hormonal imbalance, and chronic inflammation. These commonalities raise the possibility of a shared causal pathway. However, observational studies often face limitations due to confounding factors, complicating causal inference.</p><p><strong>Objectives: </strong>The present study aimed to explore the causal link between PCOS and AD through Mendelian randomization (MR) analysis.</p><p><strong>Methods: </strong>We conducted a two-sample MR analysis using summary-level data from two large genome-wide association studies (GWAS). For the exposure, genetic variants strongly associated with PCOS were obtained from a GWAS meta-analysis involving 10,074 cases and 103,164 controls of European ancestry. For the outcome, AD data were sourced from a separate GWAS comprising 1,036,225 cases and 90,338 controls, also of European descent. Multiple MR approaches were employed, with inverse variance weighted (IVW) as the primary method, supported by MR-Egger, weighted median, and weighted mode methods. Sensitivity analyses were performed to assess the robustness of the findings.</p><p><strong>Results: </strong>The two-sample MR analysis did not provide evidence for a significant causal effect of genetically predicted PCOS on AD risk. The initial IVW analysis using all instrumental variables (IVs) yielded an odds ratio (OR) of 0.967 [95% confidence interval (CI): 0.905 - 1.03; P = 0.311]. After removing outlier single nucleotide polymorphisms (SNPs) based on sensitivity analyses, the refined IVW model showed an OR of 0.93 (95% CI: 0.866 - 1.002; P = 0.057), indicating no statistically significant association. The results were consistent across various MR methods, and sensitivity tests confirmed the robustness of the findings.</p><p><strong>Conclusions: </strong>This MR study found no evidence of a significant causal relationship between genetically predicted PCOS and AD. These findings suggest that genetic predisposition to PCOS does not increase the risk of AD, indicating that previously observed associations in epidemiological studies may not reflect a causal link. Further studies are needed to explore alternative explanations beyond genetic causality.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":"23 2","pages":"e159124"},"PeriodicalIF":1.8,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12523684/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145307875","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association Between Glycated Hemoglobin and Coronary Artery Calcification in Middle-Aged and Elderly Chinese Checkup Populations.","authors":"Ya Huang, Wenji Ni, Ying Zhou, Dandan Li, Rui Zhang, Tao Jin, Yong Zhong","doi":"10.5812/ijem-158710","DOIUrl":"10.5812/ijem-158710","url":null,"abstract":"<p><strong>Background: </strong>Previous studies have established that coronary artery calcification (CAC) is a robust predictor of adverse cardiovascular events.</p><p><strong>Objectives: </strong>To examine the association between levels of glycated hemoglobin (HbA1c), an indicator of long-term blood glucose levels, and CAC in middle-aged and elderly Chinese populations undergoing routine health screenings.</p><p><strong>Methods: </strong>A cross-sectional study was conducted on 8,955 Chinese adults over 40 years of age who underwent physical examinations in the Department of Health Medicine at our hospital from January 2022 to July 2023. The odds ratios (ORs) of CAC in relation to HbA1c were determined using multiple logistic regression analysis, both as a continuous and categorical variable. Furthermore, dose-response relationships between HbA1c levels and CAC were visualized using restricted cubic spline models.</p><p><strong>Results: </strong>Compared to the group with HbA1c lower than 5.7%, individuals in the groups with HbA1c of 5.7% to 6.4% and ≥ 6.5% exhibited an elevated prevalence of CAC (P for trend < 0.0001). Multivariable logistic regression showed that each 1% increase in HbA1c was associated with a 24% increased risk of CAC (OR = 1.24, 95% CI: 1.03-1.48, P = 0.02). Compared with the group with HbA1c lower than 5.7%, the groups with HbA1c at 5.7% - 6.4% and HbA1c ≥ 6.5% were associated with a 28% (OR = 1.28, 95% CI: 1.07 - 1.52) and 116% (OR = 2.16, 95% CI: 1.48 - 3.16) (P for trend < 0.0001) increased risk of CAC, respectively. Restricted cubic spline analyses showed a non-linear association between HbA1c and CAC (P for nonlinearity < 0.0001). At higher levels of HbA1c exposure (> 5.7%), the exposure dose-response curves appeared upward-sloping. Subgroup analyses showed that the association between HbA1c and CAC was more pronounced in those aged less than 60 years, with normal weight and blood pressure less than 135/85 mmHg, although none of the interactions between HbA1c and subgroups were statistically significant.</p><p><strong>Conclusions: </strong>This study indicated that higher HbA1c levels are associated with a greater likelihood of CAC in the middle-aged and elderly Chinese checkup population.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":"23 1","pages":"e158710"},"PeriodicalIF":2.1,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12118369/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144179962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"False Positive Cushing's Syndrome in a 16-Year-Old Male.","authors":"Mahdi Paksaz, Hedieh Saneifard, Alimohammad Mirdehghan, Marjan Shakiba, Asieh Mosallanejad","doi":"10.5812/ijem-158085","DOIUrl":"10.5812/ijem-158085","url":null,"abstract":"<p><strong>Introduction: </strong>Cushing syndrome is an endocrine disorder characterized by prolonged exposure to high levels of glucocorticoids, either from endogenous overproduction or exogenous sources. It presents with symptoms such as rapid weight gain, central obesity, muscle weakness, and hypertension. The diagnosis requires a combination of clinical, biochemical, and imaging tests. Dexamethasone suppression testing is pivotal in diagnosing hypercortisolism, but its accuracy may be affected by pharmacokinetic factors, such as drug interactions. This case report discusses a false-positive diagnosis of Cushing syndrome in a 16-year-old male, caused by the pharmacokinetic interference of carbamazepine, an enzyme-inducing medication.</p><p><strong>Case presentation: </strong>A 16-year-old male with psychiatric comorbidities (bipolar disorder and epilepsy) presented with rapid weight gain, a hallmark symptom of Cushing syndrome. Initial laboratory testing revealed elevated cortisol and adrenocorticotropic hormone (ACTH) levels, with partial cortisol suppression during the low-dose dexamethasone suppression test, suggesting an ACTH-dependent cause of hypercortisolism. Imaging studies of the pituitary and adrenal glands were negative for abnormalities. High-dose dexamethasone suppression and 24-hour urinary free cortisol (UFC) levels further supported the diagnosis of hypercortisolism. A detailed medication review revealed the patient was taking carbamazepine, a CYP3A4 enzyme inducer, which could have accelerated the metabolism of dexamethasone and led to inadequate suppression of cortisol, producing falsely elevated levels.</p><p><strong>Conclusions: </strong>Carbamazepine, through its enzyme-inducing effect on CYP3A4, likely interfered with the dexamethasone suppression test, leading to false-positive results for Cushing syndrome. Following the discontinuation of carbamazepine, the patient's cortisol levels normalized, weight stabilized, and the signs of Cushing syndrome resolved. Alternative psychiatric medications were initiated without further endocrine abnormalities. This case emphasizes the importance of considering pharmacokinetic interactions, such as those with enzyme-inducing drugs, when diagnosing Cushing syndrome. Clinicians should carefully review medications in patients with suspected hypercortisolism and consider these interactions when interpreting biochemical test results. A comprehensive medication review and interdisciplinary collaboration are crucial for accurate diagnosis, avoiding unnecessary interventions, and improving patient outcomes. The case advocates for tailored diagnostic protocols in similar clinical scenarios.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":"23 1","pages":"e158085"},"PeriodicalIF":2.1,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12118365/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144180856","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Free Thyroxine-to-Thyroid Stimulating Hormone Ratio: A Potential Diagnostic Marker for Graves' Disease.","authors":"Norashidah Binti Rahmat, Tuan Salwani Tuan Ismail, Mohd Zakwan Bin Md Muslim, Wan Mohd Saifuhisam Bin Wan Zain, Adlin Zafrulan Bin Zakaria, Mohd Yusran Bin Yusoff","doi":"10.5812/ijem-158565","DOIUrl":"10.5812/ijem-158565","url":null,"abstract":"<p><strong>Background: </strong>Graves' disease (GD) is a leading cause of hyperthyroidism, characterized by excessive thyroid hormone production. Although the thyroid stimulating hormone receptor autoantibodies (TRAb) test is specific for GD, its limited accessibility often delays diagnosis and treatment, leading to potential complications. Thus, exploring alternative diagnostic markers, such as thyroid hormone ratios, may offer a feasible solution.</p><p><strong>Objectives: </strong>This study aims to assess the diagnostic accuracy of the free thyroxine-to-thyroid stimulating hormone (FT4/TSH) ratio in distinguishing GD from other non-Graves' disease (NGD) hyperthyroidism.</p><p><strong>Methods: </strong>A retrospective study was conducted at Hospital Raja Perempuan Zainab II in Kelantan, Malaysia, from 2021 to 2023. A total of 351 hyperthyroid patients who underwent initial TRAb testing during this period were included. These patients were categorized into two groups: Graves' disease and NGD hyperthyroidism, based on definitive diagnoses made by endocrinologists, as documented in the electronic medical records. Data on patients' TSH, FT4, and FT4/TSH ratios and TRAb results were retrieved from the laboratory information system (LIS) for analysis. The diagnostic accuracy of these parameters was assessed using receiver operating characteristic (ROC) curve analysis to determine optimal cut-off values, sensitivity, specificity, positive predictive values (PPVs), and negative predictive values (NPVs).</p><p><strong>Results: </strong>Patients with GD had significantly higher FT4 and FT4/TSH ratios and lower TSH levels than NGD hyperthyroid patients (P < 0.001). Receiver operating characteristic analysis identified an FT4/TSH ratio cut-off of 13948.98 pmol/mIU, yielding a specificity of 99.4%, PPV of 92.31%, and an area under the curve (AUC) of 0.740.</p><p><strong>Conclusions: </strong>The FT4/TSH ratio shows promise as an accessible diagnostic marker for GD, particularly where TRAb testing is limited. Its high specificity and PPV could facilitate timely diagnosis, improving patient management and outcomes. Further studies are needed to validate this approach in larger populations.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":"23 1","pages":"e158565"},"PeriodicalIF":2.1,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12118366/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144181362","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Rare <i>PTF1A</i> Enhancer Mutation Causing Neonatal Diabetes Mellitus with Pancreatic Agenesis: Case Report and Considerations for Genetic Evaluation.","authors":"Mahdi Paksaz, Hedieh Saneifard, Alimohammad Mirdehghan, Asieh Mosallanejad, Marjan Shakiba, Mohammad Saberi","doi":"10.5812/ijem-158056","DOIUrl":"10.5812/ijem-158056","url":null,"abstract":"<p><strong>Introduction: </strong>Neonatal diabetes mellitus (NDM) is a rare disorder characterized by impaired blood glucose regulation that manifests before six months of age. Unlike autoimmune diabetes, NDM is caused by genetic mutations. One of the rarest causes of NDM is pancreatic agenesis, which results from mutations affecting the pancreas transcription factor 1A (<i>PTF1A</i>) gene and its enhancer. The following case report presents a rare instance of this condition.</p><p><strong>Case presentation: </strong>This report describes a 2-year-old male child born to consanguineous Iranian parents, diagnosed with NDM due to pancreatic agenesis caused by a rare mutation in the <i>PTF1A</i> enhancer. Hyperglycemia was detected from the first day of life, and ultrasonography confirmed the absence of pancreatic tissue. Molecular analysis revealed homozygosity for the g.23508437A > G variant within the enhancer region of the <i>PTF1A</i> gene. At two years of age, with pancreatic enzyme replacement and insulin therapy, the patient exhibits normal neurological development, and his physical growth is at the 38th percentile.</p><p><strong>Conclusions: </strong>Based on previous studies, the g.23508437A > G variant in the <i>PTF1A</i> gene enhancer region should be considered in cases of pancreatic agenesis. While whole-exome sequencing (WES) remains the gold standard for genetic diagnosis, it may fail to detect certain mutations. Therefore, targeted evaluation of <i>PTF1A</i> is essential when a genetic etiology is suspected.</p>","PeriodicalId":13969,"journal":{"name":"International Journal of Endocrinology and Metabolism","volume":"23 1","pages":"e158056"},"PeriodicalIF":2.1,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12118367/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144181325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}