Journal of Clinical and Translational Endocrinology最新文献

{"title":"Corrigendum to “False negative rate and concordance of ThyGeNEXT®+ThyraMIR® testing with post-thyroidectomy histopathology” [J. Clin. Translat. Endocrinol. 40 (2025) 100396]","authors":"Sobrina S. Mohammed , Daniel Mettman , Mariana Garcia-Touza , Betty Drees , Maricel Ridella","doi":"10.1016/j.jcte.2025.100397","DOIUrl":"10.1016/j.jcte.2025.100397","url":null,"abstract":"","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"40 ","pages":"Article 100397"},"PeriodicalIF":4.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144185076","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":"Corrigendum to “Prediction of BRAF and TERT status in PTCs by machine learning-based ultrasound radiomics methods: A multicenter study” [J. Clin. Translat. Endocrinol. 40 (2025) 100390]","authors":"Hui Shi , Ke Ding , Xue Ting Yang , Ting Fan Wu , Jia Yi Zheng , Li Fan Wang , Bo Yang Zhou , Li Ping Sun , Yi Feng Zhang , Chong Ke Zhao , Hui Xiong Xu","doi":"10.1016/j.jcte.2025.100394","DOIUrl":"10.1016/j.jcte.2025.100394","url":null,"abstract":"","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"40 ","pages":"Article 100394"},"PeriodicalIF":4.2,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144185075","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":"Glucocorticoids: The culprit behind metabolic disorders in primary Aldosteronism? A narrative review","authors":"Piotr Kmieć ,&nbsp;Renata Świątkowska-Stodulska","doi":"10.1016/j.jcte.2025.100401","DOIUrl":"10.1016/j.jcte.2025.100401","url":null,"abstract":"<div><div>In recent years, a new approach toward aldosterone secretion autonomy has emerged as a consequence of studies demonstrating its continuum from subclinical, mild to overt and severe forms. These clinical insights were accompanied by immense progress in deciphering the tissue and cellular pathology underlying primary aldosteronism (PA).</div><div>Thus far, research has not sufficiently elucidated the relationships between overt PA and metabolic disorders. Similarly, the role of glucocorticoid cosecretion in this patient group remains unclear. Milder than overt PA forms have been scarcely investigated.</div><div>This review critically analyzes these issues on the basis of a literature search of the PubMed database.</div></div>","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"41 ","pages":"Article 100401"},"PeriodicalIF":4.2,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144169423","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":"Predictors of conversion to surgery in pituitary apoplexy: Insights from a Spanish multicenter observational study","authors":"Betina Biagetti ,&nbsp;Esteban Cordero Asanza ,&nbsp;Carlos Pérez-López ,&nbsp;Víctor Rodríguez Berrocal ,&nbsp;Almudena Vicente ,&nbsp;Cristina Lamas ,&nbsp;Fernando Guerrero-Pérez ,&nbsp;Andreu Simó-Servat ,&nbsp;Guillermo Serra ,&nbsp;Ana Irigaray Echarri ,&nbsp;M. Dolores Ollero ,&nbsp;Inmaculada González Molero ,&nbsp;Rocío Villar-Taibo ,&nbsp;María Dolores Moure Rodríguez ,&nbsp;Pablo García-Feijoo ,&nbsp;María Noelia Sánchez Ramirez ,&nbsp;Alba Gutiérrez Hurtado ,&nbsp;Vanessa Capristan-Díaz ,&nbsp;Rosa Camara ,&nbsp;Marta Gallach ,&nbsp;Marta Araujo-Castro","doi":"10.1016/j.jcte.2025.100399","DOIUrl":"10.1016/j.jcte.2025.100399","url":null,"abstract":"<div><h3>Background</h3><div>Pituitary apoplexy (PA) is a rare but potentially life-threatening condition. While conservative management is an option in selected cases, predictors of conversion to surgery after initial conservative management remain unclear.</div></div><div><h3>Objective</h3><div>To identify predictors of transitioning to surgery in PA who were initially managed conservatively, and to assess the timing and impact of surgical conversion.</div></div><div><h3>Methods</h3><div>This multicenter observational study included 134 patients with PA initially managed conservatively. Patients were categorized into successful conservative management (no surgery or surgery scheduled after 30 days) and conversion to surgery (surgery within 8–30 days). Logistic and Cox regression analyses were performed to identify predictors of conversion to surgery and time to transition, respectively.</div></div><div><h3>Results</h3><div>Among the 134 patients enrolled, the median age was 61.4 years (interquartile range: 16.0) years and 93 (69.4 %) men], 69 (51.5 %) ultimately required surgery, with most transitions occurring within the first two weeks. In logistic regression analysis, larger tumor size (OR: 1.09, 95 % CI: 1.02–1.16) and higher BMI (OR: 1.11, 95 % CI: 1.01–1.22) were independently associated with conversion to surgery. However, Cox regression did not identify any variables predicting time to transition. Additionally, patients who converted to surgery had a significantly longer hospital stay (21.0 vs. 7.5 days, p &lt; 0.01).</div></div><div><h3>Conclusion</h3><div>Half of the patients initially managed conservatively required convertion to surgery. Tumor size and BMI were associated with an increased likelihood of surgery, but no factors predicted when surgery would occur, suggesting that the decision to conversion to surgery may be influenced by multiple clinical factors rather than a single determinant.</div></div>","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"40 ","pages":"Article 100399"},"PeriodicalIF":4.2,"publicationDate":"2025-05-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143942251","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":"Genetic variants and characterization of MODY in a single, large pediatric referral center","authors":"Lily Deng,&nbsp;Amy S. Shah,&nbsp;Mansa Krishnamurthy","doi":"10.1016/j.jcte.2025.100398","DOIUrl":"10.1016/j.jcte.2025.100398","url":null,"abstract":"<div><h3>Background</h3><div>Identifying Maturity-onset diabetes of the young (MODY) is essential as treatment differs from other forms of diabetes. Clinical characteristics and MODY probability calculator (MPC) scores were evaluated in patients with MODY.</div></div><div><h3>Methods</h3><div>Retrospective chart review using MODY diagnoses and genetic testing was performed to identify patients with MODY gene variants at a large, pediatric tertiary referral center. Demographics, islet autoantibodies, and co-morbidities were evaluated with treatment change after diagnosis of MODY. Probability scores were calculated using the MPC.</div></div><div><h3>Results</h3><div>Thirty-nine patients were identified with MODY. MODY comprised 1 % of the population with diabetes. Mean age and HbA1c at diagnosis were 12.2 years and 7.9 %, respectively. Positive islet cell autoantibodies were seen in 2 individuals. For race, 23.1 % self-identified as Hispanic, Black, or Asian/Pacific Islander. Interestingly, 39.47 % did not require medication at diagnosis while 44.74 %, 10.53 %, and 2.63 % were treated with insulin, Metformin, and GLP-1 RA respectively. Seventy-four percent of patients with MODY had MPC scores of &gt; 75 %. Targeted treatment with sulfonylureas was used for 38 % of total patients who remained on medication, and 20.5 % of patients were able to discontinue medication. Average HbA1c decreased for all patients with MODY regardless of medication treatment type at follow up.</div></div><div><h3>Conclusions</h3><div>Our data reveals that the presence of positive islet cell antibodies may not preclude a diagnosis of MODY if there is a strong clinical suspicion. High MPC scores correlated with diagnoses of MODY except in patients with insulin dependence. Diagnosis of MODY led to targeted treatment changes.</div></div>","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"40 ","pages":"Article 100398"},"PeriodicalIF":4.2,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143942250","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":"False negative rate and concordance of ThyGeNEXT®+ThyraMIR® testing with post-thyroidectomy histopathology","authors":"Sobrina S. Mohammed ,&nbsp;Daniel Mettman ,&nbsp;Mariana Garcia-Touza ,&nbsp;Maricel Ridella ,&nbsp;Betty Drees","doi":"10.1016/j.jcte.2025.100396","DOIUrl":"10.1016/j.jcte.2025.100396","url":null,"abstract":"<div><h3>Objective</h3><div>This study aimed to assess the false negative rate (FNR) and concordance of pre-operative ThyGeNEXT®+ThyraMIR® testing in Bethesda category III-V thyroid nodules by comparing results with post-surgical histopathology in thyroid cancer.</div></div><div><h3>Methods</h3><div>A retrospective review was conducted on 19 patients with Bethesda III-V thyroid nodules who underwent ThyGeNEXT®+ThyraMIR® testing followed by total thyroidectomy with histopathology confirming thyroid cancer. Fine needle aspiration (FNA) cytology, molecular test results, post-surgical histopathology and comprehensive genomic profiling reports (when available) were examined. Concordance was assessed by comparing pre-operative test results (mutations or malignant miRNA expression) to post-surgical histopathology. Discrepancies were further explored using Tempus xT genomic profiling for additional mutations and evaluation of tumor heterogeneity. The FNR was calculated accordingly.</div></div><div><h3>Results</h3><div>FNR was 10.5 % and there was a high positive concordance with 89.5 % of cases testing positive for mutations or malignant miRNA classifiers. TERT c.-146C&gt;T, NRAS Q61R, and BRAF V600E were among mutations identified. Comprehensive genomic profiling clarified false negatives, revealing insights into the impact of tumor heterogeneity. The miRNA classifier proved effective in detecting malignancy, in cases with subthreshold and RAS mutations or without common genetic alterations. Reliable results were obtained from diverse specimen types.</div></div><div><h3>Conclusions</h3><div>The low false-negative rate and positive concordance with histopathology highlights the utility of ThyGeNEXT® + ThyraMIR® in enhancing risk stratification and guiding personalized management of indeterminate thyroid nodules and thyroid cancer.</div></div>","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"40 ","pages":"Article 100396"},"PeriodicalIF":4.2,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143876906","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":"Treatment of hypothyroidism with the combination of levothyroxine and slow-release triiodothyronine: a randomized clinical trial","authors":"F. Azizi ,&nbsp;A.S. Moeini ,&nbsp;L. Mehran ,&nbsp;S. Masoumi ,&nbsp;H. Abdi ,&nbsp;S.M. Foroutan ,&nbsp;A.E. Saghafinia ,&nbsp;A. Amouzegar","doi":"10.1016/j.jcte.2025.100395","DOIUrl":"10.1016/j.jcte.2025.100395","url":null,"abstract":"<div><h3>Background</h3><div>Some patients with hypothyroidism lack satisfaction with levothyroxine (LT4) monotherapy, which may be related to lower serum triiodothyronine (T3) and T3/T4 ratios compared to control individuals. This study aimed to evaluate the efficacy and safety of a combination therapy of slow-release T3 (SRT3) and LT4 in patients with primary hypothyroidism compared with LT4 monotherapy.</div></div><div><h3>Methods</h3><div>Thirty-two hypothyroid women were randomized into two groups of SRT3 + LT4 combination and LT4 monotherapy. Group one received a combination of 15 µg SRT3 and 75 µg LT4, and group two received 100 µg LT4 daily for 8 weeks. Clinical and biochemical measurements were performed at baseline and 4 to 8 weeks after intervention.</div></div><div><h3>Results</h3><div>There were no significant changes in serum levels of fT4, T3, TSH, and T3/fT4 ratio in the LT4 group at the end of 4 to 8 weeks of study. A statistically significant decrease in fT4 and TSH, and an increase in serum T3 and the T3/fT4 ratio, were observed in the SRT3 + LT4 group. The T3/fT4 ratio reached comparable values to those in normal subjects, 93.63 ± 23.25 vs 95.06 ± 19.44 ng/ng, respectively. The rise in the T3/fT4 ratio 8 weeks after SRT3 + LT4 treatment was between 21 % and 90 % in 10 patients and 1 % and 13 % in 5 patients, with no change in one patient.</div></div><div><h3>Conclusion</h3><div>The novel combination of SRT3 + LT4 therapy resulted in a significant increase in serum T3 and the T3/fT4 ratio in hypothyroid patients compared to those receiving LT4 monotherapy. The rise in the T3/fT4 ratio was ≥ 21 % in two-thirds of patients; the lack of a significant increase in the T3/fT4 ratio in some patients during SRT3-LT4 combination therapy demands further investigation.</div></div>","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"40 ","pages":"Article 100395"},"PeriodicalIF":4.2,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143904509","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":"Association of total and bioactive serum sclerostin levels with bone metabolism in type 2 diabetes mellitus","authors":"Cyril Traechslin ,&nbsp;Lilian Sewing ,&nbsp;Sandra Baumann ,&nbsp;Leticia Grize ,&nbsp;Janina Vavanikunnel ,&nbsp;Marius Kraenzlin ,&nbsp;Christoph Henzen ,&nbsp;Christian Meier","doi":"10.1016/j.jcte.2025.100393","DOIUrl":"10.1016/j.jcte.2025.100393","url":null,"abstract":"<div><h3>Background</h3><div>Sclerostin has been associated with decreased bone turnover in patients with type 2 diabetes mellitus (T2DM). The relationship with bone turnover markers (BTMs) and bone mineral density (BMD) remains unclear. We investigate the relationship between total and bioactive sclerostin measured by three different assays with BTMs and BMD in patients with T2DM compared to healthy controls.</div></div><div><h3>Methods</h3><div>Baseline data from the cross-sectional multicenter DiabOS-study in Switzerland were analysed. Total and bioactive serum sclerostin levels were measured using three different ELISA-based sclerostin assays (Sclerostin Biomedica, Sclerostin bioactive Biomedica and Sclerostin hsTECO). Sclerostin levels in patients with T2DM and controls were correlated with BTMs and BMD.</div></div><div><h3>Results</h3><div>Data were analysed from 78 men and postmenopausal women with T2DM and 37 controls (aged 50–75 years). Serum sclerostin levels, adjusted for estimated glomerular filtration rate (eGFR), were higher in patients with T2DM compared to controls with all three assays. In a gender subgroup analysis, bioactive sclerostin levels remained significantly elevated in men with T2DM (T2DM, 106.8 ± 39.9 pmol/L; controls, 88.3 ± 21.3 pmol/L, p = 0.03).</div><div>Univariate analysis showed consistent significant correlations with all sclerostin assays for age, eGFR, glycated hemoglobin A1c and diabetes duration. However, in multivariate analysis, eGFR remained the only significant determinant of serum sclerostin levels. Sclerostin levels in patients with T2DM showed significant positive correlations with BMD but no significant correlations with BTMs.</div></div><div><h3>Conclusions</h3><div>We demonstrate a significant positive association of bioactive serum sclerostin with BMD at all measured sites in patients with T2DM, which may support its utility in the assessment of bone fragility in this population.</div></div>","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"40 ","pages":"Article 100393"},"PeriodicalIF":4.2,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143820467","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":"Effect of GIP and GLP-1 infusion on bone resorption in glucose intolerant, pancreatic insufficient cystic fibrosis","authors":"Wang Shin Lei ,&nbsp;XianYan Chen ,&nbsp;Lingyu Zhao ,&nbsp;Tanicia Daley ,&nbsp;Bradley Phillips ,&nbsp;Michael R. Rickels ,&nbsp;Andrea Kelly ,&nbsp;Joseph M. Kindler","doi":"10.1016/j.jcte.2025.100392","DOIUrl":"10.1016/j.jcte.2025.100392","url":null,"abstract":"<div><h3>Context</h3><div>Diabetes and bone disease are common in cystic fibrosis (CF) and primarily occur alongside exocrine pancreatic insufficiency (PI). “Incretins,” glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like peptide 1 (GLP-1), augment insulin secretion and regulate bone metabolism. In CF, PI dampens the incretin response. Loss of the insulinotropic effect of GIP in CF was recently identified, but effects on bone are unknown.</div></div><div><h3>Objective</h3><div>Determine effects of incretins on bone resorption markers in adults with PI-CF.</div></div><div><h3>Design</h3><div>Secondary analysis of a mechanistic double-blinded randomized placebo-controlled crossover trial including adults ages 18–40 years with PI-CF (n = 25).</div></div><div><h3>Intervention</h3><div>Adults with PI-CF received either GIP (4 pmol/kg/min) or GLP-1 (1.5 pmol/kg/min) infusion, followed by double-blind randomization to either incretin or placebo infusion. Non-CF healthy controls received double-blind GIP (4 pmol/kg/min) or placebo. Serum C-terminal telopeptide (CTX), a bone resorption marker, was assessed during the infusion over 80 (GIP) or 60 (GLP-1) minutes.</div></div><div><h3>Main Outcome Measures</h3><div>CTX (mg/dL) concentrations.</div></div><div><h3>Results</h3><div>In PI-CF, CTX decreased during GIP infusion, but not during placebo (time-by-treatment interaction P &lt; 0.01). GLP-1 did not affect CTX. In non-CF healthy controls, time-by-treatment interaction was not significant (P = 0.23), but CTX decreased during GIP (P = 0.02) but not placebo (P = 0.47).</div></div><div><h3>Conclusions</h3><div>GIP evokes a bone anti-resorptive effect in people with PI-CF. Since the incretin response is perturbed in PI-CF, and an infusion of GIP lowers bone resorption, the “gut-bone axis” in CF-related bone disease requires attention.</div></div>","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"40 ","pages":"Article 100392"},"PeriodicalIF":4.2,"publicationDate":"2025-04-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143825630","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":"Germline genetic variants in young-onset sporadic pituitary macroadenomas: A multigene panel analysis","authors":"Leonor M. Gaspar ,&nbsp;Catarina I. Gonçalves ,&nbsp;Ema L. Nobre ,&nbsp;Fernando Fonseca ,&nbsp;Cláudia Amaral ,&nbsp;João S. Duarte ,&nbsp;Luísa Raimundo ,&nbsp;Catarina Saraiva ,&nbsp;Luísa Cortez ,&nbsp;Olinda Marques ,&nbsp;Manuel C. Lemos","doi":"10.1016/j.jcte.2025.100389","DOIUrl":"10.1016/j.jcte.2025.100389","url":null,"abstract":"<div><div>Mutations in several genes have been associated with familial forms of pituitary adenomas. Sporadic pituitary adenomas (i.e. with no family history or coexistent endocrine tumours) are also occasionally found to result from germline mutations in these genes, especially in young patients with larger tumours. The aim of this study was to determine the frequency of germline mutations in patients with young-onset sporadic pituitary macroadenomas. A cohort of 225 Portuguese patients with sporadic pituitary macroadenomas diagnosed before the age of 40 years was studied by whole exome sequencing (WES) followed by the analysis of a virtual panel of 29 genes that have been associated with predisposition to pituitary adenomas. Pathogenic and likely pathogenic variants were identified in 16 (7.1 %) of patients. The affected genes were <em>AIP</em> (n = 4), <em>PMS2</em> (n = 4), <em>MEN1</em> (n = 2), <em>VHL</em> (n = 2), <em>CDH23</em> (n = 1), <em>MSH2</em> (n = 1), <em>SDHB</em> (n = 1), and <em>TP53</em> (n = 1). In patients diagnosed under the ages of 30 and 18 years, the frequency of pathogenic and likely pathogenic variants increased to 9.0 % and 12.0 %, respectively. This is so far the largest multigene analysis of patients with young-onset sporadic pituitary macroadenomas. We confirmed the <em>AIP</em> as the most frequently involved gene, but also uncovered rarer genetic causes of pituitary adenomas. The results may contribute to a better understanding of the genetic landscape of these tumours and help to decide which genes to include in the genetic screening of patients with young-onset pituitary macroadenomas.</div></div>","PeriodicalId":46328,"journal":{"name":"Journal of Clinical and Translational Endocrinology","volume":"40 ","pages":"Article 100389"},"PeriodicalIF":4.2,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143800247","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}