Journal of the Endocrine Society最新文献

{"title":"Comprehensive genetic rescreening improves diagnostic yield in congenital hyperinsulinism.","authors":"Jonna M E Männistö, Jayne A L Houghton, Jasmin J Bennett, Päivi Keskinen, Tiinamaija Tuomi, Heli Ruuskanen, Liisa A Viikari, Antti Jokiniitty, Jyrki Lähde, Joose Raivo, Timo Otonkoski, Hanna Huopio, Sarah E Flanagan","doi":"10.1210/jendso/bvag047","DOIUrl":"https://doi.org/10.1210/jendso/bvag047","url":null,"abstract":"<p><strong>Context: </strong>Recent genetic discoveries in congenital hyperinsulinism (HI) and advances in sequencing technology suggest that the diagnostic yield may be improved by rescreening in people with genetically unsolved HI.</p><p><strong>Objective: </strong>To evaluate this hypothesis in a nationwide cohort of individuals with a historical diagnosis of HI of unknown genetic cause.</p><p><strong>Methods: </strong>Twenty-seven probands, representing 77% of the genetically unsolved HI cases in Finland, underwent rescreening which targeted the coding regions of 18 known HI genes, and 5 relevant non-coding regions. The median age of the cohort was 21 years (range, 4-44 years). Participants had previously undergone a median of 3 genetic tests (range, 1-4), all of which yielded negative (<i>n</i> = 17) or inconclusive (<i>n</i> = 10) results.</p><p><strong>Results: </strong>Genetic rescreening was informative in 22% (6 of 27) of cases. Definitive genetic diagnoses were established in 4 (15%) participants. These included the detection of non-coding variants in the <i>ABCC8</i>, <i>HK1</i>, and <i>SLC16A1</i> genes, and a <i>GCK</i> mosaic variant (8% allele fraction). In 2 (7%) cases, rescreening revised genetic results but did not provide a definitive genetic diagnosis.</p><p><strong>Conclusion: </strong>In this Finnish cohort, rescreening with a comprehensive gene panel provided new or revised diagnoses in 22% of cases, informing on medical management and recurrence risk. These findings emphasize the importance of regularly updating genetic testing strategies and highlight the clinical value of re-evaluating the need for rescreening in genetically unexplained HI cases even following clinical remission.</p>","PeriodicalId":17334,"journal":{"name":"Journal of the Endocrine Society","volume":"10 4","pages":"bvag047"},"PeriodicalIF":3.1,"publicationDate":"2026-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13035452/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147592822","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prenatal and postnatal atrazine-induced endocrine and ovarian chemical biotransformation protein disruption in offspring.","authors":"Omotoyosi Adeyanju, Maria Estefanía González-Alvarez, Collins Antwi-Boasiako, Mary J Laws, Amy T Desaulniers, Aileen F Keating","doi":"10.1210/jendso/bvag027","DOIUrl":"https://doi.org/10.1210/jendso/bvag027","url":null,"abstract":"<p><p>Atrazine (ATZ) is an endocrine-disrupting chemical, and ATZ exposure during perinatal development is linked to reproductive dysfunction and behavioral abnormalities in adulthood. Gestational ATZ exposure can adversely affect birth weight, fetal growth, and onset of puberty. To investigate ovarian effects of ATZ exposure on female offspring, timed pregnant nulliparous gilts were provided ad libitum access to water that contained vehicle control (CT; 0.002% (v/v) ethanol; n = 3) or an environmentally relevant ATZ dose (20 µg/L; n = 4); thus piglets were exposed from gestation day 28 through farrowing and lactation (∼99 days). Umbilical cord blood serum was assayed for hormone concentrations, ovarian follicles were classified and counted, and abundance of proteins involved in folliculogenesis, steroidogenesis, chemical biotransformation, DNA damage, and cell viability in piglet ovaries were quantified by Western blotting. Exposure to ATZ decreased (<i>P</i> < .05) body weight at postnatal day 10, ovarian abundance of cytochrome P450 (CYP) isoform 2E1 (CYP2E1), ATP-binding cassette subfamily B member 1 (ABCB1), CYP11A1, peroxisome proliferator-activated receptor α, CYP1A1, CYP1B1, pAKT, RAD51, and serum progesterone. There was a tendency (.05 < <i>P</i> < .10) for reduced birth weight, serum 17β-estradiol, atretic follicle number, and ovarian GSTP1 and for increased PARP1 abundance after ATZ exposure. Overall, this study suggests that ATZ exposure during gestation and lactation may impair ovarian function.</p>","PeriodicalId":17334,"journal":{"name":"Journal of the Endocrine Society","volume":"10 3","pages":"bvag027"},"PeriodicalIF":3.1,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12946850/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147325683","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Parathyroid histology in normocalcemic and hypercalcemic primary hyperparathyroidism with hypercalciuric renal stones.","authors":"Bénédicte Blanchard, Safia Hadjadj, Ellie Tang, Jennifer Kervadec, Souhila Ouchelouche, Perrine Frere, Olivier Traxer, Isabelle Wagner, Diane Evrard, Pierre Riebler, David Buob, Emmanuel Letavernier, Jean-Philippe Haymann, Caroline Halimi","doi":"10.1210/jendso/bvag014","DOIUrl":"10.1210/jendso/bvag014","url":null,"abstract":"<p><strong>Context: </strong>Hypercalcemic (HPHPT) and normocalcemic primary hyperparathyroidism (NHPT) are distinct conditions with different biological and histological characteristics. Understanding their histological patterns could improve disease characterization.</p><p><strong>Objective: </strong>This study aimed to compare the histological features of NHPT and HPHPT parathyroid glands, but also rims of normal tissue, focusing on the expression of calcium-sensing receptor (CaSR), 1-α hydroxylase (CYP27B1), and vitamin D receptor (VDR).</p><p><strong>Methods: </strong>A retrospective observational study was conducted on histological and immunohistochemical data from parathyroid gland samples. The study included 50 hypercalciuric renal stone patients, of whom 18 had NHPT and 32 had HPHPT. Histological and immunohistochemical analyses were performed to evaluate cell distribution and marker expression. Parathyroid gland weight, cell distribution, and CaSR, CYP27B1, and VDR expression were analyzed and compared between NHPT, HPHPT, and rim biopsies.</p><p><strong>Results: </strong>Parathyroid gland weight and cell distribution were similar in both groups. A rim of normal tissue was more frequent in HPHPT (69% vs 37%; <i>P</i> = .02). In HPHPT, CaSR expression was decreased, while CYP27B1 and VDR expressions were increased in chief cells compared to rim tissue (<i>P</i> = .005, .004, and <.001, respectively). NHPT showed no CaSR or CYP27B1 alterations but a decreased VDR expression in oxyphil cells compared to HPHPT (<i>P</i> = .02).</p><p><strong>Conclusion: </strong>The NHPT hallmark phenotype is normal CaSR, CYP27B1/VDR expression in chief cells, with decreased VDR expression in oxyphil cells. HPHPT chief cell patterns show a marked CaSR decreased expression along with an increased CYP27B1/VDR expression, suggesting an appropriate autocrine/paracrine counterregulation to hypercalcemia/high PTH.</p>","PeriodicalId":17334,"journal":{"name":"Journal of the Endocrine Society","volume":"10 4","pages":"bvag014"},"PeriodicalIF":3.1,"publicationDate":"2026-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13026408/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147574802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effect of vosoritide on spine morphology in children with achondroplasia: 1-year results from a randomized phase 2 study.","authors":"Melita Irving, Ravi Savarirayan, Julie E Hoover-Fong, Anne Dee, Swati Mukherjee, Christine Rivat, Ian Sabir, Klane K White","doi":"10.1210/jendso/bvag008","DOIUrl":"https://doi.org/10.1210/jendso/bvag008","url":null,"abstract":"<p><p>Achondroplasia is a skeletal dysplasia condition caused by reduced endochondral ossification resulting in disproportionate short stature and skeletal deformities, including thoracolumbar kyphosis (TLK) and spinal stenosis. Vosoritide, the first and only approved targeted therapy for achondroplasia, increases bone growth, but its impact on spinal morphology has not been assessed. The randomized, double-blind, placebo-controlled phase 2 CANOPY ACH-2I study (111-206; NCT03583697) evaluated the safety and efficacy of vosoritide in 75 children aged 0 to <5 years. Interpedicular distance (IPD), sagittal width of the lumbar spinal canal, and TLK angle were measured on spinal radiographs taken at baseline and 1 year after vosoritide or placebo treatment. Differences in least-squares mean (LSM) change from baseline (95% CI) between treatment groups were determined with an analysis of covariance model. Measurable improvements in IPD and spinal canal width across L1 to L5 were observed with vosoritide compared with placebo after 1 year. L4 was the most impacted by vosoritide for IPD (LSM difference [95% CI], 0.509 [-0.034 to 1.052] mm, <i>P</i> = .066) and canal width (1.433 [0.547 to 2.320] mm, <i>P</i> = .002). Vosoritide treatment also reduced the natural increase in TLK angle in children 0 to <0.5 years and provided greater improvements in children ≥0.5 to <5 years. After 1 year, fewer children treated with vosoritide (33.3%) vs placebo (59.3%) had pathological (≥20°) TLK angles (<i>P</i> = .037). These preliminary results suggest that early vosoritide treatment may improve spinal morphology and reduce the risk of spinal stenosis in children with achondroplasia. Clinical Trial Information: NCT03583697.</p>","PeriodicalId":17334,"journal":{"name":"Journal of the Endocrine Society","volume":"10 3","pages":"bvag008"},"PeriodicalIF":3.1,"publicationDate":"2026-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12954483/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147355469","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thyroid and cortisol endocrinopathies and survival in cancer patients treated with immune checkpoint inhibitors in UAE.","authors":"Mohamed Alqedra, Bara Fahmayee, Lina Wahba, Jawaher Ansari, Romona D Govender, Saif Al-Shamsi, Raya Almazrouei","doi":"10.1210/jendso/bvag037","DOIUrl":"https://doi.org/10.1210/jendso/bvag037","url":null,"abstract":"<p><strong>Background: </strong>Immune checkpoint inhibitors (ICIs) are associated with immune-related adverse events (irAEs) of which endocrinopathies are among the most frequent. This study aimed to identify thyroid and cortisol-related endocrine-related adverse events (ERAEs) in a cohort of patients treated with ICIs and to examine survival differences between patients who developed endocrinopathies and those who did not.</p><p><strong>Methods: </strong>We conducted a retrospective review of electronic medical records of adult patients who received ICIs between 2018 and 2023. Data were collected specifically on thyroid and cortisol-related ERAEs.</p><p><strong>Results: </strong>Among 616 patients, 59 (9.6%) developed thyroid or cortisol-related ERAEs. The mean time to onset was 22.7 weeks. All thyroid-related events were post-thyroiditis hypothyroidism (<i>n</i> = 55), while all cortisol-related events were due to adrenocorticotropic hormone (ACTH) deficiency (<i>n</i> = 11). The majority of these events occurred in patients treated with anti-PD-1 agents, the most commonly used therapy in this cohort. Patients who developed ERAEs demonstrated improved overall survival during the follow-up period compared to those without endocrine toxicity.</p><p><strong>Conclusion: </strong>In this cohort, systematic monitoring identified thyroid- and cortisol-related ERAEs in 9.6% of patients, consisting exclusively of post-thyroiditis hypothyroidism and ACTH deficiency. The occurrence of these endocrinopathies was associated with a favorable survival trend, underscoring the importance of early recognition and management of endocrine irAEs in patients receiving ICIs.</p>","PeriodicalId":17334,"journal":{"name":"Journal of the Endocrine Society","volume":"10 3","pages":"bvag037"},"PeriodicalIF":3.1,"publicationDate":"2026-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12954486/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147355458","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Insulin receptor expression and its association with hyperinsulinemia in triple negative breast cancer.","authors":"Alexis J Engel, Krupa Samuel, Ilana R Bass, Sylvia Lin, Irini Markella Antoniou, Radhi Yagnik, Elisa Port, Sheldon M Feldman, Neil B Friedman, Susan K Boolbol, Brigid Killelea, Melissa Pilewskie, Lydia Choi, Christopher A Galifi, Teresa L Wood, Nathan G Kase, Derek LeRoith, Nina A Bickell, Emily J Gallagher","doi":"10.1210/jendso/bvag041","DOIUrl":"https://doi.org/10.1210/jendso/bvag041","url":null,"abstract":"<p><strong>Purpose: </strong>Hyperinsulinemia and tumor insulin receptor (IR) expression have been associated with triple negative breast cancer (TNBC) progression in preclinical models. We aimed to evaluate the expression of the IR, IGF-1 receptor (IGF-1R), and associated signaling protein expression in TNBC and their correlations with demographic and metabolic parameters in a population of women with TNBC.</p><p><strong>Methods: </strong>We identified cases of TNBC from our multi-institutional, cross-sectional study of self-identified Black and White women with newly diagnosed breast cancer. Survey, anthropometric, screening behavior, laboratory, and tumor pathology reports were collected, along with formalin-fixed paraffin embedded tumor samples. We performed immunohistochemistry (IHC) analysis and quantified the expression of IR, IGF-1R, phosphorylated Erk1/2 (pErk1/2), and FOXO3a. Clinical information was correlated with IHC scoring.</p><p><strong>Results: </strong>There were 93 TNBC cases. IHC staining and quantification found that 63% of TNBC cases stained positive for IR, 73% for IGF-1R, 67% for FOXO3a, and 43% for pErk1/2. Positive IR staining was more prevalent in Black women than White women (<i>P</i> = .003) and was associated with body mass index and fasting insulin on univariate analysis but was not significantly associated with age. On multivariate analysis, IR expression was associated with fasting insulin but not race. IGF-1R, FOXO3a, and pErk1/2 staining were not associated with any of these factors.</p><p><strong>Conclusion: </strong>Tumor IR expression was associated with higher fasting insulin, and higher fasting insulin was more prevalent among Black women. Further studies are needed to determine the importance of hyperinsulinemia and tumor IR expression in the development of TNBC.</p>","PeriodicalId":17334,"journal":{"name":"Journal of the Endocrine Society","volume":"10 4","pages":"bvag041"},"PeriodicalIF":3.1,"publicationDate":"2026-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13043147/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147609064","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Melengestrol acetate dysregulates HPP, HPT, and HPI axes, affecting the metamorphosis of <i>Xenopus (Silurana) tropicalis</i>.","authors":"Diana C Castañeda-Cortés, Paisley E Thomson, Stacey A Robinson, Valerie S Langlois","doi":"10.1210/jendso/bvag034","DOIUrl":"10.1210/jendso/bvag034","url":null,"abstract":"<p><p>Tadpole development involves several morphological, biochemical, and behavioral transformations regulated by endocrine networks, primarily the hypothalamic-pituitary-thyroid (HPT) and hypothalamic-pituitary-interrenal (HPI) axes. Exposure to melengestrol acetate (MGA), a progesterone-like compound, disrupts these processes, resulting in asynchronous metamorphosis characterized by narrower heads, skin abnormalities, and absence of forelimb emergence (FLE). To examine endocrinal alterations associated with these effects, <i>Xenopus (Silurana) tropicalis</i> tadpoles were exposed to 1.7 μg/L MGA, and combinations of MGA with 24.9 μg/L metyrapone (MTP, a 21-hydroxylase inhibitor that inhibits endogenous corticosterone synthesis) or 43 μg/L mifepristone (RU486, a dual antiprogestogen and antiglucocorticoid). MGA and MGA + MTP treatments induced asynchronous metamorphosis and blocked FLE, while MGA + RU486 attenuated MGA-associated phenotypic effects. Histological analysis revealed that FLE obstruction in MGA and MGA + MTP groups was associated with changes in the epithelium layer surrounding the forelimb. Gene expression analysis showed upregulated <i>prl</i> and downregulated <i>crh</i>, <i>dio2</i>, <i>dio3</i>, and <i>trβ</i> in MGA and MGA + RU486 groups. Circulating corticosterone was significantly reduced by MGA exposure and partially modulated in presence of RU486 co-treatment, without fully restoring control-like endocrine profiles. Together, these findings reveal that MGA disrupts tadpole metamorphosis through coordinated alterations across multiple endocrine axes, including the HPT, HPI, and hypothalamic-pituitary-prolactin (HPP) axes, highlighting the integrative nature of endocrine regulation during amphibian development.</p>","PeriodicalId":17334,"journal":{"name":"Journal of the Endocrine Society","volume":"10 4","pages":"bvag034"},"PeriodicalIF":3.1,"publicationDate":"2026-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13035439/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147592807","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Serum calcium, even within normal range, is associated with blood pressure with a potential influence of calcium intake.","authors":"Chiara Dal Pont, Andrea Sartorio, Alice Giontella, Elena Rosin, Caterina Cangiano, Valentina Zanconato, Sara Marin, Fabio Bertucci, Silvia Grisenti, Federica Stocchetti, Filippo Cattazzo, Sara Bonafini, Ulrika Ericson, Marju Orho-Melander, Olle Melander, Cristiano Fava","doi":"10.1210/jendso/bvag031","DOIUrl":"https://doi.org/10.1210/jendso/bvag031","url":null,"abstract":"<p><strong>Context: </strong>Even within the physiological range, serum calcium (sCa⁺⁺) may influence vascular tone and blood pressure (BP); however, the potential modulatory role of dietary calcium intake remains unclear.</p><p><strong>Objective: </strong>To investigate the association between sCa²⁺ and BP (including central BP) and to assess whether calcium intake affects this relationship.</p><p><strong>Methods: </strong>sCa²⁺ was measured in patients referred for suspected secondary hypertension (VerHyperReg; <i>n</i> = 81) and in 2 population-based cohorts: the Malmö Preventive Project (MPP; <i>n</i> = 18 240) and the UK Biobank (UKB; <i>n</i>≈330 000). Calcium intake was assessed in the Malmö Diet and Cancer Study (MDC; <i>n</i> = 28 098) and in a subsample of MPP participants (MPP×MDC; <i>n</i> = 4095). Multivariable regression models were used to analyze the associations.</p><p><strong>Results: </strong>In MPP and UKB, sCa²⁺ was positively associated with systolic and diastolic BP (even within the normal range). In VerHyperReg, sCa²⁺ was associated with central systolic BP. In the MDC, higher calcium intake was inversely associated with BP. In MPP×MDC, sCa²⁺ was positively associated with systolic BP in the lower 3 quartiles of intake, whereas this association was reversed in the highest quartile.</p><p><strong>Conclusion: </strong>Serum calcium levels within the normal range are positively associated with BP. Increased dietary calcium intake may attenuate this relationship, thus suggesting a modulatory role in BP regulation. Further investigations are warranted.</p>","PeriodicalId":17334,"journal":{"name":"Journal of the Endocrine Society","volume":"10 5","pages":"bvag031"},"PeriodicalIF":3.1,"publicationDate":"2026-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13137991/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147839739","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A polygenic growth score and risk for large for gestational age birth weight.","authors":"Maha Aamir, Maisa Feghali, Lynn Yee, Robert M Silver, Celeste Durnwald, Jon G Steller, David Haas, Uma Reddy, Rafael F Guerrero, Christina M Scifres","doi":"10.1210/jendso/bvag026","DOIUrl":"10.1210/jendso/bvag026","url":null,"abstract":"<p><strong>Context: </strong>Large for gestational age (LGA) birth weight is associated with both short- and long-term health consequences for offspring, and fetal genetics may contribute to risk for LGA birth weight.</p><p><strong>Objectives: </strong>We evaluated the relationship between a polygenic growth score (PGS) and LGA birth weight in relation to maternal characteristics.</p><p><strong>Design: </strong>A previously developed PGS for LGA birth weight was calculated using offspring DNA. We evaluated the relationship between tertiles of the PGS, maternal body mass index, and glycemia assessed by the 50-gram glucose challenge test on the risk for LGA birth weight using 1-way ANOVA and chi-squared tests as well as a regularized linear model.</p><p><strong>Participants: </strong>Nulliparous individuals recruited from 8 clinical sites in the United States.</p><p><strong>Main outcome measures: </strong>LGA birth weight.</p><p><strong>Results: </strong>Infant genotype was available for 3286 individuals. A PGS in the first tertile was associated with a lower risk [adjusted odds ratio (aOR) 0.71, 95% confidence interval (CI) 0.53-0.94], and the third tertile with a higher risk (aOR 1.29, 95% CI 1.02-1.63) for LGA birth weight. The odds of LGA birth weight were highest in those with maternal body mass index (BMI) ≥35 kg/m² and a PGS of either the second tertile (odds ratio 3.54, 95% CI 1.96-6.38) or third tertile (odds ratio 2.69, 95% CI 1.54-4.71).</p><p><strong>Conclusion: </strong>A PGS may assist with identification of those fetuses at increased risk for LGA birth weight, particularly among individuals with a BMI ≥35 kg/m².</p>","PeriodicalId":17334,"journal":{"name":"Journal of the Endocrine Society","volume":"10 3","pages":"bvag026"},"PeriodicalIF":3.1,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12946847/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147326659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"One-hour postload glucose compared to prediabetes criteria as predictive markers of type 2 diabetes in Latin America.","authors":"Juan Carlos Lizarzaburu-Robles, William H Herman, Alonso Garro-Mendiola, Ignacio Mahillo-Fernandez, María Lazo-Porras, Sebastián Mas-Fontao, Amalia Paniagua, Clotilde Vázquez-Matínez, Flor Vento, José Valera, Oscar Lorenzo","doi":"10.1210/jendso/bvag029","DOIUrl":"https://doi.org/10.1210/jendso/bvag029","url":null,"abstract":"<p><strong>Background: </strong>One-hour postload glucose (1h-PG) ≥ 155 mg/dL has been proposed as a marker of prediabetes and risk for type 2 diabetes (T2DM). However, direct comparison with other prediabetic criteria, also in different populations, could improve the prognostic approach for T2DM.</p><p><strong>Objective: </strong>This study compared the prognostic value 1h-PG to traditional prediabetes criteria.</p><p><strong>Methods: </strong>A cohort of 321 Peruvian patients with histories of impaired fasting glucose (IFG) underwent OGTTs and were followed for 7 years for T2DM development.</p><p><strong>Results: </strong>Based on the OGTT, 56.6% of patients had confirmed IFG, 75.4% had normal glucose tolerance (NGT), and 24.6% exhibited IGT. Among NGT individuals, 58.7% had 1h-PG < 155 mg/dL and 41.3% presented 1h-PG ≥ 155 mg/dL. Elevated 1h-PG was associated with IFG, higher body mass index, glycated hemoglobin A1c, and plasma uric acid. Among those tested, 56% had glycated hemoglobin A1c ≥ 5.7%. Concordance between 1h-PG and prediabetes markers was weak. After 4.6 years, 24.3% of patients developed T2DM. Incidence was higher in those with 1h-PG ≥ 155 mg/dL (36.1%) and IGT (32.9%). Only IFG and 1h-PG ≥ 155 mg/dL were significantly associated with T2DM risk, with the latter showing the highest risk (risk ratio = 2.91; 95% CI [1.71-5.19]; <i>P</i> < .001). Patients with 1h-PG ≥ 155 mg/dL who progressed to T2DM had higher baseline uric acid levels than those with IGT.</p><p><strong>Conclusion: </strong>1h-PG ≥ 155 mg/dL is a solid predictor of T2DM, even among individuals with NGT, and may serve as a useful diagnostic criterion for prediabetes in Latin American populations and may be helpful to define a prediabetic phenotype.</p>","PeriodicalId":17334,"journal":{"name":"Journal of the Endocrine Society","volume":"10 3","pages":"bvag029"},"PeriodicalIF":3.1,"publicationDate":"2026-02-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12954485/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147355493","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}