Journal of Clinical Endocrinology & Metabolism最新文献

{"title":"Correction to: \"Cabozantinib Plus Ipilimumab/Nivolumab in Patients With Previously Treated Advanced Differentiated Thyroid Cancer\".","authors":"","doi":"10.1210/clinem/dgaf185","DOIUrl":"10.1210/clinem/dgaf185","url":null,"abstract":"","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e2106"},"PeriodicalIF":5.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12086389/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143732798","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":"Insulin Sensitivity and Skeletal Muscle Mitochondrial Respiration in Black and White Women With Obesity.","authors":"Justine M Mucinski, Giovanna Distefano, John Dubé, Frederico G S Toledo, Paul M Coen, Bret H Goodpaster, James P DeLany","doi":"10.1210/clinem/dgae600","DOIUrl":"10.1210/clinem/dgae600","url":null,"abstract":"<p><strong>Objectives: </strong>Non-Hispanic Black women (BW) have a greater risk of type 2 diabetes (T2D) and insulin resistance (IR) compared to non-Hispanic White women (WW). The mechanisms leading to these differences are not understood, and it is unclear whether synergistic effects of race and obesity impact disease risk. To understand the interaction of race and weight, hepatic and peripheral IR were compared in WW and BW with and without obesity.</p><p><strong>Methods: </strong>Hepatic and peripheral IR were measured by a labeled, hyperinsulinemic-euglycemic clamp in BW (n = 32) and WW (n = 32) with and without obesity. Measurements of body composition, cardiorespiratory fitness, and skeletal muscle (SM) respiration were completed. Data were analyzed by mixed model ANOVA.</p><p><strong>Results: </strong>Subjects with obesity had greater hepatic and peripheral IR and lower SM respiration (P < .001). Despite 14% greater insulin (P = .066), BW tended to have lower peripheral glucose disposal (Rd; P = .062), which was driven by women without obesity (P = .002). BW had significantly lower glucose production (P = .005), hepatic IR (P = .024), and maximal coupled and uncoupled respiration (P < .001) than WW. Maximal coupled and uncoupled SM mitochondrial respiration was strongly correlated with peripheral and hepatic IR (P < .01).</p><p><strong>Conclusion: </strong>While BW without obesity had lower Rd than WW, race and obesity did not synergistically impact peripheral IR. Paradoxically, WW with obesity had greater hepatic IR compared to BW. Relationships between SM respiration and IR persisted across a range of body weights. These data provide support for therapies in BW, like exercise, that improve SM mitochondrial respiration to reduce IR and T2D risk.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e2026-e2036"},"PeriodicalIF":5.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12086411/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142114342","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":"Effects of Atrial Fibrillation Screening According to Thyroid Function: Post Hoc Analysis of the Randomized LOOP Study.","authors":"Daniel Camillo Spona, Diana My Frodi, Lucas Yixi Xing, Emilie Katrine Kongebro, Ketil Jørgen Haugan, Claus Graff, Søren Højberg, Derk Krieger, Axel Brandes, Lars Køber, Morten S Olesen, Andreas Andersen, Sofie Hædersdal, Ruth Frikke-Schmidt, Jesper Hastrup Svendsen, Søren Zöga Diederichsen","doi":"10.1210/clinem/dgae610","DOIUrl":"10.1210/clinem/dgae610","url":null,"abstract":"<p><strong>Context: </strong>Subclinical thyroid dysfunction is a marker for atrial fibrillation (AF) and stroke risk.</p><p><strong>Objective: </strong>This study explored the effects of AF screening according to thyroid-stimulating hormone (TSH) levels.</p><p><strong>Methods: </strong>An AF screening trial (the LOOP study) was analyzed post hoc according to baseline TSH. The primary outcome was stroke or systemic embolism (SE). Secondary outcomes included major bleeding, all-cause death, and the combination of stroke, SE, and cardiovascular death.</p><p><strong>Results: </strong>TSH measurements were available in 6003 of 6004 trial participants, 1500 randomized to implantable loop recorder (ILR) screening for AF and anticoagulation upon detection vs 4503 to usual care; mean age was 74.7 ± 4.1 years and 2836 (47%) were women. AF detection was approximately triple for ILR vs usual care across TSH tertiles (adjusted P interaction = 0.44). In the first tertile, screening was associated with decreased risk of the primary outcome (hazard ratio [HR] 0.52, 95% CI 0.30-0.90; P = .02) and stroke, SE, or cardiovascular death (HR 0.54, 95% CI 0.34-0.84; P = .006) compared with usual care, while no effect was observed among participants with higher TSH (adjusted P interaction .03 and .01, respectively). There was no effect on other outcomes. Analyses of continuous TSH or excluding those with abnormal TSH or thyroid medication showed similar results.</p><p><strong>Conclusion: </strong>AF screening and subsequent treatment was associated with decreased stroke risk among participants with low TSH, though the yield of screening was similar across TSH levels. TSH may be useful as a marker to indicate benefit from AF screening vs overdiagnosis and overtreatment. These findings should be considered exploratory and warrant further study.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e1975-e1984"},"PeriodicalIF":5.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134315","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":"Predictors of Cardiovascular Disease in Individuals With Dysbetalipoproteinemia: A Prospective Study in the UK Biobank.","authors":"Martine Paquette, Mark Trinder, Simon-Pierre Guay, Liam R Brunham, Alexis Baass","doi":"10.1210/clinem/dgae618","DOIUrl":"10.1210/clinem/dgae618","url":null,"abstract":"<p><strong>Background: </strong>Dysbetalipoproteinemia (DBL) is a disorder of remnant cholesterol metabolism associated with a severe risk of atherosclerotic cardiovascular disease (ASCVD).</p><p><strong>Objective: </strong>The objective of this study was to investigate the univariate and multivariate predictors of ASCVD in individuals with DBL.</p><p><strong>Methods: </strong>Data from 2699 individuals with ɛ2/ɛ2 genotypes from the UK Biobank were included in this study. DBL was defined as having an ɛ2ɛ2 genotype with evidence of dyslipidemia, defined as total cholesterol ≥ 200 mg/dL (5.2 mmol/L) and triglyceride ≥ 175 mg/dL (2.0 mmol/L) or lipid-lowering therapy use (n = 964).</p><p><strong>Results: </strong>Age, hypertension, waist circumference, and a polygenic risk score for coronary artery disease (PRSCAD) were independent predictors of ASCVD among individuals with DBL. Cumulative ASCVD-free survival was lower in the ɛ2/ɛ2 DBL group (84%) compared to the ɛ2/ɛ2 non-DBL group (94%) (P < .0001) and for DBL individuals with a PRSCAD ≥ median (79%) compared to those with a PRSCAD < median (89%) (P = .001).</p><p><strong>Conclusion: </strong>We show in a large prospective cohort that a PRSCAD predicts the ASCVD risk among individuals with DBL. The findings of the present study highlight the need for better risk stratification in ɛ2/ɛ2 carriers to identify high-risk individuals who would need aggressive cardiovascular management despite their low apolipoprotein B value.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e1959-e1965"},"PeriodicalIF":5.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142146735","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":"Serum Phosphate in the General Population: A Need for Sex-Specific Reference Intervals.","authors":"Ariadne Bosman, Natalia Campos-Obando, Christian Ramakers, M Carola Zillikens","doi":"10.1210/clinem/dgae633","DOIUrl":"10.1210/clinem/dgae633","url":null,"abstract":"<p><strong>Context: </strong>Phosphate is important for several metabolic functions and essential for bone mineralization. Sex differences exist in the relation between serum phosphate and certain diseases. The reference interval for phosphate is age-adjusted in infants, but most institutions use the same intervals for adult men and women despite increasing evidence for age and sex differences.</p><p><strong>Objective: </strong>We aimed to study these differences in 2 large population-based cohorts to evaluate whether current reference intervals are adequate.</p><p><strong>Methods: </strong>A total of 8837 participants from 3 cohorts of the Rotterdam Study (RS) and 422 443 participants from the UK Biobank (UKBB), aged 40 and older and without chronic kidney disease, were analyzed for sex differences in serum phosphate using standard reference values (0.8-1.45 mmol or 2.5-4.5 mg/dL). Analyses were further stratified in women by menopausal status.</p><p><strong>Results: </strong>Women had higher serum phosphate concentrations and a higher population range compared to men in all cohorts. Hypophosphatemia was more prevalent in men and hyperphosphatemia was more prevalent in women. Sex differences were present in all age categories. Perimenopausal women had higher serum phosphate concentrations than men of the same age, but lower than postmenopausal women of the same age.</p><p><strong>Conclusion: </strong>This study in 2 population-based cohorts showed that women have higher serum phosphate concentrations than men and that women show a marked increase in serum phosphate during menopause. Moreover, the population range for serum phosphate was higher in women than in men. These findings indicate a need for sex-specific reference intervals for serum phosphate in adults older than 45 years.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"e1885-e1891"},"PeriodicalIF":5.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12086386/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142299921","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":"Discrimination and Precision of Continuous Glucose Monitoring in Staging Children With Presymptomatic Type 1 Diabetes.","authors":"Elisabeth Huber, Tarini Singh, Melanie Bunk, Mayscha Hebel, Kerstin Kick, Andreas Weiß, Mirjam Kohls, Melanie Köger, Maja Hergl, Jose Maria Zapardiel Gonzalo, Ezio Bonifacio, Anette-G Ziegler","doi":"10.1210/clinem/dgae691","DOIUrl":"10.1210/clinem/dgae691","url":null,"abstract":"<p><strong>Context: </strong>Staging and monitoring of presymptomatic type 1 diabetes includes the assessment for dysglycemia.</p><p><strong>Objective: </strong>To assess the ability of continuous glucose monitoring (CGM) to differentiate between islet autoantibody-negative controls and early-stage type 1 diabetes and explore whether CGM classifiers predict progression to clinical diabetes.</p><p><strong>Research design and methods: </strong>Children and adolescents participating in public health screening for islet autoantibodies in Bavaria, Germany, were invited to undergo CGM with Dexcom G6. In total, 118 participated and valid data was obtained from 97 [57 female; median age 10 (range 3-17) years], including 46 with stage 1, 18 with stage 2, and 33 with no islet autoantibodies.</p><p><strong>Results: </strong>Mean glucose during CGM in islet autoantibody-negative controls was high (median, 115.3 mg/dL) and varied substantially (interquartile range, 106.8-124.4). Eleven (33%) of the controls had more than 10% of glucose values above 140 mg/dL (TA140). Using thresholds corresponding to 100% specificity in controls, differences between controls and stage 1 and stage 2 were obtained for glucose SD, TA140, TA160, and TA180. Elevations in any 2 of these parameters identified 12 (67%) with stage 2 and 9 (82%) of 11 participants who developed clinical diabetes within 1 year. However, there was marked variation within groups for all parameters and poor consistency observed in a second CGM performed in 18 participants.</p><p><strong>Conclusion: </strong>This study demonstrated the potential of integrating CGM into staging and monitoring of early-stage type 1 diabetes. However, substantial improvement in the precision of CGM is required for its application in routine monitoring practices.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"1624-1632"},"PeriodicalIF":5.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12086423/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142479550","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":"Shared Genetic Architecture and Causal Relationship Between Serum 25-Hydroxyvitamin D and Bone Mineral Density.","authors":"Linna Sha, Li Zhang, Xunying Zhao, Rong Xiang, Xueyao Wu, Jiangbo Zhu, Jiaojiao Hou, Qin Deng, Chenjiarui Qin, Changfeng Xiao, Yang Qu, Tao Han, Jinyu Zhou, Sirui Zheng, Ting Yu, Xin Song, Bin Yang, Mengyu Fan, Xia Jiang","doi":"10.1210/clinem/dgae738","DOIUrl":"10.1210/clinem/dgae738","url":null,"abstract":"<p><strong>Context: </strong>Despite the well-established regulatory role of vitamin D in maintaining bone health, little is known about the shared genetics and causality of the association between serum 25-hydroxyvitamin D (25OHD) and bone mineral density (BMD).</p><p><strong>Objective: </strong>We aimed to investigate the shared genetic architecture and causal relationship between serum 25OHD and BMD, providing insights into their underlying biological mechanisms.</p><p><strong>Methods: </strong>Leveraging individual-level data from the UK Biobank (UKB) cohort and summary-level data from the genome-wide association studies (GWASs) conducted on European individuals for serum 25OHD (N = 417 580) and estimated heel BMD (eBMD, N = 426 824), we systematically elucidated the shared genetic architecture underlying serum 25OHD and eBMD through a comprehensive genome-wide cross-trait design.</p><p><strong>Results: </strong>Despite a lack of global genetic correlation (rg=-0.001; P = .95), a statistically significant local signal was discovered at 5p11-5q11.9. Two-sample mendelian randomization (MR) indicated no causal association in the overall population (β=.003, 95% CI, -0.04 to 0.03; P = .93), while positive causal effects were observed in males (β=.005, 95% CI, 0.00 to 0.01; P = .03) and older individuals (β=.009, 95% CI, 0.00∼0.02; P = .01) according to one-sample MR. A total of 49 pleiotropic single-nucleotide variations (SNVs), with 4 novel SNVs (rs1077151, rs79873740, rs12150353, and rs4760401), were identified, and a total of 95 gene-tissue pairs exhibited overlap, predominantly enriched in the nervous, digestive, exocrine/endocrine, and cardiovascular systems. Protein-protein interaction analysis identified RPS9 and RPL7A as hub genes.</p><p><strong>Conclusion: </strong>This study illuminates the potential health benefits of enhancing serum 25OHD levels to mitigate the risk of osteoporosis among men and individuals older than 65 years. It also unveils a shared genetic basis between serum 25OHD and eBMD, offering valuable insights into the intricate biological pathways.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"1605-1616"},"PeriodicalIF":5.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12086425/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142479570","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":"Investigation of Fibrillar Aggregates Formed by Pathogenic Pre-pro-vasopressin Mutants that Cause ADNDI.","authors":"Refika Dilara Vaizoglu, Beril Erdem, Mehmet Gul, Ceren Acar, Huseyin Ozgur Ozdemirel, Emel Saglar Ozer, Hatice Mergen","doi":"10.1210/clinem/dgae749","DOIUrl":"10.1210/clinem/dgae749","url":null,"abstract":"<p><strong>Context: </strong>Aggregations of unfolded or misfolded proteins, both inside and outside cells, are implicated in numerous diseases, collectively known as amyloidosis. Particularly, autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) is a rare disease caused by mutations in the AVP-NPII gene, leading to the inability to secrete arginine vasopressin. These misfolded proteins accumulate within the endoplasmic reticulum (ER), causing cellular dysfunction.</p><p><strong>Objective: </strong>This study aimed to investigate the formation of amyloid-like aggregates within the cell resulting from misfolded mutant precursor proteins, which induce disulfide-linked oligomers due to the G45C, 207_209delGGC, G88V, C98X, C104F, E108D-1, E108D-2 and R122H mutations identified by our group in the AVP-NPII gene of ADNDI patients.</p><p><strong>Methods: </strong>Deglycosylation studies were performed to analyze the glycosylation patterns of mutant protein precursors. The involvement of these precursors in the ER-related degradation pathway was studied by conducting protease inhibition experiments. Disulfide-linked oligomer analysis determined the oligomerization status of the mutant precursors. Immunofluorescence and electron microscopy studies provided evidence of aggregate structures in the ER lumen. In vitro studies involved bacterial expression and fibril formation in Escherichia coli (E. coli).</p><p><strong>Results: </strong>Our findings demonstrated that the N-glycan structure of mutant precursors remains intact within the ER. Protease inhibition experiments indicated the involvement of these precursors in the ER-related degradation pathway. Disulfide-linked oligomer analysis revealed homo-oligomer structures in mutations. Immunofluorescence and electron microscopy studies confirmed the presence of aggregate structures in the ER lumen. In vitro studies showed that mutant precursors could form fibril structures in E. coli.</p><p><strong>Conclusion: </strong>Our study may support the idea that ADNDI belongs to the group of neurodegenerative diseases due to the formation of fibrillar amyloid aggregates in the cell.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"1577-1586"},"PeriodicalIF":5.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12086421/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512186","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":"Safety, Growth, and Development After Dapagliflozin or Saxagliptin in Children With Type 2 Diabetes (T2NOW Follow-Up).","authors":"Naim Shehadeh, Pietro Galassetti, Nayyar Iqbal, Cecilia Karlsson, John Monyak, Jennifer Ostridge, Marie Bolin, Timothy Barrett","doi":"10.1210/clinem/dgae723","DOIUrl":"10.1210/clinem/dgae723","url":null,"abstract":"<p><strong>Context: </strong>The T2NOW trial of dapagliflozin or saxagliptin vs placebo in pediatric patients with type 2 diabetes (T2D) demonstrated promising efficacy data for dapagliflozin and did not raise any safety concerns over 52 weeks.</p><p><strong>Objective: </strong>This work aimed to assess long-term effects of prior dapagliflozin/saxagliptin administration on safety, growth, and development.</p><p><strong>Methods: </strong>A multicenter, randomized, double-blind phase 3 trial (T2NOW) was conducted among 210 children with T2D aged 10 to 17 years, followed for up to 1 year after treatment. Participants were previously treated with once-daily dapagliflozin (5, 10 mg), saxagliptin (2.5, 5 mg), or placebo as an add-on to diet, exercise, metformin, and/or insulin for 52 weeks, plus a 52-week nontreatment follow-up period. Main outcome measures included change in height, weight, body mass index (BMI), Tanner staging, growth and maturation markers, bone biomarkers, and adverse events (AEs) from baseline to week 104.</p><p><strong>Results: </strong>As expected in a pediatric population, mean height and weight slightly increased from baseline to week 104. BMI remained generally stable; changes were similar across treatment groups. Sexual maturation progressed normally to week 104, with similar shifts between Tanner stages and changes in growth and maturation markers and bone biomarkers across groups. The proportion of patients reporting 1 or more AEs during the nontreatment follow-up period was similar across groups previously treated with dapagliflozin (18.5%) or saxagliptin (15.9%) compared to placebo (21.1%). No deaths occurred.</p><p><strong>Conclusion: </strong>Prior treatment with dapagliflozin or saxagliptin for 52 weeks did not raise any safety concerns relating to height, weight, BMI, Tanner staging, growth and maturation markers, bone biomarkers, or AEs for up to 52 weeks following treatment discontinuation in pediatric patients with T2D.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"1587-1595"},"PeriodicalIF":5.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12086385/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142512198","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":"Polycystic Ovary Syndrome Underdiagnosis Patterns by Individual-level and Spatial Social Vulnerability Measures.","authors":"Emily L Silva, Kevin J Lane, Jay Jojo Cheng, Zachary Popp, Breanna D van Loenen, Brent Coull, Jaime E Hart, Tamarra James-Todd, Shruthi Mahalingaiah","doi":"10.1210/clinem/dgae705","DOIUrl":"10.1210/clinem/dgae705","url":null,"abstract":"<p><strong>Objective: </strong>To use electronic health records (EHR) data at Boston Medical Center (BMC) to identify individual-level and spatial predictors of missed diagnosis, among those who meet diagnostic criteria for polycystic ovary syndrome (PCOS).</p><p><strong>Methods: </strong>The BMC Clinical Data Warehouse was used to source patients who presented between October 1, 2003, and September 30, 2015, for any of the following: androgen blood tests, hirsutism, evaluation of menstrual regularity, pelvic ultrasound for any reason, or PCOS. Algorithm PCOS cases were identified as those with International Classification of Diseases (ICD) codes for irregular menstruation and either an ICD code for hirsutism, elevated testosterone lab, or polycystic ovarian morphology as identified using natural language processing on pelvic ultrasounds. Logistic regression models were used to estimate odds ratios (ORs) of missed PCOS diagnosis by age, race/ethnicity, education, primary language, body mass index, insurance type, and social vulnerability index (SVI) score.</p><p><strong>Results: </strong>In the 2003-2015 BMC-EHR PCOS at-risk cohort (n = 23 786), there were 1199 physician-diagnosed PCOS cases and 730 algorithm PCOS cases. In logistic regression models controlling for age, year, education, and SVI scores, Black/African American patients were more likely to have missed a PCOS diagnosis (OR = 1.69 [95% CI, 1.28, 2.24]) compared to non-Hispanic White patients, and relying on Medicaid or charity for insurance was associated with an increased odds of missed diagnosis when compared to private insurance (OR = 1.90 [95% CI, 1.47, 2.46], OR = 1.90 [95% CI, 1.41, 2.56], respectively). Higher SVI scores were associated with increased odds of missed diagnosis in univariate models.</p><p><strong>Conclusion: </strong>We observed individual-level and spatial disparities within the PCOS diagnosis. Further research should explore drivers of disparities for earlier intervention.</p>","PeriodicalId":50238,"journal":{"name":"Journal of Clinical Endocrinology & Metabolism","volume":" ","pages":"1657-1666"},"PeriodicalIF":5.0,"publicationDate":"2025-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12086426/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142479568","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}