Journal of Clinical Endocrinology & Metabolism最新文献

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Approach to the Patient: Type 1 Diabetes Management With Exercise-Prepare, Perform, Stabilize, and Study. 治疗方法:1型糖尿病的运动管理-准备,执行,稳定和研究。
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-07-15 DOI: 10.1210/clinem/dgaf136
Joseph Henske, Lauren V Turner, Michael C Riddell
{"title":"Approach to the Patient: Type 1 Diabetes Management With Exercise-Prepare, Perform, Stabilize, and Study.","authors":"Joseph Henske, Lauren V Turner, Michael C Riddell","doi":"10.1210/clinem/dgaf136","DOIUrl":"10.1210/clinem/dgaf136","url":null,"abstract":"<p><p>Management of type 1 diabetes during physical activity and exercise remains challenging despite advancements in diabetes technology, including continuous glucose monitoring and automated insulin delivery systems. The approach to the patient as a healthcare provider involves careful consideration of numerous patient-specific goals and factors including a patient's motivations for regular physical activity and exercise, their baseline characteristics and exercise self-management knowledge base, features of the activity types being planned and/or performed, the timing of the various activities in relation to meals and insulin dosing, and the type of insulin therapy and other medications that may be used. Here we present a novel systematic approach to the patient and guidelines for clinical consultation using a \"Who, What, When, Where, Why, and How\" approach and consideration of the 4 key phases of exercise management: before, during, after, and between episodes-described here as prepare, perform, stabilize, and study. We offer this information using a case-based approach to illustrate these important considerations.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"2326-2338"},"PeriodicalIF":5.1,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143558685","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline. 成人x连锁低磷血症管理:国际工作组临床实践指南
IF 5.1 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-07-15 DOI: 10.1210/clinem/dgaf170
Aliya A Khan, Dalal S Ali, Natasha M Appelman-Dijkstra, Thomas O Carpenter, Catherine Chaussain, Erik A Imel, Suzanne M Jan de Beur, Pablo Florenzano, Hajar Abu Alrob, Rana Aldabagh, R Todd Alexander, Farah Alsarraf, Signe Sparre Beck-Nielsen, Martin Biosse-Duplan, Martine Cohen-Solal, Rachel K Crowley, Karel Dandurand, Guido Filler, Lisa Friedlander, Seiji Fukumoto, Claudia Gagnon, Paul Goodyer, Corinna Grasemann, Chelsey Grimbly, Salma Hussein, Muhammad K Javaid, Sarah Khan, Aneal Khan, Anna Lehman, Willem F Lems, E Michael Lewiecki, Ciara McDonnell, Reza D Mirza, Emmett Morgante, Archibald Morrison, Anthony A Portale, Yumie Rhee, Eric T Rush, Heide Siggelkow, Sotirios Tetradis, Laura Tosi, Leanne M Ward, Gordon Guyatt, Maria Luisa Brandi
{"title":"X-Linked Hypophosphatemia Management in Adults: An International Working Group Clinical Practice Guideline.","authors":"Aliya A Khan, Dalal S Ali, Natasha M Appelman-Dijkstra, Thomas O Carpenter, Catherine Chaussain, Erik A Imel, Suzanne M Jan de Beur, Pablo Florenzano, Hajar Abu Alrob, Rana Aldabagh, R Todd Alexander, Farah Alsarraf, Signe Sparre Beck-Nielsen, Martin Biosse-Duplan, Martine Cohen-Solal, Rachel K Crowley, Karel Dandurand, Guido Filler, Lisa Friedlander, Seiji Fukumoto, Claudia Gagnon, Paul Goodyer, Corinna Grasemann, Chelsey Grimbly, Salma Hussein, Muhammad K Javaid, Sarah Khan, Aneal Khan, Anna Lehman, Willem F Lems, E Michael Lewiecki, Ciara McDonnell, Reza D Mirza, Emmett Morgante, Archibald Morrison, Anthony A Portale, Yumie Rhee, Eric T Rush, Heide Siggelkow, Sotirios Tetradis, Laura Tosi, Leanne M Ward, Gordon Guyatt, Maria Luisa Brandi","doi":"10.1210/clinem/dgaf170","DOIUrl":"10.1210/clinem/dgaf170","url":null,"abstract":"<p><strong>Purpose: </strong>An international working group (IWG) consisting of experts in X-linked hypophosphatemia (XLH) developed global guidelines providing a comprehensive, evidence-based approach to XLH diagnosis, management, and monitoring.</p><p><strong>Methods: </strong>The IWG, consisting of 43 members as well as methodologists and a patient partner, conducted 2 systematic reviews (SRs) and narrative reviews to address key areas. The SRs addressed the impact of burosumab compared to conventional therapy (phosphate and active vitamin D) or no therapy on patient-important outcomes in adults. They also evaluated conventional therapy compared to no therapy. GRADE methodology was applied to evaluate the certainty of evidence. Non-GRADED recommendations were made in the presence of insufficient evidence to conduct SRs. These guidelines have been reviewed and endorsed by several medical and patient societies and organizations.</p><p><strong>Results: </strong>The diagnosis of XLH is based on integrating clinical evaluation, laboratory findings confirming renal phosphate wasting (following exclusion of conditions mimicking XLH), and skeletal imaging. Fibroblast growth factor 23 measurement and DNA analysis are of value in the diagnosis, if available. Pathogenic or likely pathogenic variants in the PHEX gene are confirmatory but not necessary for the diagnosis. Management requires a multidisciplinary team knowledgeable and experienced in XLH. Effective medical therapy with burosumab can improve fracture and pseudofracture healing.</p><p><strong>Main conclusion: </strong>In adults with XLH and fractures or pseudofractures, burosumab is recommended over no therapy (strong recommendation, GRADEd). Additionally, burosumab is suggested as the preferred treatment compared to conventional therapy (conditional recommendation, GRADEd) in the absence of fractures or pseudofractures. If burosumab is not available, symptomatic adults should be treated with conventional therapy (Non-GRADEd recommendation).</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"2353-2370"},"PeriodicalIF":5.1,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261105/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144040007","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Serum Metabolomic Profiling of Incident Type 2 Diabetes Mellitus in the Multi-ethnic Study of Atherosclerosis and Rotterdam Study. 多种族动脉粥样硬化研究和鹿特丹研究中 2 型糖尿病发病者的血清代谢组学分析。
IF 5 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-07-15 DOI: 10.1210/clinem/dgae812
Xuanwei Jiang, Fang Zhu, Gonçalo Graça, Xihao Du, Jinjun Ran, Fariba Ahmadizar, Alexis C Wood, Yanqiu Zhou, Denise M Scholtens, Ali Farzaneh, M Arfan Ikram, Alan Kuang, Carel W le Roux, Meghana D Gadgil, Marilyn C Cornelis, Kent D Taylor, Xiuqing Guo, Mohsen Ghanbari, Laura J Rasmussen-Torvik, Russell P Tracy, Alain G Bertoni, Jerome I Rotter, David M Herrington, Philip Greenland, Maryam Kavousi, Victor W Zhong
{"title":"Serum Metabolomic Profiling of Incident Type 2 Diabetes Mellitus in the Multi-ethnic Study of Atherosclerosis and Rotterdam Study.","authors":"Xuanwei Jiang, Fang Zhu, Gonçalo Graça, Xihao Du, Jinjun Ran, Fariba Ahmadizar, Alexis C Wood, Yanqiu Zhou, Denise M Scholtens, Ali Farzaneh, M Arfan Ikram, Alan Kuang, Carel W le Roux, Meghana D Gadgil, Marilyn C Cornelis, Kent D Taylor, Xiuqing Guo, Mohsen Ghanbari, Laura J Rasmussen-Torvik, Russell P Tracy, Alain G Bertoni, Jerome I Rotter, David M Herrington, Philip Greenland, Maryam Kavousi, Victor W Zhong","doi":"10.1210/clinem/dgae812","DOIUrl":"10.1210/clinem/dgae812","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to investigate serum metabolomic biomarkers associated with incident type 2 diabetes mellitus (T2DM) and evaluate their performance in improving T2DM risk prediction.</p><p><strong>Methods: </strong>Untargeted proton nuclear magnetic resonance (1H NMR) spectroscopy-based metabolomics analyses were conducted in the Multi-Ethnic Study of Atherosclerosis (MESA; n = 3460; discovery cohort) and The Rotterdam Study (RS; n = 1556; replication cohort). Multivariable cause-specific hazards models were used to analyze the associations between 23 571 serum metabolomic spectral variables and incident T2DM. Replicated metabolites required an false discovery rate-adjusted P < .01 in MESA, P < .05 in RS, and consistent direction of association. Pathway and network analyses were conducted to elucidate biological mechanisms underlying T2DM development. The utility of the replicated metabolites in improving T2DM risk prediction was assessed based on the Framingham Diabetes Risk Score. A 2-sample Mendelian randomization was conducted to assess causal associations.</p><p><strong>Results: </strong>Nineteen metabolites were significantly associated with incident T2DM. Pathway analyses revealed disturbances in aminoacyl-tRNA biosynthesis, metabolism of branched-chain amino acids (BCAAs), glycolysis/gluconeogenesis, and glycerolipid metabolism. Network analyses identified interactions with upstream regulators including p38 mitogen-activated protein kinases, c-Jun N-terminal kinase, and mammalian target of rapamycin signaling pathways. Adding replicated metabolites to the Framingham Diabetes Risk Score showed modest to moderate improvements in prediction performance in MESA and RS, with Δ C-statistic of 0.05 [95% confidence interval (CI), 0.04-0.07] in MESA and 0.03 (95% CI, 0.01-0.05) in RS. Genetically increased BCAAs and mannose were associated with T2DM.</p><p><strong>Conclusion: </strong>1H NMR measured metabolites involved in aminoacyl-tRNA biosynthesis, BCAA metabolism, glycolysis/gluconeogenesis, and glycerolipid metabolism were significantly associated with incident T2DM and provided modest to moderate predictive utility beyond traditional risk factors.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e2700-e2710"},"PeriodicalIF":5.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142682864","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Bone Microarchitecture Evaluated by HR-PQCT in Chinese Adolescent and Pediatric Patients With X-Linked Hypophosphatemia. 用 HR-pQCT 评估中国 X 连锁低磷血症青少年和儿童患者的骨微结构。
IF 5 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-07-15 DOI: 10.1210/clinem/dgae782
Yushuo Wu, Yisen Yang, Xiaosen Ma, Qianqian Pang, Yue Chi, Ruizhi Jiajue, Wei Liu, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Lijia Cui, Weibo Xia
{"title":"Bone Microarchitecture Evaluated by HR-PQCT in Chinese Adolescent and Pediatric Patients With X-Linked Hypophosphatemia.","authors":"Yushuo Wu, Yisen Yang, Xiaosen Ma, Qianqian Pang, Yue Chi, Ruizhi Jiajue, Wei Liu, Yan Jiang, Ou Wang, Mei Li, Xiaoping Xing, Lijia Cui, Weibo Xia","doi":"10.1210/clinem/dgae782","DOIUrl":"10.1210/clinem/dgae782","url":null,"abstract":"<p><strong>Context: </strong>X-linked hypophosphatemia (XLH) is the most common form of heritable hypophosphatemic rickets. Previous studies have found deteriorated bone microarchitecture in adults with XLH. Detailed studies on the skeletal microarchitecture of adolescent and pediatric patients with XLH are still lacking.</p><p><strong>Objective: </strong>This study aimed to evaluate bone geometry, density, microarchitecture, stiffness in adolescent and pediatric patients with XLH by using high-resolution peripheral quantitative computed tomography (HR-pQCT).</p><p><strong>Method: </strong>This study utilized HR-pQCT to assess bone geometry, density, microarchitecture, and stiffness in 106 Chinese adolescent and pediatric patients with XLH.</p><p><strong>Result: </strong>Compared with sex- and age-matched controls, patients with XLH had significantly higher trabecular area (Tb.Ar), lower total volumetric bone mineral density, lower cortical volumetric BMD (Ct.vBMD), and lower stiffness at both the distal radius and the tibia after adjusting for height and weight. Alkaline phosphatase Z score (ALP-Z), a marker to reflect the disease activity of rickets, was negatively correlated with Ct.vBMD and cortical thickness at the distal radius, and Ct.vBMD at the distal tibia, and positively correlated with cortical porosity at the distal tibia. We developed an online calculator to estimate Tb.Ar, Ct.vBMD, and stiffness of the distal tibia of adolescent and pediatric patients with XLH based on clinical general characteristic and biochemical indicators.</p><p><strong>Conclusion: </strong>The bone microarchitecture of adolescent and pediatric patients with XLH had deteriorated, and ALP-Z was negatively correlated with the skeletal quality of adolescent and pediatric patients with XLH, especially in the cortical bone. HR-pQCT parameters can be estimated using clinical characteristics and biochemical indicators, which may assist physicians to monitor the disease progression in areas without HR-pQCT access.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"2172-2181"},"PeriodicalIF":5.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142631642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
A Novel Y-Shaped Pegylated Recombinant Human Growth Hormone for Children With Growth Hormone Deficiency. 用于生长激素缺乏症儿童的新型 Y 型聚乙二醇化重组人生长激素:3 期研究。
IF 5 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-07-15 DOI: 10.1210/clinem/dgae816
Yan Liang, Haiyan Wei, Fan Yang, Hua Zhang, Linqi Chen, Hui Yao, Xiaoming Luo, Xinran Cheng, Yu Yang, Qun Lian, Hongwei Du, Tang Li, Pin Li, Gaixiu Zhang, Fuying Song, Liyang Liang, Deyun Liu, Shunye Zhu, Haihong Gong, Chunxiu Gong, Xiangao Cheng, Zhuangjian Xu, Yaping Ma, Zhe Su, Weidong Zhou, Ruoyi He, Yalin Yin, Li Sun, Xiaoping Luo
{"title":"A Novel Y-Shaped Pegylated Recombinant Human Growth Hormone for Children With Growth Hormone Deficiency.","authors":"Yan Liang, Haiyan Wei, Fan Yang, Hua Zhang, Linqi Chen, Hui Yao, Xiaoming Luo, Xinran Cheng, Yu Yang, Qun Lian, Hongwei Du, Tang Li, Pin Li, Gaixiu Zhang, Fuying Song, Liyang Liang, Deyun Liu, Shunye Zhu, Haihong Gong, Chunxiu Gong, Xiangao Cheng, Zhuangjian Xu, Yaping Ma, Zhe Su, Weidong Zhou, Ruoyi He, Yalin Yin, Li Sun, Xiaoping Luo","doi":"10.1210/clinem/dgae816","DOIUrl":"10.1210/clinem/dgae816","url":null,"abstract":"<p><strong>Context: </strong>Pegpesen is a novel Y-shape pegylated recombinant human growth hormone (rhGH) for once-weekly treatment of children with growth hormone deficiency (GHD).</p><p><strong>Objective: </strong>This work aimed to evaluate the efficacy and safety of Pegpesen in children with GHD vs daily rhGH.</p><p><strong>Methods: </strong>A multicenter, randomized, controlled phase 3 clinical trial was conducted at 23 centers in China with a duration of 52 weeks' treatment. There were 391 pediatric participants diagnosed with GHD. Participants were randomly assigned 2:1 to a weekly Pegpesen group (140 μg/kg/week) or a daily rhGH group (245 μg/kg/week) for 52 weeks. The primary end point was the growth velocity (GV) at 52 weeks, and the secondary end points mainly involved changes from baseline in height SD scores for chronological age and bone age (ΔHt SDS CA and ΔHt SDS BA).</p><p><strong>Results: </strong>At 52 weeks, the least squares mean (LS means) of GV was 9.910 cm/year in the Pegpesen group and 10.037 cm/year in the daily rhGH group. The LS means difference between groups was -0.127 (95% CI, -0.4868 to 0.2332), confirming that weekly Pegpesen is noninferior to daily rhGH. The LS means of ΔHt SDS CA, ΔHt SDS BA, were similar across both groups (all P > .05). Safety profiles and adherence were comparable.</p><p><strong>Conclusion: </strong>Pegpesen was noninferior to daily rhGH, with similar safety, lower dosage requirements, thus presenting a new therapeutic option for children with GHD.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e2605-e2613"},"PeriodicalIF":5.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12261095/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142741311","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Further Data Against the Use of Cyproterone Acetate in Gender-Affirming Hormone Therapy Regimens. 反对在性别平权激素治疗方案中使用醋酸环丙孕酮的进一步数据。
IF 5 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-07-15 DOI: 10.1210/clinem/dgae739
Daniel J Slack, Joshua D Safer
{"title":"Further Data Against the Use of Cyproterone Acetate in Gender-Affirming Hormone Therapy Regimens.","authors":"Daniel J Slack, Joshua D Safer","doi":"10.1210/clinem/dgae739","DOIUrl":"10.1210/clinem/dgae739","url":null,"abstract":"","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e2789-e2790"},"PeriodicalIF":5.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142479563","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Characterization of a Novel Variant in the NR3C1 Gene: Differentiating Glucocorticoid Resistance From Cushing Syndrome. NR3C1 基因新型变异的特征:区分糖皮质激素抵抗和库欣综合征。
IF 5 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-07-15 DOI: 10.1210/clinem/dgae829
Margaux Laulhé, Michal Yacobi Bach, Julie Perrot, Michal Gershinsky, Jérôme Fagart, Gabi Shefer, Larbi Amazit, Peter Kamenický, Say Viengchareun, Laetitia Martinerie, Yona Greenman
{"title":"Characterization of a Novel Variant in the NR3C1 Gene: Differentiating Glucocorticoid Resistance From Cushing Syndrome.","authors":"Margaux Laulhé, Michal Yacobi Bach, Julie Perrot, Michal Gershinsky, Jérôme Fagart, Gabi Shefer, Larbi Amazit, Peter Kamenický, Say Viengchareun, Laetitia Martinerie, Yona Greenman","doi":"10.1210/clinem/dgae829","DOIUrl":"10.1210/clinem/dgae829","url":null,"abstract":"<p><strong>Context: </strong>Primary generalized glucocorticoid resistance syndrome (GGRS) is a rare endocrine disease caused by loss-of-function variants of the NR3C1 gene encoding the glucocorticoid receptor (GR).</p><p><strong>Objective: </strong>We describe a novel heterozygous missense variant (NM_000176.3, c.1330T>G, p.Phe444Val) within the DNA-binding domain.</p><p><strong>Clinical case: </strong>Elevated urinary free cortisol levels were detected in a 59-year-old male patient before bariatric surgery (body mass index 39.9 kg/m2). Early-onset hypertension was well controlled. The low-dose dexamethasone suppression test was pathologic, but ACTH and midnight salivary cortisol levels were normal. The patient was initially referred to transsphenoidal surgery for a presumed diagnosis of Cushing disease. He presented to our department at the age of 68, when the clinical diagnosis of GGRS was established.</p><p><strong>Methods: </strong>Functional characterization of the variant was performed ex vivo through transient transfection assays in HEK 293T cells to assess transcriptional activity and nuclear translocation.</p><p><strong>Results: </strong>The variant showed a lack of transcriptional activity (GRWT: 91.5 [80.5; 101.2] vs GRF444V: 1.0 [1.0; 1.0]) despite efficient nuclear translocation in response to dexamethasone, suggesting a DNA binding defect of the variant. These results are discussed in the light of previously reported GGRS cases.</p><p><strong>Conclusion: </strong>We have described a novel heterozygous mutation of the NR3C1 gene associated with primary GGRS. This case highlights the importance of raising awareness of clinical and laboratory features of this rare disorder, to enable early diagnosis and avoid unnecessary and potentially dangerous diagnostic and therapeutic procedures.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e2621-e2630"},"PeriodicalIF":5.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142741313","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
Role of the GH-IGF Axis in Statural Growth and Harmonious Body Proportionality: In Search of Vitruvian Man? GH/IGF轴在自然生长和和谐身体比例中的作用:寻找维特鲁威人。
IF 5 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-07-15 DOI: 10.1210/clinem/dgae835
Jaime Guevara-Aguirre, George M Bright, Alexandra Guevara, Maria Tite, Jannette Saavedra, Enrique Teran, Ron G Rosenfeld
{"title":"Role of the GH-IGF Axis in Statural Growth and Harmonious Body Proportionality: In Search of Vitruvian Man?","authors":"Jaime Guevara-Aguirre, George M Bright, Alexandra Guevara, Maria Tite, Jannette Saavedra, Enrique Teran, Ron G Rosenfeld","doi":"10.1210/clinem/dgae835","DOIUrl":"10.1210/clinem/dgae835","url":null,"abstract":"<p><strong>Context: </strong>Body proportions are the objective parameters of harmonious growth and reflect the interplay of genetic, environmental, metabolic, and hormonal actions. Mutations in the growth hormone receptor gene (GHR) result in severe growth failure. The study of individuals affected with these mutations can inform us about the role of growth peptides in harmonious, proportional growth.</p><p><strong>Objective: </strong>The aim of this study was to critically assess the role of the growth hormone-insulin-like growth factor (GH-IGF) axis in statural growth and in particular body proportionality.</p><p><strong>Methods: </strong>In this epidemiological, noninterventional study, we compared the anthropometric measurements and body proportions of an Ecuadorian cohort of adults with GH insensitivity (GHI) due to a homozygous mutation at codon 180/exon 6 of GHR, to their carrier and noncarrier relatives, and to noncarrier unrelated controls. We also investigated the relations between serum IGF-I concentrations and auxological determinations.</p><p><strong>Results: </strong>In this cohort of 201 adults, sex-specific distributions of height (Ht), lower segment, upper segment, arm span, head circumference (HC), and hand and foot length were lower in the GHI individuals than in the other groups. The GHI individuals had the lowest lower segment/Ht, the highest upper segment/Ht, the lowest arm span/Ht and the highest HC/Ht ratio. Hand and foot length/Ht ratios were not uniformly affected. Serum IGF-I concentrations displayed a positive logarithmic correlation with all body measurements but were negatively correlated with the HC/Ht ratio.</p><p><strong>Conclusion: </strong>These findings indicate that individuals homozygous for the GHR mutation have disharmonious body proportions due to abnormal GH/IGF-I action on the growth of the long bones. Contrary to common assumptions, disruption of the GH-IGF axis results in disproportionality and disharmonious growth.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e2640-e2646"},"PeriodicalIF":5.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752206","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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 From Li and Lu: "Serum Steroid Profiling in the Diagnosis of Adrenocortical Carcinoma: A Prospective Cohort Study". Li和Lu给编辑的信:“血清类固醇谱分析在肾上腺皮质癌诊断中的应用:一项前瞻性队列研究”。
IF 5 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-07-15 DOI: 10.1210/clinem/dgaf292
Lin Li, Youyi Lu
{"title":"Letter to the Editor From Li and Lu: \"Serum Steroid Profiling in the Diagnosis of Adrenocortical Carcinoma: A Prospective Cohort Study\".","authors":"Lin Li, Youyi Lu","doi":"10.1210/clinem/dgaf292","DOIUrl":"10.1210/clinem/dgaf292","url":null,"abstract":"","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e2806-e2807"},"PeriodicalIF":5.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144087097","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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 Microbial Regulation Spectrum of Metformin in Patients With Type 2 Diabetes: An Individual-Based Meta-Analysis of 1431 Participants. 二甲双胍在2型糖尿病患者中的微生物调节谱:一项基于1431名参与者的个体荟萃分析
IF 5 2区 医学
Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-07-15 DOI: 10.1210/clinem/dgaf238
Wenquan Su, Yanan Yang, Jiale Cheng, Naijia Dong, Yuan Li, Qinhua Fan, Hai Lin, Shengxian Wu, Chongming Wu
{"title":"The Microbial Regulation Spectrum of Metformin in Patients With Type 2 Diabetes: An Individual-Based Meta-Analysis of 1431 Participants.","authors":"Wenquan Su, Yanan Yang, Jiale Cheng, Naijia Dong, Yuan Li, Qinhua Fan, Hai Lin, Shengxian Wu, Chongming Wu","doi":"10.1210/clinem/dgaf238","DOIUrl":"10.1210/clinem/dgaf238","url":null,"abstract":"<p><strong>Context: </strong>The gut microbiota plays a significant role in metformin efficacy and therapeutic response. However, studies often have produced inconsistent outcomes.</p><p><strong>Objective: </strong>To gain a more comprehensive understanding of the transformation of gut microbiota in persons with diabetes and the subsequent modifications following metformin intervention.</p><p><strong>Data sources: </strong>Seven databases were searched, from the inception of each database up to October 30, 2024. The raw sequence reads of 9 available datasets were downloaded from the National Center for Biotechnology Information (NCBI).</p><p><strong>Study selection: </strong>The process of selecting and assessing papers for this study was meticulously managed by 2 authors, working independently to screen and evaluate each publication.</p><p><strong>Data extraction: </strong>For the data extraction phase, a standardized form was employed, capturing critical details.</p><p><strong>Data synthesis: </strong>Metformin significantly boosts the presence of Akkermansia and short-chain fatty acid (SCFA)-producing bacteria, such as Pseudobutyrivibrio, Oribacterium, and Anaerotruncus, and it simultaneously diminishes pathogenic bacteria, including Enterobacillus, Gemmobacter, Shinella, Klebsiella, and Enterocloster. In addition, Bifidobacterium and Blautia were increased in patients with type 2 diabetes (T2D) but restored to near normal levels by metformin, and this alteration is region-specific.</p><p><strong>Conclusion: </strong>Our analysis delivers more concrete evidence regarding the shifts in gut microbiota following metformin treatment, significantly enriching our understanding of the interplay between gut microbiome dynamics and the management of T2D.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"2383-2403"},"PeriodicalIF":5.0,"publicationDate":"2025-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144047940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"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
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