European Journal of Endocrinology最新文献

筛选
英文 中文
Denosumab withdrawal increases vertebral fracture and mortality risk compared with zoledronate. 与唑来膦酸盐相比,停用Denosumab增加椎体骨折和死亡风险。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-03 DOI: 10.1093/ejendo/lvaf013
Ko-Hsiu Lu, Shiow-Ing Wang, Shun-Fa Yang
{"title":"Denosumab withdrawal increases vertebral fracture and mortality risk compared with zoledronate.","authors":"Ko-Hsiu Lu, Shiow-Ing Wang, Shun-Fa Yang","doi":"10.1093/ejendo/lvaf013","DOIUrl":"10.1093/ejendo/lvaf013","url":null,"abstract":"<p><strong>Objective: </strong>Rebound vertebral fractures (VFs) after denosumab (Dmab) withdrawal have been documented, highlighting the need for further research into this phenomenon and the importance of a well-planned strategy for discontinuing Dmab.</p><p><strong>Methods: </strong>From the TriNetX US network, we enrolled osteoporosis patients aged 50 years or older who had withdrawn from at least 2 doses of Dmab and compared them with a matched cohort who had received at least 1 dose of zoledronate (ZOL) before discontinuation. We analyzed hazard ratios (HRs) with 95% confidence intervals (CIs) and conducted Kaplan-Meier analyses, along with subgroup analyses, drug discontinuation modification, and sensitivity analyses.</p><p><strong>Results: </strong>After matching propensity scores (n = 10 422) between the 2 cohorts (Dmab: 11 104 and ZOL: 15 976), we found that the risks of VFs (HR = 1.479, 95% CI = 1.222-1.789) and its subcategories-thoracic (1.309, 1.023-1.674), lumbar (1.865, 1.425-2.440), and collapsed fractures (1.928, 1.462-2.542)-as well as all-cause mortality (1.588, 1.475-1.710), were significantly higher in the Dmab group compared with the ZOL group. Stratified analyses showed increased VF risks in Dmab patients who were female, aged 50-64, 65 years or older, and white, regardless of fracture history compared with those using ZOL.</p><p><strong>Conclusion: </strong>After adjusting for drug discontinuation, Dmab showed an increased risk of VFs within the first 2 years, contributing to an elevated overall mortality risk. Sensitivity analyses revealed consistent results across different regions.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"180-190"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143064561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical impact of variations in laboratory measurements of growth hormone and insulin-like growth factor I on the classification of acromegaly disease activity status in the United Kingdom. 生长激素和胰岛素样生长因子1实验室测量差异对英国肢端肥大症疾病活动状态分类的临床影响
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-03 DOI: 10.1093/ejendo/lvaf034
Paul Benjamin Loughrey, John Ayuk, Bilal Bashir, Claire E Higham, Jan Hoong Ho, Phillip J Monaghan, Gwen Wark, Safwaan Adam
{"title":"Clinical impact of variations in laboratory measurements of growth hormone and insulin-like growth factor I on the classification of acromegaly disease activity status in the United Kingdom.","authors":"Paul Benjamin Loughrey, John Ayuk, Bilal Bashir, Claire E Higham, Jan Hoong Ho, Phillip J Monaghan, Gwen Wark, Safwaan Adam","doi":"10.1093/ejendo/lvaf034","DOIUrl":"10.1093/ejendo/lvaf034","url":null,"abstract":"","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"L7-L11"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143556215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Socioeconomic status and its association with outcome in patients with Cushing's disease. 库欣病患者的社会经济地位及其与预后的关系
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-03 DOI: 10.1093/ejendo/lvaf021
Daniel Bengtsson, Jacob Järås, Pia Burman, Jeanette Wahlberg, Oskar Ragnarsson
{"title":"Socioeconomic status and its association with outcome in patients with Cushing's disease.","authors":"Daniel Bengtsson, Jacob Järås, Pia Burman, Jeanette Wahlberg, Oskar Ragnarsson","doi":"10.1093/ejendo/lvaf021","DOIUrl":"10.1093/ejendo/lvaf021","url":null,"abstract":"<p><strong>Objective: </strong>Cushing's disease (CD) is associated with severely impaired quality of life and shortened life expectancy. Little is known about the socioeconomic consequences of CD and their impact on long-term outcome.</p><p><strong>Methods: </strong>This was a nationwide study including 371 patients with CD (76% women), diagnosed between 1991 and 2018, and 4 matched controls per patient from the background population. Clinical data were retrieved from the national Swedish pituitary register and socioeconomic data were collected from national Swedish registers from up to 20 years before and up to 20 years after diagnosis.</p><p><strong>Results: </strong>The proportion of patients receiving disability pensions was increased, starting 6 years before diagnosis, and increased further thereafter, mainly due to mental and musculoskeletal disorders, to reach around 20%-25% during long-term follow-up. Low educational level in patients with CD was associated with lower rates of employment and increased mortality (adjusted hazard ratio 2.5, 95% CI 1.1-5.4).</p><p><strong>Conclusions: </strong>CD is associated with low socioeconomic status that is already noticeable 6 years before diagnosis and remains high during follow-up. Low socioeconomic status, in particular low educational level, is associated with adverse outcome. The findings indicate a need for proactive rehabilitation plans as part of standard management.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"159-169"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143457351","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Acromegaly and the risk of cancer: a nationwide population-based cohort study in Korea. 肢端肥大症与癌症风险:韩国一项基于全国人群的队列研究
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-03 DOI: 10.1093/ejendo/lvaf029
Yeo Song Kim, Jae-Seung Yun, Hyunho Kim, Sin Soo Jeun, Bongseong Kim, Sea-Won Lee, Jung Eun Lee, Kyuho Kim, Seung-Hyun Ko, Yu-Bae Ahn, Kyungdo Han, Seung Ho Yang
{"title":"Acromegaly and the risk of cancer: a nationwide population-based cohort study in Korea.","authors":"Yeo Song Kim, Jae-Seung Yun, Hyunho Kim, Sin Soo Jeun, Bongseong Kim, Sea-Won Lee, Jung Eun Lee, Kyuho Kim, Seung-Hyun Ko, Yu-Bae Ahn, Kyungdo Han, Seung Ho Yang","doi":"10.1093/ejendo/lvaf029","DOIUrl":"10.1093/ejendo/lvaf029","url":null,"abstract":"<p><strong>Introduction: </strong>Using a nationwide population-based cohort, we primarily investigated whether overall and site-specific cancer risks are increased in patients with acromegaly.</p><p><strong>Patients and methods: </strong>The study included 2382 patients with acromegaly and 11 910 controls aged above 20, from 2006 to 2016. Cox hazards regression analysis was used, adjusting for baseline covariates. To investigate the association between acromegaly and cancer risk, we conducted Cox proportional hazards regression analysis with adjustments for age, sex, hypertension, diabetes, and dyslipidemia, and stratified the analysis by age (<50, 50-64, and ≥65 years), sex, and follow-up duration (<1, 1-4, and ≥5 years).</p><p><strong>Results: </strong>Among the 2382 patients with acromegaly, overall cancer occurred in 244 (10.2%), while the 11 910 controls had 707 (5.9%) occurrences (HR: 1.90 (95% confidence interval (CI): 1.63-2.22). Patients with acromegaly had the highest relative risk for brain cancers with an HR of 6.80 (95% CI: 2.83-16.38) and significantly higher risk of lymphoma, thyroid cancer, multiple myeloma, pancreatic cancer, and colorectal cancer. Even 5 years after the diagnosis of acromegaly, patients continued to show a significantly higher incidence of cancer. The overall cancer risk, particularly for stomach cancer, was significantly higher in patients under the age of 50 compared to older patients. No significant difference was observed between sexes.</p><p><strong>Conclusions: </strong>This nationwide longitudinal cohort study shows an increased risk of cancer in patients with acromegaly Active and long-term cancer screening is necessary in patients with acromegaly.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"220-227"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143556208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Novel ultrasound-guided adrenal venous sampling in iodine contrast intolerant patients: two case reports. 新型超声引导肾上腺静脉取样治疗碘造影剂不耐受患者:两例报告。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-03 DOI: 10.1093/ejendo/lvaf024
Yoshiaki Hishida, Kazuki Hashimoto, Ryota Mochizuki, Hiroki Yasuda, Tomoyuki Nagasaka, Yuki Deguchi, Yoshiya Sugiura, Kenichi Yokota, Nobuyuki Ohike, Masakatsu Sone
{"title":"Novel ultrasound-guided adrenal venous sampling in iodine contrast intolerant patients: two case reports.","authors":"Yoshiaki Hishida, Kazuki Hashimoto, Ryota Mochizuki, Hiroki Yasuda, Tomoyuki Nagasaka, Yuki Deguchi, Yoshiya Sugiura, Kenichi Yokota, Nobuyuki Ohike, Masakatsu Sone","doi":"10.1093/ejendo/lvaf024","DOIUrl":"10.1093/ejendo/lvaf024","url":null,"abstract":"<p><p>Adrenal venous sampling (AVS) is an important procedure for determining primary aldosteronism (PA) subtypes. To guide the catheter to the adrenal veins and confirm cannulation, an iodinated contrast medium (ICM) is typically used. As an ultrasound-based device, the AcuNav intracardiac echocardiography (ICE) catheter allows for real-time visualization of vessels, offering a safer and less invasive option for patients at risk of using ICM. This report introduces a novel AVS technique using the AcuNav ICE catheter in two patients with PA with contraindications to ICM. One patient had a documented ICM allergy, and the other had active bronchial asthma. The AcuNav ICE catheter successfully enabled cannulation of the adrenal veins in both cases without the need for ICM or alternative agents. This ultrasound-guided technique is novel for AVS and highlights the potential of this method for broader applications in the management of patients with PA with ICM intolerance.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"K21-K25"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143491290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Primary hyperparathyroidism induces erythropoietin resistance through fibroblast growth factor 23. 原发性甲状旁腺功能亢进通过FGF23诱导促红细胞生成素抵抗。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-03 DOI: 10.1093/ejendo/lvaf039
Aurélie Huber, Marco Demarchi, Thomas Verissimo, Marylise Fernandez, Anne Dufey, Lena Berchtold, Delal Dalga, Frédéric Triponez, Samira M Sadowski, Belen Ponte, Sophie de Seigneux
{"title":"Primary hyperparathyroidism induces erythropoietin resistance through fibroblast growth factor 23.","authors":"Aurélie Huber, Marco Demarchi, Thomas Verissimo, Marylise Fernandez, Anne Dufey, Lena Berchtold, Delal Dalga, Frédéric Triponez, Samira M Sadowski, Belen Ponte, Sophie de Seigneux","doi":"10.1093/ejendo/lvaf039","DOIUrl":"10.1093/ejendo/lvaf039","url":null,"abstract":"<p><strong>Introduction: </strong>Primary hyperparathyroidism (PHPT) often causes hypercalcemia and complications requiring parathyroidectomy (PTX). Anemia affects 15%-50% of PHPT patients, but its mechanisms remain unclear. While parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF23) contribute to anemia in secondary hyperparathyroidism through erythropoietin (EPO) resistance and bone marrow fibrosis, their roles in PHPT are less defined. This study explores the effect of PHPT on erythropoiesis by assessing hemoglobin (Hb), EPO, and FGF23 levels before and after PTX.</p><p><strong>Methods: </strong>In a monocentric longitudinal study (2018-2020), PHPT patients scheduled for PTX were followed for 6 months. Blood and urine samples were collected at baseline (surgery day), at 10 days and 6 months postsurgery. Pearson correlation assessed relationships between Hb, EPO, PTH, FGF23, calcium, and phosphate at baseline and 6 months. Mixed-effects models evaluated the impact of PTH and FGF23 on Hb, adjusting for confounders.</p><p><strong>Results: </strong>In a cohort of 111 PHPT patients (81% women, median age 64, normal body mass index), anemia prevalence decreased from 9.9% at baseline to 2.7% 6 months post-PTX, despite stable EPO levels. Postsurgery, PTH, FGF23, and calcium significantly decreased. PTH did not significantly correlate with Hb or EPO at any time point. Before surgery, FGF23 negatively correlated with Hb (R = -0.20, P = .020) and positively correlated with log-EPO (R = 0.38, P < .001). Mixed-effects models showed no predictive effect of PTH on Hb. However, multivariable models indicated a significant association between FGF23 and declining Hb (β = -.01, 95% confidence interval [-0.02; -0.01]).</p><p><strong>Conclusion: </strong>Anemia in PHPT is linked to elevated FGF23 levels, potentially causing EPO resistance.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"290-298"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143604458","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Impact of remission status in endogenous Cushing's syndrome on cancer incidence. 内源性库欣综合征缓解状态对肿瘤发病率的影响。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-03 DOI: 10.1093/ejendo/lvaf028
Yaron Rudman, Maria Fleseriu, Hiba Masri-Iraqi, Tzipora Shochat, Shiri Kushnir, Ilan Shimon, Amit Akirov
{"title":"Impact of remission status in endogenous Cushing's syndrome on cancer incidence.","authors":"Yaron Rudman, Maria Fleseriu, Hiba Masri-Iraqi, Tzipora Shochat, Shiri Kushnir, Ilan Shimon, Amit Akirov","doi":"10.1093/ejendo/lvaf028","DOIUrl":"10.1093/ejendo/lvaf028","url":null,"abstract":"<p><strong>Objective: </strong>Endogenous Cushing's syndrome (CS) has been linked with an increased risk of cancer. We aimed to evaluate the association between cancer risk and disease remission postsurgery in adrenal CS and Cushing's disease (CD).</p><p><strong>Design: </strong>A nationwide retrospective matched-cohort study of patients with CS diagnosed between 2000 and 2023 in Israel, using Clalit Health Services' database.</p><p><strong>Methods: </strong>Patients with CS were matched 1:5 with controls by age, sex, socioeconomic status, and BMI. Remission status postsurgery was assessed within 2 years after the diagnosis of CS. The outcome measured was time to first diagnosis of malignancy, at least 3 years post-CS diagnosis, excluding those who died or developed cancer earlier. Malignancy risk, stratified by remission status, was evaluated using Cox proportional hazards with death as a competing event.</p><p><strong>Results: </strong>The cohort comprised 388 cases and 1862 controls [mean age at diagnosis, 47.4 ± 16.8 years; 1534 (68.2%) women]. Among patients with CD, those who did not achieve remission within 2 years postdiagnosis (n = 69) had a higher risk of malignancy compared to those who achieved remission (n = 99) (HR 3.89, 95% CI 1.41-10.75). Cancer risk in patients with CD who achieved remission was similar to that of the controls (HR 0.58, 95% CI .23-1.47). In patients with adrenal CS, the risk of cancer was comparable between those who did not achieve early remission (n = 39) and those who did (n = 113) (HR 1.68, 95% CI .83-3.40).</p><p><strong>Conclusion: </strong>Though cancer risk is higher in both CD and adrenal CS, we have shown that achieving surgical remission within 2 years may attenuate cancer risk in patients with CD, but not in those with adrenal CS.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"266-276"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143491288","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The PCOS Phenotype in Unselected Populations study: ethnic variation in population-based normative cut-offs for defining hirsutism. 非选择人群(P-PUP)中的多囊卵巢综合征表型研究:基于人群的多毛症定义标准截断的种族差异。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-03 DOI: 10.1093/ejendo/lvaf030
Asmamaw Demis Bizuneh, Anju E Joham, Chau Thien Tay, Sylvia Kiconco, Arul Earnest, Raja Ram Dhungana, Larisa V Suturina, Xiaomiao Zhao, Alessandra Gambineri, Fahimeh Ramezani Tehrani, Bulent O Yildiz, Jin Ju Kim, Liangzhi Xu, Christian Chigozie Makwe, Helena J Teede, Ricardo Azziz
{"title":"The PCOS Phenotype in Unselected Populations study: ethnic variation in population-based normative cut-offs for defining hirsutism.","authors":"Asmamaw Demis Bizuneh, Anju E Joham, Chau Thien Tay, Sylvia Kiconco, Arul Earnest, Raja Ram Dhungana, Larisa V Suturina, Xiaomiao Zhao, Alessandra Gambineri, Fahimeh Ramezani Tehrani, Bulent O Yildiz, Jin Ju Kim, Liangzhi Xu, Christian Chigozie Makwe, Helena J Teede, Ricardo Azziz","doi":"10.1093/ejendo/lvaf030","DOIUrl":"10.1093/ejendo/lvaf030","url":null,"abstract":"<p><strong>Objective: </strong>Hirsutism, a diagnostic feature of polycystic ovary syndrome (PCOS), is often defined using arbitrary percentile cutoffs, rather than normative cutoffs from population-based data. We aimed to define normative cutoffs for hirsutism in diverse populations.</p><p><strong>Design: </strong>Unselected population-based cluster analysis of individual participant data (IPD).</p><p><strong>Methods: </strong>The PCOS Phenotype in Unselected Populations (P-PUP) study IPD asset of community-based studies, underwent k-means cluster analysis, of directly assessed hirsutism, using the modified Ferriman-Gallwey (mFG) visual scale. The primary outcome was ethnicity-specific normative cutoffs for the mFG score. Medians and cutoffs were compared across ethnic groups.</p><p><strong>Results: </strong>We included 9829 unselected, medically unbiased participants, aged 18-45 years from 12 studies conducted across 8 countries including China, Iran, Italy, Nigeria, Russia, South Korea, Turkey, and the United States. The mFG cutoff scores for hirsutism on cluster analysis varied across ethnicities, ranging from 4 to 8. White Iranians had the highest cutoff score of 8, followed by White Italians and Black Africans of 7. Asian Han Chinese, White Russian, Turkish, and Black Americans shared a cutoff of 5; White Americans, Asian Koreans, Asian Russians, and Mixed Russians shared a cutoff of 4. Comparing medians and mFG cutoffs across ethnicities confirmed the same differences.</p><p><strong>Conclusion: </strong>This study confirms the 2023 International PCOS Guidelines recommendations defining hirsutism as an mFG score between 4 and 6 for the majority of populations studied, with few exceptions. However, we also highlight ethnic variation in mFG cutoff scores, suggesting that clinicians consider ethnicity in optimal diagnosis and personalized interventions.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"228-239"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143556157","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rare ZMPSTE24 variants increase risk of hypertriglyceridemia and metabolic syndrome. 罕见的ZMPSTE24变异增加了高甘油三酯血症和代谢综合征的风险。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-03 DOI: 10.1093/ejendo/lvaf031
Lauriane Le Collen, Camille Desgrouas, Céline Lukas Croisier, Brunot Creugnet, Aurélie Dechaume, Bénédicte Toussaint, Emmanuel Vaillant, Souhila Amanzougarene, Emmanuel Buse Falay, Mehdi Derhourhi, Alexandre Lourdelle, Brigitte Delemer, Nathalie Bonello-Palot, Martine Vaxillaire, Catherine Badens, Philippe Froguel, Amélie Bonnefond
{"title":"Rare ZMPSTE24 variants increase risk of hypertriglyceridemia and metabolic syndrome.","authors":"Lauriane Le Collen, Camille Desgrouas, Céline Lukas Croisier, Brunot Creugnet, Aurélie Dechaume, Bénédicte Toussaint, Emmanuel Vaillant, Souhila Amanzougarene, Emmanuel Buse Falay, Mehdi Derhourhi, Alexandre Lourdelle, Brigitte Delemer, Nathalie Bonello-Palot, Martine Vaxillaire, Catherine Badens, Philippe Froguel, Amélie Bonnefond","doi":"10.1093/ejendo/lvaf031","DOIUrl":"10.1093/ejendo/lvaf031","url":null,"abstract":"<p><strong>Objective: </strong>The global increase in the prevalence of metabolic syndrome represents a significant public health concern. Rare biallelic pathogenic variants in ZMPSTE24 have been identified as the cause of mandibuloacral dysplasia type B, ie, a lipodystrophy syndrome associated with metabolic complications. The role of monoallelic pathogenic variants in ZMPSTE24 concerning metabolic syndrome remains uncertain.</p><p><strong>Design: </strong>Case report and systematic review of literature.</p><p><strong>Methods: </strong>We investigated a Wallisian family with FPLD and metabolic syndrome via whole-exome sequencing. We performed functional analyses of an identified rare ZMPSTE24 variant. To broadly assess the effect of heterozygous pathogenic ZMPSTE24 variants on FPLD-associated phenotypes, and metabolic syndrome, we used the Human Gene Mutation Database (HGMD) and 200 K exome data from UK Biobank.</p><p><strong>Results: </strong>We investigated a Wallisian family where a 40-year-old female with metabolic syndrome was found to carry a rare heterozygous missense variant in ZMPSTE24. Functional assays showed a decreased prelamin to lamin A maturation and accelerated senescence. In silico analysis demonstrated that this variant might disrupt the lamin A binding site. We then analyzed the impact of monoallelic pathogenic ZMPSTE24 variants on metabolic traits using data from the HGMD and the UK Biobank. In HGMD, ZMPSTE24 variants carriers presented with dyslipidemia and hepatic steatosis. In the UK Biobank, monoallelic pathogenic variants were associated with an increased risk of hypertriglyceridemia, with a trend toward metabolic syndrome.</p><p><strong>Conclusions: </strong>This study underscores the association of ZMPSTE24 rare variants with metabolic disorders and emphasizes the need for further research to clarify their clinical implications.</p>","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"240-247"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143491291","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Letter to the Editor: "Mechanisms in endocrinology: hypogonadism and metabolic health in men-novel insights into pathophysiology". 致编辑的信:“内分泌学机制:男性性腺功能减退和代谢健康——病理生理学的新见解”。
IF 5.3 1区 医学
European Journal of Endocrinology Pub Date : 2025-03-03 DOI: 10.1093/ejendo/lvaf042
Yu-Hsiang Lin, Tsung-Hsing Chen, Kuo-Jen Lin
{"title":"Letter to the Editor: \"Mechanisms in endocrinology: hypogonadism and metabolic health in men-novel insights into pathophysiology\".","authors":"Yu-Hsiang Lin, Tsung-Hsing Chen, Kuo-Jen Lin","doi":"10.1093/ejendo/lvaf042","DOIUrl":"10.1093/ejendo/lvaf042","url":null,"abstract":"","PeriodicalId":11884,"journal":{"name":"European Journal of Endocrinology","volume":" ","pages":"L12-L13"},"PeriodicalIF":5.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143582205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信