Journal of Endocrinological Investigation最新文献

{"title":"The mystery of Mont'e Prama: sculptures, acromegaly, and nuragic society.","authors":"Valentino Marino Picciola, Maria Rosaria Ambrosio, Maria Chiara Zatelli","doi":"10.1007/s40618-025-02605-5","DOIUrl":"https://doi.org/10.1007/s40618-025-02605-5","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143988918","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 response to burosumab in adults with X-linked hypophosphatemia: real-world data from an Italian cohort.","authors":"Gaetano Paride Arcidiacono, Valentina Camozzi, Giovanni Tripepi, Cristina Eller-Vainicher, Giuseppe Vezzoli, Maria Luisa Brandi, Gemma Marcucci, Giuseppe Girasole, Antonio Aversa, Corrado Vitale, Gaetana Cerbone, Maria Michela D'Alessandro, Martina Zaninotto, Maria Fusaro, Marco Onofrio Torres, Michele Cannito, Alberta Cecchinato, Martin Diogo, Mor Peleg Falb, Francesca Guidolin, Marta Zampogna, Mario Plebani, Elena Campello, Paolo Simioni, Stefania Sella, Sandro Giannini","doi":"10.1007/s40618-025-02596-3","DOIUrl":"https://doi.org/10.1007/s40618-025-02596-3","url":null,"abstract":"<p><strong>Purpose: </strong>X-linked hypophosphatemia (XLH) is a genetic disorder characterized by elevated FGF23 levels, leading to phosphate wasting and hypophosphatemia, causing skeletal and extraskeletal abnormalities. Burosumab, an antibody targeting FGF23, improves hypophosphatemia and clinical outcomes. This study evaluated the real-world efficacy of burosumab and identify predictors of treatment response.</p><p><strong>Methods: </strong>Twenty-seven adult XLH patients (mean age 42 years; 48% female) from an Italian multicenter cohort were treated with burosumab for up to 24 weeks. Laboratory tests were evaluated at midpoints and endpoints (14 and 28 days) of the dosing interval. In a subset of patients (N = 11) followed for 48 weeks, laboratory tests and patient-reported outcomes were also assessed.</p><p><strong>Results: </strong>After initiating burosumab, median serum phosphate levels increased from 1.5 mg/dL (IQR 1.3-1.8) to 2.0 mg/dL (IQR 1.7-2.4) (p < 0.05), remaining higher than baseline at the midpoints of the dosing interval for up to 24 weeks. Higher baseline phosphate predicted higher midpoint levels (p < 0.05), whereas higher baseline PTH (p < 0.05) and FGF23 (p < 0.001) were associated with lower phosphate levels at midpoints. In patients (N = 11) followed for 48 weeks, significant improvements in patient-reported outcomes in all patients were observed. Both WOMAC Pain (r = 0.94, p = 0.02) and BPI Worst Pain (r = 0.98, p < 0.001) were positively correlated with increased phosphate at week 48.</p><p><strong>Conclusion: </strong>Burosumab effectively increased serum phosphate levels and improved clinical outcomes in a real-world setting, particularly in patients with more substantial increases in serum phosphate levels. Baseline serum phosphate, PTH, and FGF23 levels predicted response, helping tailor treatment strategies and improve long-term patient management.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144065039","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":"Insulin sensitivity index independently predicts serum IGF-1 decreases in adolescents with long-term exercise.","authors":"Xiaoyuan Guo, Jiaqi Qiang, Zhibo Zhou, Yuxin Sun, Yutong Wang, Yuelun Zhang, Hongbo Yang, Huijuan Zhu, Mei Zhang, Bo Ban, Shi Chen, Hui Pan","doi":"10.1007/s40618-025-02562-z","DOIUrl":"https://doi.org/10.1007/s40618-025-02562-z","url":null,"abstract":"<p><strong>Background: </strong>The study aims to investigate associations between insulin sensitivity and insulin-like growth factor-1 (IGF-1) in adolescents engaged in long-term exercise training, and to assess the impact on growth.</p><p><strong>Methods: </strong>We conducted a prospective cohort study and followed for 1 year from a general high school (non-exercise group, age 13.3 ± 0.5 years, n = 149) and an exercise training school (exercise group, age 13.5 ± 1.3 years, n = 100). Growth indices, insulin sensitivity assessed using the Quantitative Insulin Sensitivity Check Index (QUICKI), and IGF-1 levels were obtained.</p><p><strong>Results: </strong>Participants in the exercise group exhibited higher QUICKI and lower IGF-1 levels. In the exercise group, IGF-1 was independently associated with QUICKI cross-sectionally at baseline and follow-up. Longitudinal analysis revealed that QUICKI at baseline was independently associated with IGF-1 levels at follow-up in the exercise group (β = -532.926, P = 0.032). Such associations were not found in non-exercise group. Additionally, no impairments in growth indices were observed in the exercise group.</p><p><strong>Conclusions: </strong>Our findings suggest that QUICKI is an independent predictor of IGF-1 levels in adolescents with a long-term exercise regimen.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144054921","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":"Screening of primary aldosteronism and pheochromocytoma among patients with hypertension: an Italian nationwide survey.","authors":"Silvia Monticone, Jessica Goi, Jacopo Burrello, Guido Di Dalmazi, Arrigo F G Cicero, Costantino Mancusi, Elena Coletti Moia, Guido Iaccarino, Franco Veglio, Claudio Borghi, Maria L Muiesan, Claudio Ferri, Paolo Mulatero","doi":"10.1007/s40618-025-02532-5","DOIUrl":"10.1007/s40618-025-02532-5","url":null,"abstract":"<p><strong>Purpose: </strong>The delayed or missed diagnosis of secondary hypertension contributes to the poor blood pressure control worldwide. This study aimed to assess the diagnostic approach to primary aldosteronism (PA) and pheochromocytoma (PHEO) among Italian centers associated to European and Italian Societies of Hypertension.</p><p><strong>Methods: </strong>Between July and December 2023, a 10-items questionnaire was administered to experts from 82 centers of 14 Italian regions and to cardiologists from the ARCA (Associazioni Regionali Cardiologi Ambulatoriali) Piemonte. Results were stratified for geographical area, specialty, and center category (excellence vs. non-excellence centers).</p><p><strong>Results: </strong>Each center diagnosed an average of 2 cases of PA and 0.2 cases of PHEO annually, with higher figures in excellence centers. PA screening is performed mainly in patients with resistant hypertension (73.2%) or hypertension and spontaneous hypokalemia (84.1%), while only 17.1% and 35.4% of centers screen patients with grade 2-3 hypertension. Screening rate is lower for cardiologists compared to other specialists. The main barriers to wider testing were challenges in interpreting the aldosterone/renin ratio under interfering medications and switching to non-interfering drugs. Clinical scores to predict the likelihood of PA and the definition of Standard Operating Procedures were identified as potential tools to boost screening rates. Testing for PHEO was mostly conducted in patients with typical symptoms (75.6%) and/or hypertensive crisis (74.4%). Only 37.8% of centers screened all patients with adrenal incidentaloma.</p><p><strong>Conclusion: </strong>This study highlights significant gaps in the screening and diagnosis of PA and PHEO across Italian centers and underscores the need for widespread and standardized diagnostic protocols.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"1197-1205"},"PeriodicalIF":5.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049289/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014456","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":"Leukocytosis in Cushing's syndrome persists post-surgical remission and could predict a lower remission prognosis in patients with Cushing's disease.","authors":"Hiba Masri-Iraqi, Yaron Rudman, Tzipora Shochat, Shiri Kushnir, Ilan Shimon, Maria Fleseriu, Amit Akirov","doi":"10.1007/s40618-025-02535-2","DOIUrl":"10.1007/s40618-025-02535-2","url":null,"abstract":"<p><strong>Context: </strong>Leukocytosis frequently noted in Cushing's syndrome (CS), along with other blood cell changes caused by direct and indirect cortisol effects.</p><p><strong>Objective: </strong>Assess baseline white blood cell (WBC) profile in CS patients compared to controls and WBC changes pre- and post-remission after surgical treatment for CS.</p><p><strong>Design: </strong>A comparative nationwide retrospective cohort study.</p><p><strong>Setting: </strong>Data from Clalit Health Services database.</p><p><strong>Patients: </strong>297 patients (mean age 51 ± 16.1 years, 73.0% women) with CS and 997 age-, sex-, body mass index-, and socioeconomic status-individually matched controls. Ectopic CS or adrenal cancer patients were excluded.</p><p><strong>Main outcome measure: </strong>Mean WBC, neutrophils, and neutrophil-to-lymphocyte ratio (NLR) two-years before and after pituitary or adrenal surgery. WBC and neutrophils are expressed as Kcells/µl.</p><p><strong>Results: </strong>At baseline, leukocytosis was observed in 21.5% of patients with CS vs. 8.9% of controls (P < 0.001). Patients with CS had significantly higher WBC (8.8 ± 2.88 vs. 7.54 ± 2.45, p < 0.0001), neutrophils (5.82 ± 2.38 vs. 4.48 ± 1.97, p < 0.0001), and NLR (3.37 ± 2.63 vs. 2.27 ± 1.86, p < 0.0001) compared to controls, regardless of pituitary or adrenal source of hypercortisolemia. Post-surgery, patients with CS experienced significant decreases in mean WBC (-0.57 ± 2.56, p < 0.0001), neutrophils (-0.84 ± 2.55, p < 0.0001), and NLR (-0.63 ± 2.7, p < 0.0001). Despite achieving disease remission, patients with CS still had higher WBC (8.11 ± 2.4 vs. 7.46 ± 2.17, p = 0.0004) and neutrophils (4.71 ± 2.10 vs. 4.41 ± 1.87, p = 0.03) compared to controls. Patients with CD and baseline leukocytosis had lower remission rate than those with normal WBC (36.7% vs. 63.9%, p = 0.01).</p><p><strong>Conclusions: </strong>At diagnosis, CS patients have elevated WBC, neutrophils, and NLR compared to controls. Remission does not normalize WBC levels in all patients, and baseline leukocytosis predicts a poorer remission prognosis in CD.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"1217-1224"},"PeriodicalIF":5.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049384/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143053988","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":"Early administration of romosozumab prevents rebound of bone resorption related to denosumab withdrawal in fractured post-menopausal women: a real-world prospective study.","authors":"Alberto Piasentier, Alessandro Fanti, Maria Francesca Birtolo, Walter Vena, Roberto Colle, Lucrezia Maria Silvana Gentile, Simona Jaafar, Antonio Carlo Bossi, Andrea G Lania, Gherardo Mazziotti","doi":"10.1007/s40618-025-02542-3","DOIUrl":"10.1007/s40618-025-02542-3","url":null,"abstract":"<p><strong>Purpose: </strong>The real-world effectiveness of switching from denosumab to romosozumab remains controversial. Sequential therapy with romosozumab was shown to be associated with inadequate suppression of bone resorption and there was anecdotal evidence of major osteoporotic fractures (MOFs) after transitioning from denosumab to romosozumab. This study evaluated the effects on bone resorption of early romosozumab administration 3 months after denosumab withdrawal in fractured women with post-menopausal osteoporosis.</p><p><strong>Methods: </strong>This prospective, single-center cohort study included 39 post-menopausal women with osteoporosis experiencing either MOFs or decrease in bone mineral density during long-term treatment with anti-resorptive drugs. Eighteen received romosozumab either 6 months (Group A) or 3 months (Group B) after their last denosumab dose, while 21 women switched from bisphosphonates to romosozumab and were enrolled as controls (Group C). Serum C-terminal telopeptide of type I collagen (CTX) levels were measured at baseline, 3 and 6 months.</p><p><strong>Results: </strong>All women of group A and 4 out of 8 women of group B showed a clinically significant increase of CTX values (i.e., change above the least significant change) (p = 0.023), which occurred earlier in group A as compared to group B. Moreover, 9/10 women of group A and 2/8 women of group B achieved values above the mean of reference range for pre-menopausal women (p = 0.013). In group C, serum CTX values did not change significantly during the follow-up. Two women in Group A experienced MOFs during the follow-up.</p><p><strong>Conclusions: </strong>Early romosozumab administration after denosumab withdrawal may control bone turnover rebound and possibly prevent incidence of fractures in post-menopausal osteoporosis.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"1249-1256"},"PeriodicalIF":5.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049335/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143069010","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":"The paradoxical GH response at OGTT does not predict Pasireotide efficacy but matters for glucose metabolism.","authors":"G Occhi, G Voltan, S Chiloiro, A Bianchi, P Maffei, F Dassie, G Mantovani, G Del Sindaco, D Ferone, F Gatto, M Losa, S Cannavò, C Scaroni, F Ceccato","doi":"10.1007/s40618-025-02534-3","DOIUrl":"10.1007/s40618-025-02534-3","url":null,"abstract":"<p><strong>Purpose: </strong>A paradoxical increase in GH after oral glucose load (GH-Par) characterizes about one-third of acromegaly patients and is associated with a better response to first-generation somatostatin receptor ligands (fg-SRLs). Pasireotide is typically considered as a second-/third-line treatment. Here, we investigated the predictive role of GH-Par in pasireotide response and adverse event development.</p><p><strong>Methods: </strong>we collected a multicenter Italian retrospective cohort of 59 patients treated with pasireotide for at least 3 months, all having GH profile from OGTT. IGF-1 normalization or at least 30% reduction at the last follow-up visit defined a responder patient.</p><p><strong>Results: </strong>Considering the entire cohort, median IGF-1 levels before pasireotide (available in 57 patients) were 1.38 times the upper limit of normal (ULN) in patients with large (median size 18 mm) and invasive (82%) adenomas after failure of fg-SRL treatment. After a 40-month median treatment, pasireotide effectively reduced IGF-1 ULN levels in 41 patients, 37 of whom achieving normalization, and 4 with a ≥ 30% reduction. Thirteen patients were classified as GH-Par. The median pasireotide duration, dosage, and efficacy (9/12 responder in the GH-Par group and 32/45 in the GH-NPar) were similar between groups. However, the occurrence of new-onset or worsening glucose metabolism alterations (GMAs) after pasireotide was more frequent in GH-NPar (from 37 to 80%; p < 0.001) compared to GH-Par patients (from 69 to 76%), likely due to the higher prevalence of pre-existing GMAs in the GH-Par group before starting pasireotide (p = 0.038).</p><p><strong>Conclusions: </strong>The GH-Par does not predict the response to pasireotide in acromegaly but can predict a worse metabolic profile.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"1173-1183"},"PeriodicalIF":5.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049373/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014483","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":"Influence of androgen receptor on bone health in transgender adults: insights from the COMET study.","authors":"Chiara Ceolin, Alberto Scala, Maria Santa Rocca, Bianca Scagnet, Massimiliano Marton, Cristina Simonato, Chiara Ziliotto, Marina De Rui, Valentina Camozzi, Sandro Giannini, Daniela Basso, Giulia Musso, Alberto Ferlin, Giuseppe Sergi, Andrea Garolla","doi":"10.1007/s40618-024-02522-z","DOIUrl":"10.1007/s40618-024-02522-z","url":null,"abstract":"<p><strong>Purpose: </strong>Previous studies show that transgender and gender-diverse (TGD) individuals, especially those assigned male at birth (AMAB), often have low bone mineral density (BMD) before beginning gender-affirming hormone therapy (GAHT). The reasons for this are not fully understood, and the potential role of androgen receptor (AR) polymorphisms - known to affect bone density in the general population - has not been explored. This study aims to assess the impact of AR polymorphisms on bone health in the TGD population.</p><p><strong>Methods: </strong>This is an observational study involving 135 TGD and 107 cisgender participants. Collected data included hormonal profiles and phospho-calcium metabolism, bone geometry and density (Dual Energy X-ray Absorptiometry and peripheral Quantitative Computed Tomography). For the genetic study related to the AR, genomic DNA was extracted from peripheral blood leukocytes.</p><p><strong>Results: </strong>TGD individuals had lower BMD values compared to their cisgender peers. In a subgroup of 129 individuals (86 TGD and 43 cisgender), we assessed the length of the polymorphic tracts of the AR gene and observed no differences between the groups. AR polymorphisms showed significant correlations only with cortical BMD in both TGD and cisgender assigned females at birth (AFAB) individuals, and negative correlations with trabecular BMD in both cisgender men and women.</p><p><strong>Conclusions: </strong>Our study suggests that AR polymorphisms do not play a significant role in the low BMD values observed in TGD individuals at baseline. Further research is necessary to better understand the impact of factors such as lifestyle on the bone health of TGD individuals.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"1237-1248"},"PeriodicalIF":5.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142923479","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":"Correction: Long noncoding RNA FAM111A-DT promotes aggressiveness of papillary thyroid cancer via activating NF-κB signaling.","authors":"Junxin Chen, Yue Chen, Rong Huang, Pengyuan Zhang, Zijun Huo, Yanbing Li, Haipeng Xiao, Hongyu Guan, Hai Li","doi":"10.1007/s40618-025-02538-z","DOIUrl":"10.1007/s40618-025-02538-z","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"1137"},"PeriodicalIF":5.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143053986","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":"ccfDNA analysis for the classification of adrenocortical adenomas.","authors":"Mengjie Xu, David S Tourigny, Juliane Lippert, Ana Crastin, Silke Appenzeller, Miriam Asia, Oskar Podstawka, Gabrielle Smith, Yasir S Elhassan, Kassiani Skordilis, Alessandro Prete, Cristina L Ronchi","doi":"10.1007/s40618-025-02540-5","DOIUrl":"10.1007/s40618-025-02540-5","url":null,"abstract":"<p><strong>Background: </strong>Somatic alterations are commonly observed in adrenocortical adenomas including cortisol-producing (CPA) [overt Cushing syndrome (CS) or mild autonomous cortisol secretion (MACS)], aldosterone-producing (APA), and non-functioning (NFAT) tumors. We tested whether somatic variants could be detected in circulating cell-free DNA (ccfDNA) from patients with adenomas and potentially contribute to management strategies.</p><p><strong>Materials and methods: </strong>We investigated 44 patients (17 CPA-MACS, 9 CPA-CS, 12 APA, and 6 NFAT). 23 healthy subjects (HS) served as controls. ccfDNA was extracted from blood samples and quantified with fluorimeter. Tumor DNA (T-DNA) was isolated from paraffin embedded tissue in 17/44 cases. Matched ccfDNA/T-DNA were sequenced using a customized panel including 32 genes. Leucocyte DNA was used to filter out germline variants.</p><p><strong>Results: </strong>Patients with adenomas had higher total ccfDNA concentrations than HS [median 0.12 (IQR 0.05-0.19) vs. 0.05 (0.00-0.08) ng/µl, P < 0.001], with CPA-CS showing the highest ccfDNA levels [0.18 (0.05-0.47) ng/µl]. Within T-DNA, somatic variants were identified in 53% of adenomas: PRKACA in 2/7 CPA-CS, CTNNB1 in 3/5 CPA-MACS and 1/7 CPA-CS, KCNJ5 in 2/5 APA and CACNA1D in 1/5 APA. Somatic mutations were not detected in any of the investigated ccfDNA samples.</p><p><strong>Conclusions: </strong>Total ccfDNA concentrations are higher in patients with CPA-CS. Despite the presence of somatic variants in half of tumor samples, we did not detect any at ccfDNA level. Therefore, this approach appears ineffective for pre-operative detection of genetic alterations.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"1207-1216"},"PeriodicalIF":5.4,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12049379/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143076002","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}