Journal of Clinical Endocrinology & Metabolism最新文献

{"title":"Jansen's Disease: Bone Abnormalities Beyond Chondrodysplasia.","authors":"Renata C Pereira, Anne M Delany, Monica Reyes, Barbara Gales, Harald Jüppner, Isidro B Salusky","doi":"10.1210/clinem/dgaf097","DOIUrl":"10.1210/clinem/dgaf097","url":null,"abstract":"<p><strong>Context: </strong>Jansen metaphyseal chondrodysplasia (JMC) is an ultra-rare autosomal dominant disease that is caused by heterozygous, activating PTH1R mutations resulting in PTH- and PTHrP-independent hypercalcemia and hypercalciuria, leading to nephrocalcinosis and impaired renal function later in life. The activated PTH1R plays critical roles in mineral ion homeostasis and bone lengthening, as well as bone formation and resorption. Currently, little is known about bone turnover markers and bone histomorphometric changes in JMC patients.</p><p><strong>Objective: </strong>This study aimed to assess changes in bone microarchitecture, bone formation, and bone protein expression in 2 pediatric patients with JMC harboring the H223R-PTHR1 mutation.</p><p><strong>Methods: </strong>Bone histomorphometry, immunohistochemistry, and histologic analyses were conducted on iliac crest biopsy samples from 2 male siblings affected by JMC (ages 6 and 8 years) and 9 healthy control males of similar age, with normal kidney function.</p><p><strong>Results: </strong>Both patients with JMC displayed irregular bone architecture, increased osteoid, and a prolonged osteoid maturation process. While trabecular volume remained normal, immunohistochemical analysis demonstrated increased in PTH1R expression in both osteoblasts and fibroblastic cells on the bone surface. Cortical bone displayed areas of intense osteoclast activity and scattered marrow fibrosis. Remarkably, osteocytes in samples from patients with JMC had osteoid buildup within their lacunae and canaliculi that were both shorter and less abundant. DMP1 immunohistochemistry highlighted the abnormal canalicular network in patients. FGF23 staining in osteocytes was enhanced while sclerostin was diminished.</p><p><strong>Conclusion: </strong>The H223R-PTH1R mutation in patients with JMC leads to bone structural irregularities, hypomineralization, abnormal osteocyte morphology, and altered expression of osteocyte-derived proteins. These findings underscore the multifaceted impact of the mutant PTH1R on bone physiology and focus attention on the osteocyte as a cellular target for therapeutic intervention. Whether normalizing gene expression in osteocytes is possible and can improve bone health in patients with JMC remains to be seen. Assessment of osteocyte morphology and function may provide novel diagnostic endpoints for future clinical trials with JMC therapeutics.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"2729-2740"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12448618/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143416097","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}

{"title":"Phenotypes Linked to Duplication Upstream of SOX9: New Insights Into Presentation and Diagnosis.","authors":"Edip Unal, Aysel Tekmenuray-Unal, Atilla Cayir, Esra Deniz Papatya Cakir, Nurcan Beyazit, Baris Kolbasi, Busra Gurpinar Tosun, Gokhan Yigit, Arne Zibat, Bernd Wollnik, Huseyin Demirbilek, Tulay Guran","doi":"10.1210/clinem/dgaf020","DOIUrl":"10.1210/clinem/dgaf020","url":null,"abstract":"<p><strong>Context: </strong>Duplications occurring upstream of the SOX9 gene have been identified in a limited subset of patients with 46,XX testicular/ovotesticular differences/disorders of sex development (DSD). However, comprehensive understanding regarding their clinical presentation and diagnosis is limited.</p><p><strong>Objective: </strong>To gain further insight into the diagnosis of a large cohort of 46,XX individuals with duplications upstream of SOX9.</p><p><strong>Methods: </strong>We retrospectively analyzed data of 46,XX/SRY-negative individuals with SOX9 upstream duplications. Clinical data were recorded, and genetic etiologies were investigated using karyotyping, fluorescence in situ hybridization (FISH) for SRY analysis, microarray analysis, multiplex ligation-dependent probe amplification (MLPA) and next-generation sequencing panels including whole genome sequencing.</p><p><strong>Results: </strong>We analyzed 12 individuals with 46,XX karyotype who had heterozygous duplications upstream of SOX9, ranging from 107 to 941 kb. Ages at diagnosis ranged from 0.1 to 55 years. Seven (58%) had testicular/ovotesticular DSD, while 5 (41%) were asymptomatic carriers detected through family screening. There was no significant correlation between duplication size and genital/gonadal phenotype. The duplication was inherited from the father (n = 3) or an asymptomatic mother (n = 2). In one family, a duplication missed by the 300K microarray was detected by MLPA and confirmed with 750K microarray.</p><p><strong>Conclusion: </strong>46,XX individuals with SOX9 upstream duplications may exhibit no symptoms, but thorough family screening is crucial due to the potential inheritance and testicular/ovotesticular DSD risk in subsequent generations. We emphasize the effectiveness of high-resolution microarray analysis (>500K) as the primary diagnostic tool for 46,XX/SRY-negative testicular/ovotesticular DSD individuals, enabling thorough genome-wide assessment of copy number variations and detecting small alterations.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3482-e3488"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142985255","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}

{"title":"Evaluation of Quality and Bone Microarchitecture Alterations in Osteopetrosis Patients: Assessed by HR-PQCT.","authors":"Ruotong Zhou, Qianqian Pang, Xuan Qi, Yushuo Wu, Yue Chi, Lijia Cui, Ruizhi Jiajue, Xiang Li, Mei Li, Yan Jiang, Ou Wang, Xiaoping Xing, Li Zhang, Weibo Xia","doi":"10.1210/clinem/dgaf084","DOIUrl":"10.1210/clinem/dgaf084","url":null,"abstract":"<p><strong>Context: </strong>Osteopetrosis (OPT) is a rare skeletal disease characterized by high bone mass that has 2 major inheritance patterns: autosomal dominant osteopetrosis and autosomal recessive osteopetrosis (ARO). However, comprehensive descriptions of bone microarchitecture in OPT patients are limited.</p><p><strong>Objectives: </strong>The aim of this study was to comprehensively investigate the bone microarchitecture of OPT patients, explore age-related bone alterations, and describe the skeletal heterogeneity among different genotypes.</p><p><strong>Methods: </strong>Nine OPT patients, including 7 with autosomal dominant osteopetrosis and CLCN7 mutations, 1 ARO patient with CAII mutation, and 1 ARO patient with TCIRG1 mutation, were retrospectively enrolled in this study. Clinical and biochemical examinations were performed. Bone microstructure was investigated by high-resolution peripheral quantitative computed tomography.</p><p><strong>Results: </strong>Compared with age- and sex-matched healthy controls, OPT patients had greater total volumetric bone mineral density. In addition, trabecular bone was denser, with greater trabecular volumetric bone mineral density, increased trabecular number, and decreased trabecular separation. However, the cortical bone in OPT patients was weaker, characterized by increased cortical thickness and porosity. OPT patients exhibited characteristic patterns, including bone islets and uneven dense structures, on the representative reconstruction high-resolution peripheral quantitative computed tomography images. Skeletal heterogeneity across different genotypes was observed, with looser cortical bone in 1 OPT patient with CAII mutation and thicker cortical bone in 1 OPT patient with TCIRG1 mutation.</p><p><strong>Conclusion: </strong>Compared with healthy controls, OPT patients presented with denser trabecular bone, thicker but looser cortical bone, unique bone patterns, and skeletal heterogeneity. These results provide new insights into bone alterations in OPT patients.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3215-e3224"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143392225","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}

{"title":"Genetic Variants Associated With the Biochemical Response to Vitamin D3 in the Multi-Ethnic Study of Atherosclerosis.","authors":"Cora M Best, Xiaohui Li, Jerome I Rotter, David K Prince, Simon Hsu, Andrew N Hoofnagle, David Siscovick, Kent D Taylor, Kayleen Williams, Erin D Michos, Bruce M Psaty, Steven Shea, Kenneth M Rice, Karol E Watson, Norrina B Allen, Russell P Tracy, Cassianne Robinson-Cohen, Ian H de Boer, Bryan R Kestenbaum","doi":"10.1210/clinem/dgaf025","DOIUrl":"10.1210/clinem/dgaf025","url":null,"abstract":"<p><strong>Context: </strong>The response to treatment with vitamin D varies between patients.</p><p><strong>Objective: </strong>To identify genetic variants associated with the biochemical response to vitamin D3 supplementation.</p><p><strong>Design: </strong>Randomized placebo-controlled trial conducted between 2017 and 2019.</p><p><strong>Setting: </strong>The trial was nested in an ongoing community-based cohort study, the Multi-Ethnic Study of Atherosclerosis.</p><p><strong>Intervention: </strong>2000 International Units of vitamin D3 or placebo daily for 16 weeks.</p><p><strong>Participants: </strong>The analytic sample included 427 participants assigned to vitamin D3 (mean age, 73 years; 54% females) and was 36% White, 33% Black, 18% Hispanic, and 14% Chinese.</p><p><strong>Main outcome measures: </strong>The biochemical response to vitamin D3 included changes in serum concentrations of 1,25-dihydroxyvitamin D3 [1,25(OH)2D3], PTH, and 25-hydroxyvitamin D3 [25(OH)D3].</p><p><strong>Results: </strong>In genome-wide analyses, single nucleotide polymorphisms in 8 regions of the genome had significant association (P < 5E-08) with 1 of the traits (2 with change in 1,25(OH)2D3, 1 with change in PTH, and 5 with change in 25(OH)D3). rs16867276 within an intergenic region on 2q31 was associated with change in serum 1,25(OH)2D3 (+8.37 pg/mL difference per effect allele; P = 4.93E-08) and was the only locus that achieved genome-wide significance in transethnic meta-analysis. rs114044709 adjacent to FAM20A, which encodes a protein required for biomineralization, was associated with change in PTH among Black participants (+20.32 pg/mL difference per effect allele; P = 1.34E-08). In candidate analyses, single nucleotide polymorphisms within SULT2A1 and CYP24A1 had significant association (P < .05÷36 = .0014) with the changes in 1,25(OH)2D3 and PTH, respectively.</p><p><strong>Conclusion: </strong>Our results reveal potential new pathways of vitamin D regulation that require replication in other vitamin D trials.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"2903-2914"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12448636/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143015393","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}

{"title":"Clinical Course of COVID-19 in Children With Adrenal Insufficiency: Results From National Data.","authors":"Donatella Capalbo, Cristina Moracas, Laura Guazzarotti, Federico Baronio, Marianna Rita Stancampiano, Rita Ortolano, Mariella Valenzise, Carla Bizzarri, Giuseppa Patti, Silvia Longhi, Claudia Giavoli, Chiara Guzzetti, Silvia Zoletto, Crescenza Lattanzio, Paolo Cavarzere, Maria Elisabeth Street, Maria Felicia Faienza, Anna Grandone, Marco Cappa, Malgorzata Gabriela Wasniewska, Gianni Russo, Mohamad Maghnie, Mariacarolina Salerno","doi":"10.1210/clinem/dgaf076","DOIUrl":"10.1210/clinem/dgaf076","url":null,"abstract":"<p><strong>Context: </strong>There has been concern about a potential increase in the incidence or severity of coronavirus disease 2019 (COVID-19) in individuals with adrenal insufficiency (AI). Data on the course of SARS-CoV-2 infection in AI children are lacking.</p><p><strong>Objective: </strong>Evaluate whether children with AI are more susceptible to the infection or are at risk of severe COVID-19.</p><p><strong>Methods: </strong>In this multicenter, retrospective study among 1143 children with AI, 148 contracted SARS-CoV-2 (112 with primary, 36 with secondary AI) and were evaluated for severity and outcomes of infection, along with 74 control subjects with normal adrenal function.</p><p><strong>Results: </strong>The prevalence of COVID-19 in the AI cohort was 12.9%, not increased compared to pediatric Italian population in the same period. The severity was not increased in AI subjects and was classified as follows in patients vs controls: asymptomatic in 14.9% vs 10.8%; paucisymptomatic in 33.8% vs 37.8%; mild in 45.3% vs 45.9%; severe in 3.4% vs 2.7%; critical in 2.7% vs 2.7%. Among those with severe COVID, 4 patients with AI (2.7%) and 3 controls (4%) developed pneumonia while 3 patients with PAI (2%) and 2 controls (2.7%) developed multisystem inflammatory syndrome (P not statistically significant). Only 5 patients (3.4%) experienced an adrenal crisis during a severe COVID-19. The hospitalization rate was the same in patients vs controls (9.5%). All subjects completely recovered, and no COVID-related deaths were documented.</p><p><strong>Conclusion: </strong>Our findings do not indicate that AI is associated with increased susceptibility to SARS-CoV-2 infection or higher risk for severe COVID-19 in children.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3252-e3258"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12448629/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143371439","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}

{"title":"Cushing-induced Male Hypogonadism: Deciphering a Prevalent Yet Understudied Relationship.","authors":"Luigi Maione, Channa N Jayasena","doi":"10.1210/clinem/dgae731","DOIUrl":"10.1210/clinem/dgae731","url":null,"abstract":"","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3524-e3525"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142688508","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}

{"title":"Reversing Diabetes With Your Own Cells: Closer to the Dream.","authors":"Romi Genosar, Magdalena Maria Coman, Kevan C Herold","doi":"10.1210/clinem/dgae851","DOIUrl":"10.1210/clinem/dgae851","url":null,"abstract":"","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3522-e3523"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142824709","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}

{"title":"Insulitis and Exocrinitis in Autoantibody-positive Nondiabetic Individuals: Role of HLA Genotypes.","authors":"Marc Diedisheim, Roberto Mallone, Alberto Pugliese, Danièle Dubois-Laforgue, Etienne Larger","doi":"10.1210/clinem/dgaf039","DOIUrl":"10.1210/clinem/dgaf039","url":null,"abstract":"<p><strong>Context: </strong>Type 1 diabetes (T1D) is characterized by the presence of autoantibodies on a genetic background largely determined by HLA class II haplotypes. Stage 1 T1D is characterized by the presence of multiple autoantibodies and normoglycemia.</p><p><strong>Objective: </strong>To investigate the prevalence of high-risk HLA-DQB1 haplotypes and the extent of islet autoimmunity in pancreatic tissues from nondiabetic organ donors with autoantibodies.</p><p><strong>Design: </strong>We analyzed 117 virtual pancreatic slides from 30 antibody-positive nondiabetic donors from the Network for Pancreatic Organ Donors with Diabetes (nPOD).</p><p><strong>Patients: </strong>Thirty nondiabetic individuals positive for ≥1 autoantibody. HLA haplotypes were classified as at risk (DQ2, namely DQB1*02:01 and/or DQ8, namely DQB1*03:02), protective (DQ6, namely DQB1*06:02) or neutral (other HLA-DQ alleles).</p><p><strong>Main outcome measure: </strong>CD3+ lymphocyte infiltration of both endocrine and exocrine pancreas, according to HLA.</p><p><strong>Results: </strong>Among these 30 individuals with a median age of 25 years (interquartile range 21-39); median body mass index 24 kg/m2 (21-30), 23 were single autoantibody-positive and 7 were positive for 2 autoantibodies. β-cell mass was normal in all. HLA-DQ allele distribution was similar to that of autoantibody-negative nondiabetic nPOD donors and differed from that of nPOD donors with stage 3 T1D. Insulitis was identified only in 1 case. CD3+ lymphocyte densities did no correlate with HLA status or autoantibody number or titers, neither in islets nor in the exocrine pancreas.</p><p><strong>Conclusion: </strong>Contrary to stage 3 T1D, autoantibody-positive donors had normal β-cell mass and no significant insulitis, suggesting heterogeneity in the progression of autoimmunity, even in the presence of genetic risk, rather than a uniform slow-progressing process.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3376-e3382"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143054034","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}

{"title":"Body-weight Cycling and Risk of Diabetic Kidney Disease in People With Type 1 Diabetes in the DCCT/EDIC Population.","authors":"Marion Camoin, Kamel Mohammedi, Pierre-Jean Saulnier, Samy Hadjadj, Jean-François Gautier, Jean-Pierre Riveline, Nicolas Venteclef, Louis Potier, Gilberto Velho","doi":"10.1210/clinem/dgae852","DOIUrl":"10.1210/clinem/dgae852","url":null,"abstract":"<p><strong>Context: </strong>Intraindividual body-weight variability or cycling is associated with increased risk of chronic kidney disease (CKD) in the general population.</p><p><strong>Objective: </strong>We conducted a retrospective analysis of data from the Diabetes Control and Complications Trial (DCCT)/Epidemiology of Diabetes Interventions and Complications (EDIC) studies to assess association between body-weight cycling and the risk of renal events in type 1 diabetes.</p><p><strong>Methods: </strong>Four indices of intraindividual body-weight variability were calculated for 1432 participants of DCCT/EDIC taking into account body-weight measurements during the DCCT follow-up (6 ± 2 years). Variability independent of the mean (VIM) was the main index. Six criteria of progression to CKD were studied during DCCT/EDIC follow-up (21 ± 4 years). Hazard ratio (HR) with 95% confidence interval (CI) were computed in Cox analyses for 1 SD of the indices expressed as Z-score.</p><p><strong>Results: </strong>A high VIM was significantly associated with the incidence of a 40% decline in eGFR from baseline values (HR, 1.25; 95% CI, 1.09-1.41; P = .001), doubling of baseline serum creatinine (HR, 1.34; 95% CI, 1.13-1.57; P = .001), CKD stage 3 (HR, 1.36; 95% CI, 1.12-1.63; P = .002), and with a decline in eGFR > 3 mL/min/m2 per year (all analyses adjusted for CKD risk factors at baseline and follow-up, and use of nephroprotective drugs). VIM was also associated with the incidence of moderately and severely increased albuminuria, but associations did not remain significant following adjustment for follow-up covariates. Similar results were observed for the other indices of body-weight cycling.</p><p><strong>Conclusion: </strong>Body-weight cycling is significantly associated with an increased risk of kidney events in people with type 1 diabetes, regardless of body mass index and traditional risk factors.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3334-e3342"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143191131","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}

{"title":"Correlation of TgAb With Clinicopathological Features and Unfavorable Efficacy of 131I Ablation in PTC.","authors":"Xiang Xu, Chunling Zhang, Guoqiang Wang, Bingzi Dong, Yanjun Guo, Baodi Xing, Wenjuan Zhao, Yangang Wang, Kun Gong","doi":"10.1210/clinem/dgae898","DOIUrl":"10.1210/clinem/dgae898","url":null,"abstract":"<p><strong>Context: </strong>Papillary thyroid carcinoma (PTC) is the most common malignant thyroid cancer. Several clinicopathological features may affect therapeutic efficacy.</p><p><strong>Objective: </strong>To analyze the relationship between thyroglobulin antibodies (TgAb) with clinicopathological features and efficacy of 131I ablation in PTC patients.</p><p><strong>Methods: </strong>A total of 548 PTC patients who underwent total thyroidectomy and subsequent 131I ablation were enrolled. The clinicopathological features between TgAb-positive and TgAb-negative groups were compared. The clinicopathological characteristics and risk factors affecting the efficacy of 131I ablation were analyzed.</p><p><strong>Results: </strong>A total of 157 cases (28.65%) were in the preoperative TgAb-positive group and 391 cases (71.35%) were in the TgAb-negative group. The TgAb-positive group was younger and had a higher proportion of females, anti-thyroid peroxidase antibody (TPOAb) positivity, multiple foci, coexistence of PTC, Hashimoto thyroiditis, and increased TSH; they had reduced FT4 and FT3, and reduced BRAF positivity (all P < .05). Logistic regression analysis showed positive correlation between TgAb positivity and multifocality (P < .05). Compared with the noneffective group (88 cases, 16.06%), the effective group (460 cases, 84.94%) had a reduced proportion of TgAb positivity and multifocality, a shorter time interval between surgery and subsequent 131I ablation, and a lower proportion of initial 131I ablation dosage > 100 mCi (all P < .05). Logistic regression showed that TgAb positivity, longer time interval between surgery and subsequent 131I ablation, and initial 131I ablation dosage > 100 mCi were positively correlated with nonefficacy of 131I ablation (odds ratios 2.248, 1.012, and 3.128, respectively; P < .05).</p><p><strong>Conclusion: </strong>TgAb positivity is associated with increased risk of multiple foci and unfavorable efficacy of 131I ablation in PTC.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e3245-e3251"},"PeriodicalIF":5.1,"publicationDate":"2025-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143366753","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}