Journal of the Endocrine Society最新文献

{"title":"Response to Letter to the Editor from Tapia-Castillo et al.: Considerations About the Indirect Role of Low Cortisone in Subjects With Normal Cortisol to Cortisone Ratio","authors":"D. Armanini, C. Sabbadin","doi":"10.1210/jendso/bvae139","DOIUrl":"https://doi.org/10.1210/jendso/bvae139","url":null,"abstract":"","PeriodicalId":510471,"journal":{"name":"Journal of the Endocrine Society","volume":"8 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141797333","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Letter to the Editor from Tapia-Castillo et al.: Considerations About the Indirect Role of Low Cortisone in Subjects With Normal Cortisol to Cortisone Ratio","authors":"Alejandra Tapia-Castillo, Cristian A Carvajal, Carlos E Fardella","doi":"10.1210/jendso/bvae138","DOIUrl":"https://doi.org/10.1210/jendso/bvae138","url":null,"abstract":"","PeriodicalId":510471,"journal":{"name":"Journal of the Endocrine Society","volume":"14 12","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141799299","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cardiometabolic Risk Markers in Children with Obesity and Variants in MC4R pathway-related Genes","authors":"Mostafa Salama, F. Pinto e Vairo, R. Hentz, Alaa Al Nofal, Sara Hassan, Samar H Ibrahim, Aida Lteif, A. Creo, S. Pittock, Seema Kumar","doi":"10.1210/jendso/bvae137","DOIUrl":"https://doi.org/10.1210/jendso/bvae137","url":null,"abstract":"\u0000 \u0000 \u0000 Variants in melanocortin 4 receptor (MC4R) pathway-related genes have been associated with obesity. The association of these variants with cardiometabolic parameters are not fully known.\u0000 \u0000 \u0000 \u0000 We compared the severity of obesity and cardiometabolic risk markers in children with MC4R pathway-related clinically reported genetic variants relative to children without these variants.\u0000 \u0000 \u0000 \u0000 A retrospective chart review was performed in children with obesity who underwent multi-gene panel testing for monogenic obesity.\u0000 \u0000 \u0000 \u0000 Data on a total of 104 children were examined, with 93 (89%) identified as white.39 (37.5%) patients had clinically reported variants in the MC4R pathway, and the remaining 65 patients did not have reported MC4R pathway-related variants. Amongst the MC4R related variants, PCSK1 risk alleles were most common, reported in 15 children (14%). The maximum BMI % of the 95th percentile was not different between both groups (p = 0.116). Low density lipoprotein cholesterol (LDL-C) was not different between both groups (P = 0.132). However, subgroup analysis demonstrated higher LDL cholesterol in children with the PCSK1 c.661A>G risk allele relative to those with MC4R related VUS (p = 0.047), negative genetic testing (P = 0.012) and those with non-MC4R related variants (P = 0.048). The blood pressure, fasting glucose, hemoglobin A1C, total cholesterol, ALT, and high-density lipoprotein cholesterol were not different between both groups.\u0000 \u0000 \u0000 \u0000 Variants in the MC4R pathway-related genes were not associated with severity of obesity and cardiometabolic risk markers except for the c.661A>G PCSK1 risk allele, which was associated with higher LDL-C levels.\u0000","PeriodicalId":510471,"journal":{"name":"Journal of the Endocrine Society","volume":"14 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141804425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Potential mediating role of iron biomarkers in the association of sex with glucose, insulin, and type 2 diabetes","authors":"F. Khatami, Theis Lange, D. Groothof, N. Ahanchi, Hugo G. Quezada-Pinedo, H. Raeisi-Dehkordi, M. D. de Borst, P. Vidal, Mohan Sailesh, D. Prabhakaran, A. Bano, Stephan J. L. Bakker, T. Muka, M. Eisenga","doi":"10.1210/jendso/bvae098","DOIUrl":"https://doi.org/10.1210/jendso/bvae098","url":null,"abstract":"\u0000 \u0000 \u0000 Sex-specific prevalence and incidence of type 2 diabetes (T2D) have been reported, but the underlying mechanisms are uncertain.\u0000 \u0000 \u0000 \u0000 In this study, we aimed to investigate whether iron biomarkers mediate the association between biological sex and glucose metabolism and the incidence of T2D.\u0000 \u0000 \u0000 \u0000 We used data from the general population enrolled in the prospective Prevention of REnal and Vascular ENd-stage Disease study in Groningen, Netherlands. We measured ferritin, transferrin saturation (TSAT), hepcidin, soluble transferrin receptor (sTfR), fasting plasma glucose (FPG), fasting plasma insulin (FPI) levels, and incidence of T2D. We used multivariable regression and mediation analyses to investigate our hypothesis. All iron biomarkers, FPG, and FPI were log-transformed.\u0000 \u0000 \u0000 \u0000 The mean (SD) age of the 5,312 (51.3% female) individuals was 52.2 (11.6) years. Compared with males, females had lower FPG (β= -0.01; 95%CI = -0.02, -0.01) and FPI (β= -0.03; 95%CI = -0.05, -0.02) levels. Ferritin, hepcidin, and sTfR showed potential mediating effects on the association between sex and FPG, 21%, 5%, and 7.1%, respectively. Furthermore, these variables mediated 48.6%, 5.7%, and 3.1% of the association between sex and FPI, respectively. Alternatively, TSAT had a suppressive mediating role in the association of sex with FPG and FPI. The incidence of T2D was lower in females than in males (HR = 0.58; 95%CI = 0.44, 0.77), with 19.2% of this difference being mediated by ferritin.\u0000 \u0000 \u0000 \u0000 Iron biomarkers may partially mediate the association between sex and glucose homeostasis. Future studies addressing the causality of our findings are needed.\u0000","PeriodicalId":510471,"journal":{"name":"Journal of the Endocrine Society","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140969253","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Patient Characteristics, Management, and Outcomes in a Novel Cohort of Primary Hyperparathyroidism","authors":"V. Sant, Y. Elnakieb, Christoph U Lehmann, Justin F. Rousseau, N. Maalouf","doi":"10.1210/jendso/bvae096","DOIUrl":"https://doi.org/10.1210/jendso/bvae096","url":null,"abstract":"\u0000 \u0000 \u0000 Primary hyperparathyroidism (PHPT) increases the risk of bone loss, debilitating fractures, kidney stones, impaired renal function, and neurocognitive symptoms. Studies describing the natural history of PHPT have been limited to small samples, single-institutions, or specific populations.\u0000 \u0000 \u0000 \u0000 We assessed the natural history of PHPT through a large, diverse national cohort from an electronic health record (EHR) dataset representing over 100 million patients.\u0000 \u0000 \u0000 \u0000 The TriNetX database was queried for adult patients with PHPT. We extracted demographics, comorbidities, and longitudinal biochemistries. Primary outcomes included major osteoporotic fracture (MOF) and chronic kidney disease (CKD). Outcomes were stratified by treatment strategy (surgical parathyroidectomy (PTX) vs non-surgical) and age.\u0000 \u0000 \u0000 \u0000 Among 49,119 patients with PHPT, 23.6% were treated surgically at a median of 2.0 years post-diagnosis. At diagnosis, median age was 72 years, 73.2% were female, and median calcium level was 10.9 mg/dL. Black and older patients underwent PTX less frequently than white and younger patients. MOF 10-year incidence was 4.5% (PTX) and 6.7% (non-surgical), with median 2.7-year delay with PTX compared to non-surgical. PTX-associated MOF absolute risk reduction (ARR) was 0.54% (age < 65) and 2.42% (age ≥ 65). CKD 10-year incidence was 22.1% (PTX) and 33.5% (non-surgical), with median 2.8-year delay with PTX. PTX-associated CKD ARR was 17.1% (age < 65) and 8.28% (age ≥ 65).\u0000 \u0000 \u0000 \u0000 We report one of the largest, representative, population-based natural histories of PHPT with different management strategies. A minority of patients underwent PTX, especially in older age. Patients managed surgically had lower incidence of fracture and CKD, and older patients experienced differential benefit.\u0000","PeriodicalId":510471,"journal":{"name":"Journal of the Endocrine Society","volume":" 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140996621","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Maximising the sensitivity of bilateral inferior petrosal sinus sampling","authors":"A. Kelsall, John Newell-Price","doi":"10.1210/jendso/bvae094","DOIUrl":"https://doi.org/10.1210/jendso/bvae094","url":null,"abstract":"","PeriodicalId":510471,"journal":{"name":"Journal of the Endocrine Society","volume":" 28","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140999087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Identification of predictors of metastatic potential in paragangliomas to develop a prognostic score (PSPGL)","authors":"Daniela Yone Veiga Iguchi, S. N. Martins Filho, I. C. Soares, Sheila Aparecida Coelho Siqueira, Venâncio Avancini Ferreira Alves, A. Assato, Ji Hoon Yang, Madson Q. Almeida, Maria Candida B V Fragoso, G. Fagundes, B. Mendonca, Delmar Muniz Lourenço Junior, Ana O Hoff, L. A. Castroneves, Bruno Ferraz-de-Souza, M. Giannella, Maria Adelaide A Pereira","doi":"10.1210/jendso/bvae093","DOIUrl":"https://doi.org/10.1210/jendso/bvae093","url":null,"abstract":"\u0000 \u0000 \u0000 Paragangliomas (PGLs) are rare tumors in adrenal and extra-adrenal locations. Metastasis are found in approximately 5-35% of PGLs and there are no reliable predictors of metastatic disease.\u0000 \u0000 \u0000 \u0000 To develop a prognostic score of metastatic potential in PGLs.\u0000 \u0000 \u0000 \u0000 Retrospective analysis of clinical data of a cohort with PGL and tumor histological assessment. Patients were divided into metastatic PGL (presence of metastasis) and non-metastatic PGL (absence of metastasis ≥96 months of follow up) groups. Univariate and multivariate analysis were performed to identify predictors of metastatic potential. A prognostic score was developed based on coefficients of multivariate analysis. Kaplan Meier curves were generated to estimate Disease Specific Survival (DSS).\u0000 \u0000 \u0000 \u0000 Out of 263 patients, 35 patients had metastatic PGL and 110 patients had non-metastatic PGL. In multivariate analysis, four features were independently related to metastatic disease and composed the Prognostic Score of Paragangliomas (PSPGL): presence of central or confluent necrosis (33 points),  > 3 mitosis/10 high power field (HPF) (28 points), extension into adipose tissue (20 points) and extra-adrenal location (19 points). PSPGL ≥24 showed similar sensitivity with higher specificity than Pheochromocytoma of the Adrenal gland Scaled Score (PASS) and Grading System for Adrenal Pheochromocytoma and Paraganglioma (GAPP). PSPGL ≤ 20 was associated with risk of metastasis of ∼10% whereas PSPGL ≥ 40 was associated with ∼80%. The presence of metastasis and Ki-67 ≥ 3% were related to lower DSS.\u0000 \u0000 \u0000 \u0000 PSPGL, composed of four easy-to-assess parameters, demonstrated good performance in predicting metastatic potential and good ability in estimate metastasis risk.\u0000","PeriodicalId":510471,"journal":{"name":"Journal of the Endocrine Society","volume":"141 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141002122","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Targetable Receptor Tyrosine Kinase in Metastatic Pheochromocytoma and Paraganglioma: A Future Journey for Anlotinib?","authors":"H. Alkaissi, Karel Pacak","doi":"10.1210/jendso/bvae092","DOIUrl":"https://doi.org/10.1210/jendso/bvae092","url":null,"abstract":"","PeriodicalId":510471,"journal":{"name":"Journal of the Endocrine Society","volume":"94 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141004071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Differential effect of two hormonal contraceptives on the relative telomere length of youth with type 1 diabetes","authors":"Andrea Castro, M. Lardone, F. Giraudo, P. López, E. Ortiz, Germán Iñiguez, Fernando Cassorla, E. Codner","doi":"10.1210/jendso/bvae091","DOIUrl":"https://doi.org/10.1210/jendso/bvae091","url":null,"abstract":"\u0000 \u0000 \u0000 Adolescents and young women (AYA) with type 1 diabetes (T1D) may require hormonal contraception for an extended period. However, it is unclear what effect hormonal contraception has on telomere length, a marker of the risk for complications.\u0000 \u0000 \u0000 \u0000 To investigate the relative telomere length (RTL) in AYA with T1D (AYA-T1D) and healthy young women (AYA-C) after 18 months of combined oral contraception use (COC) with ethinyl estradiol/desogestrel, or a subdermal etonogestrel implant (IM).\u0000 \u0000 \u0000 \u0000 A non-randomized prospective study was performed. Thirty-nine AYA-T1D and forty AYA-C chose the COC or the IM. RTL was measured by monochrome multiplex quantitative PCR in DNA from peripheral blood mononuclear cells (PBMC). The impact of contraceptives and clinical variables on RTL was assessed using lineal regression analysis.\u0000 \u0000 \u0000 \u0000 Longer RTL compared to baseline was observed in AYA-T1D (P< 0.05) and AYA-C (P<0 .01) after using the IM. However, the total of AYA and the AYA-C group treated with COC decreased RTL after 18 months of treatment compared to baseline (P< 0.05). The type of contraceptive used was determinant for the changes in RTL compared to baseline in all subjects and controls (P≤ .006). For AYA-T1D, HbA1c levels were not associated with RTL, but the high-sensitivity C-reactive protein was negatively related with the changes in RTL at eighteen months compared to baseline (standardized R2: .230, P=.003).\u0000 \u0000 \u0000 \u0000 IM was associated with longer RTL in AYA-T1D and AYA-C. In contrast, a shortening of telomere length in PMNC was observed after using COC.\u0000","PeriodicalId":510471,"journal":{"name":"Journal of the Endocrine Society","volume":"28 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141005615","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Implication of pappalysins and stanniocalcins in the bioavailability of IGF-I in children with type 1 diabetes mellitus","authors":"María Güemes, Álvaro Martín-Rivada, Beatriz Corredor, Patricia Enes, Sandra Canelles, V. Barrios, Jesús Argente","doi":"10.1210/jendso/bvae081","DOIUrl":"https://doi.org/10.1210/jendso/bvae081","url":null,"abstract":"\u0000 \u0000 \u0000 Anomalies in the growth hormone (GH) - insulin-like growth factor (IGF) axis, are common in children with type 1 diabetes mellitus (T1DM), even in those reaching a normal or near-normal final height. However, concentrations of the IGF bioavailability regulatory factors [pappalysins (PAPP-As) and stanniocalcins (STCs)] have not been reported in children with T1DM.\u0000 \u0000 \u0000 \u0000 To determine serum concentrations of PAPP-As and STCs in children at diagnosis of T1DM and after insulin treatment and the correlation of these factors with other members of the GH/IGF, beta-cell insulin reserve, auxology and nutritional status.\u0000 \u0000 \u0000 \u0000 A single-center prospective observational study including 47 patients (59.5% males), with T1DM onset at median age of 9.2 (IQR: 6.3, 11.9) years was performed. Blood and anthropometric data were collected at diagnosis and after 6 and 12 months of treatment.\u0000 \u0000 \u0000 \u0000 At 6 and 12 months after T1DM diagnosis, there was improvement in the metabolic control [decrease in HbA1c at 12 months -3.66 CI95% (-4.81, -2.05), p=0.001], as well as in body mass index SD and height SD (not statistically significant). STC2 increased (p<0.001) and PAPP-A2 decreased (p<0.001) at 6 and 12 months of treatment onset (p<0.001), which was concurrent with increased total IGF-I as well and IGFBP concentrations, with no significant modification in free IGF-I concentrations. HbA1c correlated with PAPPA-2 (r: +0.41; P<0.05) and STC2 (r: -0.32; P<0.05).\u0000 \u0000 \u0000 \u0000 Implementation of insulin treatment after T1DM onset modifies various components of the circulating IGF system, including PAPP-A2 and STC2. How these modifications modulate linear growth remains unknown.\u0000","PeriodicalId":510471,"journal":{"name":"Journal of the Endocrine Society","volume":"132 32","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140669165","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}