Endocrine Practice最新文献

{"title":"Growth Hormone Assay-Adjusted Standardization Reveals Distinct Clinical Phenotypes in Acromegaly","authors":"Betina Biagetti MD ,&nbsp;Pedro Marques MD ,&nbsp;Roser Ferrer MD ,&nbsp;Luís Miguel Cardoso MD ,&nbsp;Eva Venegas Moreno MD ,&nbsp;Carmen Fajardo-Montañana MD ,&nbsp;Laura Gonzalez-Fernandez MD ,&nbsp;Marta María Pérez Pena MD ,&nbsp;Rogelio García-Centeno MD ,&nbsp;Claudia Lozano-Aida MD ,&nbsp;Iría Novoa-Testa MD ,&nbsp;Eider Pascual-Corrales MD ,&nbsp;Raúl Sánchón MD ,&nbsp;Fernando Guerrero-Pérez MD ,&nbsp;Rosario Oliva Rodríguez MD ,&nbsp;Beatriz Rodríguez Jiménez MD ,&nbsp;María Dolores Ollero García MD ,&nbsp;Ana Irigaray Echarri MD ,&nbsp;Andreu Simó-Servat MD ,&nbsp;María Dolores Moure Rodríguez MD ,&nbsp;Marta Araujo-Castro MD","doi":"10.1016/j.eprac.2025.10.006","DOIUrl":"10.1016/j.eprac.2025.10.006","url":null,"abstract":"<div><h3>Objective</h3><div>To identify distinct clinical phenotypes in acromegaly based on growth hormone (GH) assay standardization and unsupervised machine learning.</div></div><div><h3>Methods</h3><div>This was a multicenter cross-sectional analysis of 416 patients diagnosed with acromegaly from 2010 onward. Patients were stratified according to baseline serum GH levels standardized to the assay-specific upper limit of normal (GHxULN) using a binary classification (GH-B: &lt;1.0×ULN vs ≥1.0×ULN) and a four-tier classification (GH-4: &lt;0.25, 0.25-0.99, 1.0-9.9, ≥10×ULN). Unsupervised cluster analysis included age, GHxULN, insulin-like growth factor 1 (IGF-1)xULN, tumor diameter, and T2-weighted signal intensity.</div></div><div><h3>Results</h3><div>Overall, 36% of patients had GH levels within the normal reference range for their assay (GH-B &lt;1.0×ULN). Microadenomas (23.1%) were more frequent in older patients and associated with lower GH/IGF-1 levels. Across GH-4 categories, significant gradients were observed for age (z = −5.34, <em>P</em> &lt; .001), tumor size (z = 8.01, <em>P</em> &lt; .001), IGF-1 (z = 9.00, <em>P</em> &lt; .001), and symptom duration (z = 4.34, <em>P</em> &lt; .001). Higher GH categories were associated with greater odds of arthropathy (odds ratio 3.5, <em>P</em> = .015 for 1.0-9.9×ULN and odds ratio 6.58, <em>P</em> = .002 for ≥10×ULN). Cluster analysis revealed 3 phenotypes: cluster 1 (49.0%) [older age, lower GH/IGF-1, intermediate tumor size]; cluster 2 (44.4%) [intermediate age, moderate biochemical activity, smaller tumors]; cluster 3 (6.6%) [younger age, markedly elevated GH/IGF-1, large aggressive tumors].</div></div><div><h3>Conclusion</h3><div>GH standardization to assay-specific ULN reveals clinically meaningful phenotypes in acromegaly that correlate with age, tumor characteristics, and disease severity (particularly arthropathy). GHxULN complements IGF-1 by capturing tumor secretory activity, and this stratification approach may support more individualized clinical decision-making.</div></div>","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":"32 2","pages":"Pages 236-245"},"PeriodicalIF":4.6,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145307314","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Impairment of Bone Mineral Density in Pituitary Thyrotropin-Secreting Adenomas: A Retrospective, Controlled Study","authors":"Jie Liu MD ,&nbsp;Yanying Li MD ,&nbsp;Jifang Liu MD ,&nbsp;Zhang Ye MD ,&nbsp;He Liu MD ,&nbsp;Xiaofeng Chai MD ,&nbsp;Huijuan Zhu MD ,&nbsp;Bing Xing MD ,&nbsp;Wei Lian MD ,&nbsp;Xiaolan Lian MD ,&nbsp;Naishi Li MD ,&nbsp;Lin Lu MD ,&nbsp;Mei Zhang MD ,&nbsp;Lian Duan MD, PhD ,&nbsp;Yong Yao MD ,&nbsp;Kan Deng MD","doi":"10.1016/j.eprac.2025.09.202","DOIUrl":"10.1016/j.eprac.2025.09.202","url":null,"abstract":"<div><h3>Objective</h3><div>Hyperthyroidism can harm bone health, though it is seldom reported in thyroid-stimulating hormone/thyrotropin (TSH)-secreting adenomas (TSHomas). This study assessed bone mineral density (BMD) and bone turnover markers (BTMs) in TSHoma patients versus euthyroid controls and evaluated the impact of surgical treatment on bone metabolism.</div></div><div><h3>Methods</h3><div>We retrospectively reviewed 85 TSHoma patients who underwent BMD tests. Of these, 71 had baseline BMD data and were matched with 71 euthyroid healthy controls by age, sex, and body mass index. BMD and BTMs were measured.</div></div><div><h3>Results</h3><div>TSHoma patients demonstrated significantly reduced BMD compared to matched euthyroid controls across all skeletal sites, with reductions of 12.4% at the lumbar spine (1.06 ± 0.19 vs 1.21 ± 0.14 g/cm², <em>P</em> &lt; .001), 8.5% at the femoral neck (0.86 ± 0.14 vs 0.94 ± 0.11 g/cm², <em>P</em> &lt; .001), and 14.8% at the total hip (0.86 ± 0.13 vs 1.01 ± 0.12 g/cm², <em>P</em> &lt; .001). Baseline BTMs revealed elevated osteoblastic (procollagen type 1 N-terminal propeptide 108 [60, 202] ng/mL) and osteoclastic markers (β-CTX 0.84 [0.62, 1.30] ng/mL). Besides, free triiodothyronine showed strong positive correlations with BTMs: alkaline phosphatase (<em>r</em> = 0.45, <em>P</em> = .005), β-CTX (<em>r</em> = 0.61, <em>P</em> &lt; .001), and procollagen type 1 N-terminal propeptide (<em>r</em> = 0.73, <em>P</em> = .004). Following tumor resection, BTMs decreased significantly: alkaline phosphatase (91 [74.25, 119.5] to 71 [68, 94] U/L, <em>P</em> = .003) and β-CTX (0.75 [0.57, 0.94] to 0.22 [0.21, 0.45] ng/mL, <em>P</em> = .008). Postoperative BMD revealed stabilization with nonsignificant improvements at all measured skeletal sites.</div></div><div><h3>Conclusion</h3><div>TSHoma patients exhibit significant BMD deficits compared to euthyroid controls. Surgery effectively reduces BTMs while stabilizing BMD, preventing further deterioration rather than restoring bone density.</div></div>","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":"32 2","pages":"Pages 172-178"},"PeriodicalIF":4.6,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212113","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effectiveness of Bisphosphonates and Denosumab on Risk of Vertebral Fractures in Prostate Cancer Patients Under Androgen Deprivation Therapies: A Real-World Prospective Study","authors":"Alberto Piasentier MD ,&nbsp;Maria Francesca Birtolo MD ,&nbsp;Bianca Turci MD ,&nbsp;Walter Vena MD ,&nbsp;Alessandro Fanti MD ,&nbsp;Emanuela Morenghi MD ,&nbsp;Lucrezia MS. Gentile MD ,&nbsp;Luca Balzarini MD ,&nbsp;Antonio C. Bossi MD ,&nbsp;Alfredo Berruti MD ,&nbsp;Giovanni Lughezzani MD ,&nbsp;Ciro Franzese MD ,&nbsp;Fabio De Vincenzo MD ,&nbsp;Marta Scorsetti MD ,&nbsp;Paolo A. Zucali MD ,&nbsp;Andrea G. Lania MD, PhD ,&nbsp;Gherardo Mazziotti MD, PhD","doi":"10.1016/j.eprac.2025.09.201","DOIUrl":"10.1016/j.eprac.2025.09.201","url":null,"abstract":"<div><h3>Objective</h3><div>This prospective study investigated the real-world effectiveness of bisphosphonates and denosumab in reducing vertebral fracture (VF) risk induced by androgen deprivation therapies (ADTs).</div></div><div><h3>Methods</h3><div>Two hundred twenty-six consecutive men (mean age 74.8 ± 6.9 years) undergoing ADT were evaluated for morphometric VFs at baseline and after 26.1 ± 10.7 months of follow-up (range 18-64). Following enrollment, 153 patients commenced bisphosphonates (98 cases) or denosumab (55 cases), while 73 patients (32.3%) received only vitamin D and calcium supplementation. As an additional control group, we enrolled 62 consecutive men (mean age 74.9 ± 7.2 years) under chronic ADTs who had been neither evaluated nor treated for skeletal fragility before study entry.</div></div><div><h3>Results</h3><div>Incident VFs were found in 16 of 226 (7.1%) patients enrolled in the prospective study and in 18 of 62 (29.0%) control subjects (<em>P</em> &lt; .001). The risk of VFs was significantly lower in patients treated with bone-active drugs as compared to those treated with vitamin D (hazard ratio 0.26, 95% CI 0.09-0.73; <em>P</em> = .01), without significant difference between denosumab and bisphosphonate treatment (<em>P</em> = .423), although denosumab-treated patients had lower bone mineral density, higher serum C-terminal telopeptide of type I collagen values, and more prevalent VFs. Noteworthy, incident VFs were significantly lower in patients receiving vitamin D with calcium as compared to those subjects under chronic ADT who had never been evaluated and treated for skeletal fragility prior to the study (12.3% vs 29.0%; <em>P</em> = .016).</div></div><div><h3>Conclusion</h3><div>In real-world clinical practice, bisphosphonates or denosumab might be effective in reducing the risk of VFs related to ADTs.</div></div>","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":"32 2","pages":"Pages 164-171"},"PeriodicalIF":4.6,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212123","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Belzutifan for HIF2A-Related Pheochromocytoma and Paraganglioma: A Retrospective Study of Real-World Data","authors":"Hussam Alkaissi MD, MS ,&nbsp;Sara Talvacchio RN ,&nbsp;Alberta Derkyi CRNP ,&nbsp;Sriram Gubbi MD ,&nbsp;Alberto Pappo MD ,&nbsp;Catherine M. Gordon MD, MS ,&nbsp;John Glod MD, PhD ,&nbsp;Zhengping Zhuang MD, PhD ,&nbsp;Karel Pacak MD, PhD, DSc","doi":"10.1016/j.eprac.2025.09.204","DOIUrl":"10.1016/j.eprac.2025.09.204","url":null,"abstract":"<div><h3>Objectives</h3><div>Pheochromocytoma and paraganglioma (PPGL) are rare neuroendocrine tumors of the adrenal medulla and autonomic ganglia, respectively. Germline and somatic genetic drivers are identified in up to 70% of cases. Hypoxia-inducible factor 2α (HIF-2α), encoded by the <em>EPAS1</em> (<em>HIF2A</em>) gene, plays a central role in PPGL pathogenesis and can be stabilized directly or indirectly by pathogenic variants of several genes, collectively called pseudohypoxia cluster (or Cluster 1). Belzutifan, a small-molecule HIF-2α inhibitor, has demonstrated efficacy in von Hippel–Lindau-related cancers, renal cell carcinoma, and few case reports of PPGL. We report real-world outcomes of belzutifan therapy in 5 patients with recurrent, multifocal, or metastatic <em>EPAS1</em> (<em>HIF2A</em>)-related PPGL.</div></div><div><h3>Methods</h3><div>Clinical parameters, biochemical markers, tumor burden (RECIST 1.1), and treatment-related adverse events were carefully monitored, and recorded.</div></div><div><h3>Results</h3><div>Four of 5 patients (80%) achieved a partial response, and one patient had stable disease, with no disease progression to date. The average reduction in the sum of tumor diameters was 36.8%. Chromogranin A, erythropoietin, and hemoglobin declined by 69%, 97%, and 13%, respectively, eliminating the need for therapeutic phlebotomy in patients with prior erythrocytosis. Catecholamine normalization allowed discontinuation or reduction of antihypertensive medications in 2 patients. Adverse events included hypoxia and anemia (1/5), mild transaminase elevation (2/5), and fatigue with weight gain (1/5).</div></div><div><h3>Conclusions</h3><div>Belzutifan is a highly effective and well-tolerated therapeutic option for <em>EPAS1</em>(<em>HIF2A</em>)-related PPGL, producing substantial biochemical and radiographic responses, improved blood pressure control, and resolution of erythrocytosis. These findings support belzutifan as a promising genotype-driven therapy for pseudohypoxia-driven PPGL.</div></div>","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":"32 2","pages":"Pages 201-205"},"PeriodicalIF":4.6,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145225248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Review of Automated Insulin Delivery Use in Type 1 Diabetes During Pregnancy","authors":"Elaine Young AB ,&nbsp;Andrew R. Goyette AB ,&nbsp;Jeremy F. Alkire AB ,&nbsp;Nour L. Khachemoune AB ,&nbsp;Natalie Bellini DNP, BC-ADM, CDCES ,&nbsp;Diana Isaacs PharmD, BCPS, BCACP, CDCES, BC-ADM, FADCES, FCCP","doi":"10.1016/j.eprac.2025.10.015","DOIUrl":"10.1016/j.eprac.2025.10.015","url":null,"abstract":"<div><h3>Objective</h3><div>To review the clinical evidence for automated insulin delivery (AID) use during pregnancy in people with pregestational diabetes, provide an overview of AID systems available in the United States, and offer practical tips and considerations for clinicians working with pregnant patients on these systems.</div></div><div><h3>Methods</h3><div>We synthesized findings from all randomized controlled trials investigating AID use in people with pregestational diabetes. We also compared the features of 6 AID systems and shared clinical insights on how their settings can be adjusted to better meet pregnancy-specific glycemic targets.</div></div><div><h3>Results</h3><div>Six randomized controlled trials were included, all in type 1 diabetes. Some demonstrated better glycemic outcomes in patients using AID compared to sensor-augmented pump therapy or standard insulin therapy. Others found no significant differences. Maternal and neonatal outcomes were similar to standard care, though some studies found that AID users had reduced gestational weight gain among other improvements. CamAPS FX is the only food and Drug Administration-cleared AID system for use in type 1 diabetes pregnancy, though it is not yet available in the United States. While no AID system has demonstrated the ability to meet all pregnancy-specific glycemic targets, some systems are more customizable making it easier to achieve the tighter glycemic targets in pregnancy.</div></div><div><h3>Conclusion</h3><div>For pregnant women using AID systems, there are strategies and workarounds to aid in achieving pregnancy-specific glycemic targets. However, no system consistently meets all targets. More research is needed to understand how AID use during pregnancy impacts maternal and fetal outcomes and patient-reported outcomes, especially for pre-existing type 2 diabetes.</div></div>","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":"32 2","pages":"Pages 286-292"},"PeriodicalIF":4.6,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145408480","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Redefining Thyroid Nodule Evaluation: Demographics, Misleading Symptoms, and Diagnostic Challenges. Insights From a Multicenter Study","authors":"Laura Croce MD, PhD ,&nbsp;Rosaria Maddalena Ruggeri MD, PhD ,&nbsp;Marsida Teliti MD ,&nbsp;Luca Rossi MD ,&nbsp;Elena Petrosino MD ,&nbsp;Paolo Caccavale MD ,&nbsp;Martina Laganà MD ,&nbsp;Spyridon Chytiris MD ,&nbsp;Carlo Cappelli MD ,&nbsp;Salvatore Cannavò MD ,&nbsp;Mario Rotondi MD, PhD","doi":"10.1016/j.eprac.2025.08.007","DOIUrl":"10.1016/j.eprac.2025.08.007","url":null,"abstract":"<div><h3>Objective</h3><div>Thyroid ultrasound (US) is the cornerstone for diagnosing nodular thyroid disease, yet many US examinations are prompted by nonspecific local symptoms (LS) like dysphagia or a palpable neck mass (NM). The clinical utility of such referrals remains debated.</div></div><div><h3>Methods</h3><div>This multicenter retrospective study analyzed 614 patients diagnosed with thyroid nodules (TNs) via US from 2 endocrinology centers in Italy between December 2021 and October 2022. Patients were grouped based on referral reason: symptomatic TNs, further subdivided into NM and LS, versus nonsymptomatic TNs. Clinical, ultrasonographic, and management data were compared.</div></div><div><h3>Results</h3><div>Symptomatic TNs accounted for 28.7% of cases (19.2% NM, 9.5% LS). NM patients were younger, more often female, and had larger, often cystic or isthmic-located nodules than nonsymptomatic TN patients. Conversely, LS patients had no significant differences in thyroid volume or nodule size but showed a higher prevalence of gastroesophageal reflux disease. Fine-needle aspiration was more common in the NM group because of larger nodules, but malignancy rates did not differ across groups. Surgical rates were similar, whereas thermal ablation was more frequent in the NM group.</div></div><div><h3>Conclusions</h3><div>A third of TNs are diagnosed during US prompted by LS, yet only NMs are associated with distinct nodule characteristics. Dysphagia and dysphonia were nonspecific and more related to gastroesophageal reflux disease than TNs. These findings support caution against overuse of US. Demographics, nodule features, and location should guide clinical suspicion and imaging decisions to avoid unnecessary imaging and interventions.</div></div>","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":"32 2","pages":"Pages 142-148"},"PeriodicalIF":4.6,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144947004","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Insulin Discontinuation in Youth With New-Onset Type 2 Diabetes Presenting With and Without Diabetic Ketoacidosis","authors":"Shuai Hao MD ,&nbsp;Adrianna L. Westbrook MPH ,&nbsp;Cynthia Sinha PhD ,&nbsp;Daniel S. Hsia MD ,&nbsp;Priyathama Vellanki MD","doi":"10.1016/j.eprac.2025.10.001","DOIUrl":"10.1016/j.eprac.2025.10.001","url":null,"abstract":"<div><h3>Objective</h3><div>Heterogeneity in the clinical course of type 2 diabetes in youth presenting with and without diabetic ketoacidosis (DKA) at diagnosis is not well described. We aimed to characterize if presentation of type 2 diabetes with DKA affects rates of insulin discontinuation compared with type 2 diabetes without ketosis (non-DKA).</div></div><div><h3>Methods</h3><div>This single-center retrospective cohort study included patients (body mass index z-score 2.4, IQR 2.07, 2.65) with a mean age of 15 years (IQR 13, 16), hospitalized for new-onset diabetes with DKA (n = 79) or non-DKA (n = 356) at an academic pediatric institution from January 2019 to December 2021 with follow-up until May 2023. All patients were initiated on insulin and titrated per their care team. Type 1 diabetes was excluded by presence of autoimmune antibodies. Primary outcomes were time to insulin discontinuation of insulin therapy and maintenance of discontinuation.</div></div><div><h3>Results</h3><div>Time to insulin discontinuation and proportion who discontinued did not differ between DKA and non-DKA groups (48.1% vs 44.7% respectively, <em>P</em> = .58). Trajectory analyses combining DKA and non-DKA groups identified 3 insulin discontinuation groups: early (20.1% within 2 months), late (12.5% within 6 months), and never (67.4%). Multinomial regression shows that DKA at presentation is not associated with early (<em>P</em> = .48) or late insulin discontinuation (<em>P</em> = .70) compared with never discontinuation. Insulin was restarted in 37 participants with median of 20 months (IQR 16, 24) after insulin discontinuation.</div></div><div><h3>Conclusions</h3><div>Despite not showing differences in insulin discontinuation in youth with new-onset type 2 diabetes with and without DKA at presentation, we identified heterogeneity in duration of insulin treatment in the combined group.</div></div>","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":"32 2","pages":"Pages 194-200"},"PeriodicalIF":4.6,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145312626","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Glucocorticoid Resistance Syndrome: A Systematic Review of the Genotypes, Phenotypes, and Their Relationships","authors":"Shirui Wang MD,&nbsp;Wan Su MBBCH,&nbsp;Lian Duan MD, PhD,&nbsp;Fengying Gong PhD,&nbsp;Shi Chen MD,&nbsp;Linjie Wang MD, PhD,&nbsp;Hui Pan MD,&nbsp;Lin Lu MD,&nbsp;Huijuan Zhu MD","doi":"10.1016/j.eprac.2025.09.199","DOIUrl":"10.1016/j.eprac.2025.09.199","url":null,"abstract":"<div><h3>Objective</h3><div>Generalized glucocorticoid residestance syndrome is a rare disorder caused by mutations in NR3C1. We aimed to systematically characterize its clinical, biochemical, and genetic features and quantitatively evaluate their inter-relationships.</div></div><div><h3>Methods</h3><div>We conducted a systematic literature review, identifying 67 cases from 33 published reports, and included 4 unreported cases from Peking Union Medical College Hospital.</div></div><div><h3>Results</h3><div>In total, 71 cases from 43 unrelated families were analyzed, encompassing 39 distinct NR3C1 mutations. The most frequent clinical manifestations were symptoms of androgen excess (43.3%), followed by mineralocorticoid excess (38.8%) and glucocorticoid deficiency (14.9%). Elevated post-low-dose dexamethasone suppression test cortisol was the predominant hormonal abnormality (97.8%). Adrenal computed tomography revealed hyperplasia or adenomas in 68.8% of evaluated patients. Compared with heterozygotes, those with homozygous/compound heterozygous mutations presented earlier (19.9 vs 35.5 year old, <em>P</em> = .007), with markedly higher prevalence of hypertension/hypokalemia (90.9% vs 28.6%, odds ratio 25.00 [95% confidence interval 2.95 -211.61], <em>P</em> &lt; .001) and higher cortisol (3.20 [1.19, 2.63] vs 1.40 [0.59, 1.20] × upper limit of normal [ULN], <em>P</em> = .002), adrenocorticotropic hormone (4.81 [1.71, 13.00] vs 1.04 [1.00, 1.76] × ULN, <em>P</em> = .001), and testosterone levels (1.84 [1.34, 2.79] vs 0.89 [0.55, 1.77] × ULN, <em>P</em> = .047). Sensitivity analyses restricted to probands confirmed these associations. Clinical manifestations correlated with elevated cortisol, and lower renin was observed in patients with hypertension/hypokalemia.</div></div><div><h3>Conclusion</h3><div>This study provided the most comprehensive quantitative synthesis to date of glucocorticoid resistance syndrome, highlighting genotype-phenotype correlations and advancing understanding of its clinical and hormonal spectrum.</div></div>","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":"32 2","pages":"Pages 206-217"},"PeriodicalIF":4.6,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prevalence and Associated Risk Factors for Venous Thromboembolism in a Large Cohort of Patients With Cushing Disease","authors":"Ana Julia Garcia Pereira MD, PhD ,&nbsp;Rafael Loch Batista MD, PhD ,&nbsp;Malebranche Berardo Carneiro Cunha-Neto MD ,&nbsp;Valter Angelo Sperling Cescato MD, PhD ,&nbsp;Gilberto Ochman da Silva MD, PhD ,&nbsp;Maria Candida Barisson Villares Fragoso MD, PhD, Livre-Docente ,&nbsp;Ines Nobuko Nishimoto PhD ,&nbsp;Andrea Glezer MD, PhD ,&nbsp;Marcio Carlos Machado MD, PhD","doi":"10.1016/j.eprac.2025.10.005","DOIUrl":"10.1016/j.eprac.2025.10.005","url":null,"abstract":"<div><h3>Objective</h3><div>Endogenous Cushing syndrome is associated with an intrinsic hypercoagulable state and an increased risk of venous thromboembolism (VTE). This study aimed to determine the prevalence and risk factors for VTE in a large cohort of patients with Cushing disease (CD).</div></div><div><h3>Methods</h3><div>A retrospective study was conducted at a tertiary care center, including 408 patients diagnosed with CD. Clinical, laboratory, hormonal, imaging, and outcome data were analyzed and compared based on the occurrence of VTE events. A control group of 323 patients with clinically nonfunctioning pituitary adenomas, all macroadenomas, who underwent similar surgical procedures, was used for comparison.</div></div><div><h3>Results</h3><div>VTE events were observed in 35 patients with CD (8.6%) and in 1 patient from the nonfunctioning pituitary adenoma group (0.3%; <em>P</em> &lt; .001). The slight majority of VTE events (54%) occurred in the preoperative period. Logistic regression analysis identified obesity, mood disorders, supraclavicular fossa fullness, leukopenia or leukocytosis, elevated cortisol levels (both serum and 24-hour urinary cortisol), and the presence of postoperative complications (such as infections, cerebrospinal fluid leak, and vasopressin deficiency) as significant risk factors for VTE.</div></div><div><h3>Conclusion</h3><div>The findings of this study confirm a high prevalence of VTE events in patients with CD, irrespective of the surgical period. Risk factors associated with a higher likelihood of VTE include obesity, severity of hypercortisolism, and the occurrence of postoperative complications. In this patient population, thromboprophylaxis should be considered.</div></div>","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":"32 2","pages":"Pages 227-235"},"PeriodicalIF":4.6,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145312668","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Thyroid Function Testing During Pregnancy After Partial Thyroidectomy Versus the General Population: A Nationwide Retrospective Cohort","authors":"Raviv Allon MD ,&nbsp;Dor Atias MD ,&nbsp;Nofar Ben-Basat MD ,&nbsp;Guy Melamed BSc ,&nbsp;Yaki Saciuk MPH ,&nbsp;Tal Patalon MD","doi":"10.1016/j.eprac.2025.10.003","DOIUrl":"10.1016/j.eprac.2025.10.003","url":null,"abstract":"<div><h3>Objective</h3><div>Thyroid function screening during pregnancy remains controversial, particularly regarding whether it should be universal or limited to high-risk groups. In addition, there is variability in the degree of surveillance, and recent American Thyroid Association guidelines suggest that risk groups should be followed throughout pregnancy. This study compares thyroid function surveillance between pregnant women following partial thyroidectomy and the general pregnant population.</div></div><div><h3>Methods</h3><div>In this national retrospective matched cohort study, data from the Maccabi Healthcare Services database were analyzed for pregnancies from 2002 to 2023 in women aged ≥18 years. The exposure group included pregnancies in women with a history of partial thyroidectomy, and the nonexposure group had no thyroidectomy. The primary outcome was the frequency of serum thyroid-stimulating hormone (TSH) measurements during pregnancy. The secondary outcome was the incidence of gestational hypothyroidism, defined as elevated TSH or initiation of levothyroxine during pregnancy.</div></div><div><h3>Results</h3><div>A total of 718 pregnancies in 465 partial thyroidectomy women and 929 022 pregnancies in 398 472 women in the general population were included. TSH was measured in 81% of pregnancies in the partial thyroidectomy group versus 62% in the general population (<em>P</em> &lt; .01). Testing across all 3 trimesters was 18% compared to 3% (<em>P</em> &lt; .01). The prevalence of elevated TSH was significantly higher in the partial thyroidectomy group (9% vs 4%, <em>P</em> &lt; .01).</div></div><div><h3>Conclusion</h3><div>Thyroid screening during pregnancy remains suboptimal. Pregnancies following partial thyroidectomy receive more frequent monitoring, suggesting recognition of their high-risk status. Findings highlight the need for better implementation of risk-based surveillance.</div></div>","PeriodicalId":11682,"journal":{"name":"Endocrine Practice","volume":"32 2","pages":"Pages 157-163"},"PeriodicalIF":4.6,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145307254","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}