Pub Date : 2026-01-30DOI: 10.1016/j.eprac.2026.01.022
Dongxu Han, Bingxin Li, Jingnan Liu, Liqin Chen, Hongxia Wang, Lingdan Yuan, Miao Xuan, Lige Song
Objectives: This study aimed to compare the anti-osteoporotic efficacy of zoledronic acid (ZOL) with denosumab (DEN) in osteoporosis patients with type 2 diabetes mellitus (T2DM).
Methods: This was a prospective, open-label, non-randomized clinical study. Osteoporotic women with T2DM aged 50 to 80 years were enrolled and assigned to either the ZOL group (n = 45) or the DEN group (n = 75) based on patient preference. The efficacy endpoint included the percent change from baseline in bone mineral density (BMD), bone turnover markers (BTMs) and the fracture risk evaluated by the fracture risk assessment tool (FRAX®) after 1 year. The propensity score-matched analysis was performed to confirm the robustness.
Results: After 1-year of treatment, DEN was more effective than ZOL at increasing femoral neck BMD (least-squares mean difference 4.59% [95% CI: 0.93% to 8.25%]; P=0.017), but not at BMD in the lumbar spine or total hip. Besides, compared with the ZOL group, the DEN group demonstrated greater suppression of osteocalcin (least-squares mean difference -20.58% [95% CI: -39.93 to -1.24]; P=0.041) and a greater reduction in major osteoporotic fracture risk (least-squares mean difference -11.20% [95% CI: -20.76 to -1.64]; P=0.025).
Conclusions: The results suggest that DEN should be considered as a potentially better option for T2DM patients who have low femoral neck BMD.
{"title":"Superior Efficacy of Denosumab over Zoledronic Acid in Increasing Femoral Neck Bone Mineral Density in Osteoporosis Patients with Type 2 Diabetes Mellitus.","authors":"Dongxu Han, Bingxin Li, Jingnan Liu, Liqin Chen, Hongxia Wang, Lingdan Yuan, Miao Xuan, Lige Song","doi":"10.1016/j.eprac.2026.01.022","DOIUrl":"https://doi.org/10.1016/j.eprac.2026.01.022","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to compare the anti-osteoporotic efficacy of zoledronic acid (ZOL) with denosumab (DEN) in osteoporosis patients with type 2 diabetes mellitus (T2DM).</p><p><strong>Methods: </strong>This was a prospective, open-label, non-randomized clinical study. Osteoporotic women with T2DM aged 50 to 80 years were enrolled and assigned to either the ZOL group (n = 45) or the DEN group (n = 75) based on patient preference. The efficacy endpoint included the percent change from baseline in bone mineral density (BMD), bone turnover markers (BTMs) and the fracture risk evaluated by the fracture risk assessment tool (FRAX®) after 1 year. The propensity score-matched analysis was performed to confirm the robustness.</p><p><strong>Results: </strong>After 1-year of treatment, DEN was more effective than ZOL at increasing femoral neck BMD (least-squares mean difference 4.59% [95% CI: 0.93% to 8.25%]; P=0.017), but not at BMD in the lumbar spine or total hip. Besides, compared with the ZOL group, the DEN group demonstrated greater suppression of osteocalcin (least-squares mean difference -20.58% [95% CI: -39.93 to -1.24]; P=0.041) and a greater reduction in major osteoporotic fracture risk (least-squares mean difference -11.20% [95% CI: -20.76 to -1.64]; P=0.025).</p><p><strong>Conclusions: </strong>The results suggest that DEN should be considered as a potentially better option for T2DM patients who have low femoral neck BMD.</p>","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146100188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objectives: The impact of the ketogenic diet (KD) on lipid metabolism remains inconclusive. To address this gap, we conducted a meta-regression analysis of randomized controlled trials to evaluate the overall influence of KD on lipid profile parameters in adults.
Methods: A comprehensive search of 5 major electronic databases was carried out using predefined keywords to identify randomized controlled trials assessing the effects of KD on lipid outcomes. Pooled weighted mean differences with 95% confidence intervals were calculated employing a random-effects model.
Results: Sixty-two studies were analyzed. The meta-analysis results from the included randomized controlled trials indicated a significant decrease in triglyceride levels (weighted mean difference [WMD]: -19.96 mg/dl, 95% CI: -26.10 to -13.81) and the triglyceride/high-density lipoprotein-cholesterol (HDL-C) ratio (WMD: -0.31, 95% CI: -0.49 to -0.12), despite a notable increase in HDL-C (WMD: 3.61 mg/dl, 95% CI: 1.44 to 5.57), low-density lipoprotein-cholesterol (LDL-C) (WMD: 8.49 mg/dl, 95% CI: 5.45 to 11.52), and total cholesterol (WMD: 8.14 mg/dl, 95% CI: 3.41 to 12.88) concentrations following KD compared to the control group. However, LDL-C levels increased by 8.49 mg/dL, which may carry potential adverse implications. Furthermore, the findings indicated a linear correlation between alterations in HDL-C and the duration of KD intervention.
Conclusions: The ketogenic diet significantly improves triglycerides and HDL-C but also leads to modest increases in LDL-C. Given the lack of long-term cardiovascular outcome data, these findings should be interpreted with caution.
{"title":"The Impact of the Ketogenic Diet on the Lipid Profile in Adults: A Comprehensive Review and Meta-Regression Analysis of Randomized Controlled Trials.","authors":"Chaoyue Chang, Yuxia Liu, Pejman Rohani, Navideh Khodadadi, Kousalya Prabahar, Mohammad Hassan Sohouli","doi":"10.1016/j.eprac.2026.01.009","DOIUrl":"10.1016/j.eprac.2026.01.009","url":null,"abstract":"<p><strong>Objectives: </strong>The impact of the ketogenic diet (KD) on lipid metabolism remains inconclusive. To address this gap, we conducted a meta-regression analysis of randomized controlled trials to evaluate the overall influence of KD on lipid profile parameters in adults.</p><p><strong>Methods: </strong>A comprehensive search of 5 major electronic databases was carried out using predefined keywords to identify randomized controlled trials assessing the effects of KD on lipid outcomes. Pooled weighted mean differences with 95% confidence intervals were calculated employing a random-effects model.</p><p><strong>Results: </strong>Sixty-two studies were analyzed. The meta-analysis results from the included randomized controlled trials indicated a significant decrease in triglyceride levels (weighted mean difference [WMD]: -19.96 mg/dl, 95% CI: -26.10 to -13.81) and the triglyceride/high-density lipoprotein-cholesterol (HDL-C) ratio (WMD: -0.31, 95% CI: -0.49 to -0.12), despite a notable increase in HDL-C (WMD: 3.61 mg/dl, 95% CI: 1.44 to 5.57), low-density lipoprotein-cholesterol (LDL-C) (WMD: 8.49 mg/dl, 95% CI: 5.45 to 11.52), and total cholesterol (WMD: 8.14 mg/dl, 95% CI: 3.41 to 12.88) concentrations following KD compared to the control group. However, LDL-C levels increased by 8.49 mg/dL, which may carry potential adverse implications. Furthermore, the findings indicated a linear correlation between alterations in HDL-C and the duration of KD intervention.</p><p><strong>Conclusions: </strong>The ketogenic diet significantly improves triglycerides and HDL-C but also leads to modest increases in LDL-C. Given the lack of long-term cardiovascular outcome data, these findings should be interpreted with caution.</p>","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146100141","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-30DOI: 10.1016/j.eprac.2026.01.020
Jason Silvestre, Aundrea E Loftley, Robert J Ferdon, Robert A Ravinsky, Harsha Karanchi
Objective: Previous studies have highlighted emerging deficiencies in the U.S. endocrinologist workforce. Yet, few studies have analyzed the training pathway for endocrinologists. The purpose of this study was to define the annual number of applicants and training positions for U.S. endocrinology training.
Methods: This was a cross-sectional study of applicants for endocrinology, diabetes, and metabolism fellowship training in the United States (2009 to 2025). Annual match outcomes were calculated, and trends were assessed with linear regression.
Results: From 2009 to 2025, there was growth in the annual number of endocrinology training positions (223 to 386, 73.1% increase, P < .001) and number of applicants (325 to 488, 50.2% increase, P < .001). The annual applicant-to-training position ratio decreased (1.46 to 1.26, P < .001), while the annual match rate increased (60.0% to 77.9%, P < .001). The annual rate of unfilled training positions decreased over the study period (12.6% to 1.6%, P < .001). The annual representation of U.S. allopathic medical school graduates decreased (50.8% to 30.0%, P < .001), while the annual representation of non-U.S. allopathic medical school graduates increased (49.2% to 70.0%, P < .001) among matched endocrinology fellows. Annual match rates for U.S. allopathic medical school graduates exceeded those for non-U.S. allopathic medical school graduates (90.7% vs 67.7%, P < .001).
Conclusions: Growth in endocrinology training positions has exceeded growth in the number of applicants. Surveillance of match outcomes is warranted as anticipated shortages of endocrinologists may trigger potential deleterious consequences for population health needs.
{"title":"National Trends in the Supply and Demand for Endocrinology, Diabetes, and Metabolism Training in the United States.","authors":"Jason Silvestre, Aundrea E Loftley, Robert J Ferdon, Robert A Ravinsky, Harsha Karanchi","doi":"10.1016/j.eprac.2026.01.020","DOIUrl":"10.1016/j.eprac.2026.01.020","url":null,"abstract":"<p><strong>Objective: </strong>Previous studies have highlighted emerging deficiencies in the U.S. endocrinologist workforce. Yet, few studies have analyzed the training pathway for endocrinologists. The purpose of this study was to define the annual number of applicants and training positions for U.S. endocrinology training.</p><p><strong>Methods: </strong>This was a cross-sectional study of applicants for endocrinology, diabetes, and metabolism fellowship training in the United States (2009 to 2025). Annual match outcomes were calculated, and trends were assessed with linear regression.</p><p><strong>Results: </strong>From 2009 to 2025, there was growth in the annual number of endocrinology training positions (223 to 386, 73.1% increase, P < .001) and number of applicants (325 to 488, 50.2% increase, P < .001). The annual applicant-to-training position ratio decreased (1.46 to 1.26, P < .001), while the annual match rate increased (60.0% to 77.9%, P < .001). The annual rate of unfilled training positions decreased over the study period (12.6% to 1.6%, P < .001). The annual representation of U.S. allopathic medical school graduates decreased (50.8% to 30.0%, P < .001), while the annual representation of non-U.S. allopathic medical school graduates increased (49.2% to 70.0%, P < .001) among matched endocrinology fellows. Annual match rates for U.S. allopathic medical school graduates exceeded those for non-U.S. allopathic medical school graduates (90.7% vs 67.7%, P < .001).</p><p><strong>Conclusions: </strong>Growth in endocrinology training positions has exceeded growth in the number of applicants. Surveillance of match outcomes is warranted as anticipated shortages of endocrinologists may trigger potential deleterious consequences for population health needs.</p>","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146100062","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-30DOI: 10.1016/j.eprac.2025.12.026
Lakshmi Nagendra, Khushboo Agarwal, Nitin Kapoor, Saptarshi Bhattacharya, Khayati Moudgil, A B M Kamrul-Hasan, Syed Abbas Raza, Varsha Bangalee, Sourabh Sharma, Mohammad Wali Naseri, Payal Buckoreelall Chintaram, Dayakshi D K Abeyaratne, Shahjada Selim, Hidayat Kassim, G P Dhakal, Dina Shrestha, Moosa Murad, Hinde Iraqi, Hedson Alves Martins, Charlotte Bavuma Munganyinka, Abodo Jacko, Sedrik Ahomagnon, Ankia Coetzee, Sanjay Kalra
{"title":"Redefining Osteoporosis: A Global Call for Equity, Evidence, and Access- Perspectives from Asia and Africa.","authors":"Lakshmi Nagendra, Khushboo Agarwal, Nitin Kapoor, Saptarshi Bhattacharya, Khayati Moudgil, A B M Kamrul-Hasan, Syed Abbas Raza, Varsha Bangalee, Sourabh Sharma, Mohammad Wali Naseri, Payal Buckoreelall Chintaram, Dayakshi D K Abeyaratne, Shahjada Selim, Hidayat Kassim, G P Dhakal, Dina Shrestha, Moosa Murad, Hinde Iraqi, Hedson Alves Martins, Charlotte Bavuma Munganyinka, Abodo Jacko, Sedrik Ahomagnon, Ankia Coetzee, Sanjay Kalra","doi":"10.1016/j.eprac.2025.12.026","DOIUrl":"https://doi.org/10.1016/j.eprac.2025.12.026","url":null,"abstract":"","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146100143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Objective: This meta-analysis aimed to evaluate the success rate and safety of adrenal venous sampling (AVS) via the antecubital approach and to compare these outcomes with the femoral approach.
Methods: A systematic search was performed in PubMed, Embase, Cochrane Library, Web of Science, and Wanfang Data from inception to May 1, 2025. The primary outcome was the success rate of right and left adrenal vein cannulation. Secondary outcomes included procedure-related complications, fluoroscopy time, and contrast agent volume. Comparative outcomes were reported as odds ratios (ORs) and weighted mean differences (WMDs).
Results: A total of 11 studies involving 2332 patients with primary aldosteronism undergoing AVS were included. The antecubital approach for AVS showed no statistically significant differences compared with the femoral approach in right adrenal vein cannulation success rate (antecubital single-arm pooled estimate: 91.9%, 95% CI: 85.26% to 95.70%; comparative analysis: OR 1.43, 95% CI: 0.23-9.04), left adrenal vein cannulation success rate (95.35%, 95% CI: 94.34% to 96.19%; OR 1.44, 95% CI: 0.63-3.28), procedure-related complications (0.36%, 95% CI: 0.07% to 0.79%; OR 0.51, 95% CI: 0.17-1.60), fluoroscopy time (7.64 minutes, 95% CI: 6.12-9.16; WMD 0.62 minutes, 95% CI: -0.75 to 1.99), or contrast agent volume (19.37 mL, 95% CI: 15.9-22.83; WMD 0.19 mL, 95% CI: -0.57 to 0.96).
Conclusion: Antecubital AVS demonstrated acceptable success rates and safety, particularly in moderate- to high-volume centers, without clear inferiority to the femoral approach.
{"title":"Success Rate and Safety of Adrenal Venous Sampling via the Antecubital Approach: A Systematic Review and Meta-Analysis.","authors":"Zhitian Huang, Hongwu Li, Kaiwen Jiang, Wentao Ma, Yubao Zou, Hui Dong, Xiongjing Jiang","doi":"10.1016/j.eprac.2026.01.021","DOIUrl":"10.1016/j.eprac.2026.01.021","url":null,"abstract":"<p><strong>Objective: </strong>This meta-analysis aimed to evaluate the success rate and safety of adrenal venous sampling (AVS) via the antecubital approach and to compare these outcomes with the femoral approach.</p><p><strong>Methods: </strong>A systematic search was performed in PubMed, Embase, Cochrane Library, Web of Science, and Wanfang Data from inception to May 1, 2025. The primary outcome was the success rate of right and left adrenal vein cannulation. Secondary outcomes included procedure-related complications, fluoroscopy time, and contrast agent volume. Comparative outcomes were reported as odds ratios (ORs) and weighted mean differences (WMDs).</p><p><strong>Results: </strong>A total of 11 studies involving 2332 patients with primary aldosteronism undergoing AVS were included. The antecubital approach for AVS showed no statistically significant differences compared with the femoral approach in right adrenal vein cannulation success rate (antecubital single-arm pooled estimate: 91.9%, 95% CI: 85.26% to 95.70%; comparative analysis: OR 1.43, 95% CI: 0.23-9.04), left adrenal vein cannulation success rate (95.35%, 95% CI: 94.34% to 96.19%; OR 1.44, 95% CI: 0.63-3.28), procedure-related complications (0.36%, 95% CI: 0.07% to 0.79%; OR 0.51, 95% CI: 0.17-1.60), fluoroscopy time (7.64 minutes, 95% CI: 6.12-9.16; WMD 0.62 minutes, 95% CI: -0.75 to 1.99), or contrast agent volume (19.37 mL, 95% CI: 15.9-22.83; WMD 0.19 mL, 95% CI: -0.57 to 0.96).</p><p><strong>Conclusion: </strong>Antecubital AVS demonstrated acceptable success rates and safety, particularly in moderate- to high-volume centers, without clear inferiority to the femoral approach.</p>","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146100153","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-30DOI: 10.1016/j.eprac.2026.01.010
Leidy Plaza Enriquez, Rana Ibrahim, Lena Ayari, Ralitza Gavrilova, Yogish Kudva
Objective: Mitochondrial diabetes (mtDB) is a rare form of diabetes with limited information regarding its clinical spectrum and long-term outcomes. This study aimed to describe the glycemic control, treatment patterns, and associated comorbidities among patients with mtDB.
Methods: We identified 30 patients with diabetes and confirmed mitochondrial mutations, predominantly the MT-TL1 m.3243A>G variant (n = 28). Monogenic diabetes genes, including MODY-associated variants, were not evaluated. Statistical analyses were performed using BlueSky Statistics (v10.3.4). Categorical variables were assessed using Fisher exact and analysis of variance tests, and continuous variables using univariate analysis.
Results: The cohort was 63.3% female, with a mean age at diabetes diagnosis of 38.0 (±13.0) years for females and 34.6 (±13.7) years for males. More than 70% were initially misdiagnosed with type 2 diabetes, resulting in an average diagnosis delay of 9.3 years from the date of their diabetes diagnosis. Mean body mass index at diagnosis was 25 kg/m2 (±11.3). The cohort demonstrated a high burden of comorbidities-including retinopathy, neurological disease, cardiac arrhythmias, nephropathy, and gastrointestinal disorders-many of which preceded diabetes onset. Glycemic control remained stable, with more than 90% maintaining HbA1c <8%. Treatment modality (insulin vs noninsulin) did not significantly impact HbA1c levels (mean 6.85%), though the study's descriptive design and small sample size may limit interpretability. Mean survival after mtDB diagnosis was 8 years (±10.3), and 4 patients died from mitochondrial disorder-related complications.
Conclusion: mtDB is frequently misdiagnosed as type 2 diabetes and is associated with multisystem comorbidities. Earlier recognition and individualized management strategies are essential to improve outcomes.
{"title":"Comprehensive Phenotype and Treatment Description of Mitochondrial Diabetes: Insights From a Large Cohort Study.","authors":"Leidy Plaza Enriquez, Rana Ibrahim, Lena Ayari, Ralitza Gavrilova, Yogish Kudva","doi":"10.1016/j.eprac.2026.01.010","DOIUrl":"10.1016/j.eprac.2026.01.010","url":null,"abstract":"<p><strong>Objective: </strong>Mitochondrial diabetes (mtDB) is a rare form of diabetes with limited information regarding its clinical spectrum and long-term outcomes. This study aimed to describe the glycemic control, treatment patterns, and associated comorbidities among patients with mtDB.</p><p><strong>Methods: </strong>We identified 30 patients with diabetes and confirmed mitochondrial mutations, predominantly the MT-TL1 m.3243A>G variant (n = 28). Monogenic diabetes genes, including MODY-associated variants, were not evaluated. Statistical analyses were performed using BlueSky Statistics (v10.3.4). Categorical variables were assessed using Fisher exact and analysis of variance tests, and continuous variables using univariate analysis.</p><p><strong>Results: </strong>The cohort was 63.3% female, with a mean age at diabetes diagnosis of 38.0 (±13.0) years for females and 34.6 (±13.7) years for males. More than 70% were initially misdiagnosed with type 2 diabetes, resulting in an average diagnosis delay of 9.3 years from the date of their diabetes diagnosis. Mean body mass index at diagnosis was 25 kg/m<sup>2</sup> (±11.3). The cohort demonstrated a high burden of comorbidities-including retinopathy, neurological disease, cardiac arrhythmias, nephropathy, and gastrointestinal disorders-many of which preceded diabetes onset. Glycemic control remained stable, with more than 90% maintaining HbA1c <8%. Treatment modality (insulin vs noninsulin) did not significantly impact HbA1c levels (mean 6.85%), though the study's descriptive design and small sample size may limit interpretability. Mean survival after mtDB diagnosis was 8 years (±10.3), and 4 patients died from mitochondrial disorder-related complications.</p><p><strong>Conclusion: </strong>mtDB is frequently misdiagnosed as type 2 diabetes and is associated with multisystem comorbidities. Earlier recognition and individualized management strategies are essential to improve outcomes.</p>","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146100005","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-30DOI: 10.1016/j.eprac.2025.08.011
Parth Aphale, Himanshu Shekhar, Shashank Dokania
{"title":"Comment on Frey et al A Real-World Pharmacovigilance Analysis of Lorlatinib-Associated Metabolic Effects Using the FDA Adverse Events Reporting System (FAERS) Database From 2013 to 2024.","authors":"Parth Aphale, Himanshu Shekhar, Shashank Dokania","doi":"10.1016/j.eprac.2025.08.011","DOIUrl":"10.1016/j.eprac.2025.08.011","url":null,"abstract":"","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146100030","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-30DOI: 10.1016/j.eprac.2026.01.015
Lindsey Grater, Zoe Hawkins, Afif Ben-Mahmoud, Hyung-Goo Kim, Lawrence C Layman
Objectives: Idiopathic hypogonadotropic hypogonadism and Kallmann syndrome are rare disorders of deficient gonadotropin-releasing hormone migration, secretion, and/or action causing delayed or absent puberty and infertility. Variants in >50 genes have been reported as causative, but many lack functional validation, potentially overestimating pathogenicity. We hypothesized that the number of true causative variants, when classified by the American College of Medical Genetics and Genomics (ACMG) guidelines, is fewer than reported.
Methods: We reviewed literature for variants in the 27 Online Mendelian Inheritance in Man-established causative genes for idiopathic hypogonadotropic hypogonadism/Kallmann syndrome. Variants were identified through database and literature searches. Publications were screened for variants explicitly reported by authors as causative or equivalent terminology. The reported variants were reclassified using VarSome and ClinVar applying 2015 ACMG criteria. Publications were categorized as preguidelines (≤2015) or postguidelines (>2015) for comparative analysis.
Results: Two hundred seventy-three publications met inclusion, yielding 933 variants. VarSome classified 444/933 (47.6%) as pathogenic/likely pathogenic (P/LP), 249 (26.7%) as variants of uncertain significance (VUS), and 240 (25.7%) as benign/likely benign (B/LB). ClinVar classified 171/933 (18.3%) as P/LP, 104 (11.1%) as VUS, 68 (7.3%) as B/LB, 85 (9.1%) as conflicting, 13 (1.4%) as risk factor, and 492 (52.7%) as lacking entries. In VarSome, 37.2% of P/LP and 84.3% of VUS were missense.
Conclusions: Just under half of the reported variants were reclassified as P/LP by VarSome, whereas one-fourth were VUS and one-fourth B/LB. ClinVar called <20% of these P/LP. These findings highlight overestimation of pathogenicity and the need for standardized variant interpretation using supportive evidence consistent with ACMG guidelines.
{"title":"Overestimation of Pathogenic Variants in Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome.","authors":"Lindsey Grater, Zoe Hawkins, Afif Ben-Mahmoud, Hyung-Goo Kim, Lawrence C Layman","doi":"10.1016/j.eprac.2026.01.015","DOIUrl":"10.1016/j.eprac.2026.01.015","url":null,"abstract":"<p><strong>Objectives: </strong>Idiopathic hypogonadotropic hypogonadism and Kallmann syndrome are rare disorders of deficient gonadotropin-releasing hormone migration, secretion, and/or action causing delayed or absent puberty and infertility. Variants in >50 genes have been reported as causative, but many lack functional validation, potentially overestimating pathogenicity. We hypothesized that the number of true causative variants, when classified by the American College of Medical Genetics and Genomics (ACMG) guidelines, is fewer than reported.</p><p><strong>Methods: </strong>We reviewed literature for variants in the 27 Online Mendelian Inheritance in Man-established causative genes for idiopathic hypogonadotropic hypogonadism/Kallmann syndrome. Variants were identified through database and literature searches. Publications were screened for variants explicitly reported by authors as causative or equivalent terminology. The reported variants were reclassified using VarSome and ClinVar applying 2015 ACMG criteria. Publications were categorized as preguidelines (≤2015) or postguidelines (>2015) for comparative analysis.</p><p><strong>Results: </strong>Two hundred seventy-three publications met inclusion, yielding 933 variants. VarSome classified 444/933 (47.6%) as pathogenic/likely pathogenic (P/LP), 249 (26.7%) as variants of uncertain significance (VUS), and 240 (25.7%) as benign/likely benign (B/LB). ClinVar classified 171/933 (18.3%) as P/LP, 104 (11.1%) as VUS, 68 (7.3%) as B/LB, 85 (9.1%) as conflicting, 13 (1.4%) as risk factor, and 492 (52.7%) as lacking entries. In VarSome, 37.2% of P/LP and 84.3% of VUS were missense.</p><p><strong>Conclusions: </strong>Just under half of the reported variants were reclassified as P/LP by VarSome, whereas one-fourth were VUS and one-fourth B/LB. ClinVar called <20% of these P/LP. These findings highlight overestimation of pathogenicity and the need for standardized variant interpretation using supportive evidence consistent with ACMG guidelines.</p>","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146100087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-30DOI: 10.1016/j.eprac.2026.01.026
Antonio Musolino, Vittoria Favero, Grzegorz Bilo, Alessandro Croce, Martino Pengo, Gianfranco Parati, Luca Persani, Alfredo Scillitani, Iacopo Chiodini, Valentina Morelli
{"title":"Response to the Letter to the Editor: \"Hypertensive Hypercortisolism: What Does 1.14 μg/dL Really Mean?\"","authors":"Antonio Musolino, Vittoria Favero, Grzegorz Bilo, Alessandro Croce, Martino Pengo, Gianfranco Parati, Luca Persani, Alfredo Scillitani, Iacopo Chiodini, Valentina Morelli","doi":"10.1016/j.eprac.2026.01.026","DOIUrl":"10.1016/j.eprac.2026.01.026","url":null,"abstract":"","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146100114","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-01-30DOI: 10.1016/j.eprac.2026.01.007
David T W Lui, Yu-Cho Woo, Manju Chandran
{"title":"Opportunities to Improve Osteoporosis Management in the Absence of Dual-Energy X-ray Absorptiometry.","authors":"David T W Lui, Yu-Cho Woo, Manju Chandran","doi":"10.1016/j.eprac.2026.01.007","DOIUrl":"10.1016/j.eprac.2026.01.007","url":null,"abstract":"","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":" ","pages":""},"PeriodicalIF":4.6,"publicationDate":"2026-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146100022","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}