Journal of Endocrinological Investigation最新文献

{"title":"\"Who and how to screen for endogenous hypercortisolism among young women presenting with clinical hyperandrogenism and/or menstrual abnormalities \".","authors":"Francesco Ferraù, Ylenia Alessi, Federica Nista, Anna Roux, Diego Ferone, Emanuela Arvat","doi":"10.1007/s40618-025-02537-0","DOIUrl":"10.1007/s40618-025-02537-0","url":null,"abstract":"<p><p>Endogenous Cushing's syndrome (CS) is rare, with an incidence of 0.7-2.4 per million population per year according to population-based studies. However, evaluation of patients presenting disorders potentially related to cortisol excess, and therefore with a 'high risk of clinical suspicion' profile, could bring out several unrecognized cases. CS represents one of the most challenging endocrine diseases, with clinical features overlapping with those of common conditions affecting general population, invariably resulting in potential mis- or delayed diagnosis with negative consequences in terms of morbidity and mortality. CS is remarkably prevalent among young females, variably presenting with menstrual irregularities and/or signs and symptoms of hyperandrogenism. Herein we briefly reviewed literature on prevalence and clinical impact of menses abnormalities, acne and hirsutism -also coexisting in the context of a polycystic ovary syndrome- in CS, aiming at clarifying if, when and how to screen for hypercortisolism young women with these disorders.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"83-89"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12031912/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143469717","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":"A simplified four-tier classification for thyroid core needle biopsy.","authors":"M Paja, J L Del Cura, R Zabala, I Korta, Mª T Gutiérrez, A Expósito, A Ugalde","doi":"10.1007/s40618-024-02508-x","DOIUrl":"10.1007/s40618-024-02508-x","url":null,"abstract":"<p><strong>Purpose: </strong>To propose a simplified histological classification for core-needle biopsy (CNB) of thyroid nodules with four diagnostic categories (DC) and provide the risk of malignancy (ROM) and the expected incidence for each DC. There is no uniform scheme for categorizing CNB specimens, except for a Korean diagnostic classification similar to the Bethesda system for FNAC.</p><p><strong>Methods: </strong>Data from a single institution using CNB as a routine diagnostic tool for thyroid nodules. Biopsies were classified as non-diagnostic, benign, follicular tumour (FT) or malignant. The frequency of each DC and the correlation with surgical pathology of nodules undergoing surgery after CNB were evaluated.</p><p><strong>Results: </strong>Of 6284 CNBs on 5782 nodules [195 (3.1%) non-diagnostic, 5043 (80.3%) benign, 435 (6.9%) FT and 611 (9.7%) malignant], 1914 nodules (33.1%) underwent surgery after 2016 CNBs: 48 non-diagnostic, 1035 benign, 355 FT and 578 malignant. Malignancy was diagnosed after surgery in 11 non-diagnostic (ROM: 22.9%), 23 benign (ROM: 2.2%), 44 FT (ROM: 12.4%, 11.5% excluding low-grade malignancy) and 568 malignant CNBs (ROM: 98.3%, 93.8% excluding low-grade malignancy). Sensitivity and positive predictive value for malignancy of FT or malignant CNB were 94.7% and 65.6%, and for thyroid neoplasm (adenoma or carcinoma) were 93.2% and 92.6%.</p><p><strong>Conclusions: </strong>Our diagnostic classification for CNB of thyroid nodules has a high diagnostic accuracy with a low rate of indeterminate categories. This classification, applied in a Western practice, shows a low ROM for nodules classified as follicular tumours, which could be improved with immunohistochemical studies.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"895-904"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689345","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":"Who and how to screen for endogenous hypercortisolism in type 2 diabetes mellitus or obesity.","authors":"Valentina Guarnotta, Carla Giordano, Giuseppe Reimondo","doi":"10.1007/s40618-024-02455-7","DOIUrl":"10.1007/s40618-024-02455-7","url":null,"abstract":"<p><strong>Purpose: </strong>The current review aims to summarize and discuss the prevalence of confirmed hypercortisolism in patients with diabetes mellitus or obesity, analysing the screening tests used and their accuracy, in order to better identify whether patients with diabetes mellitus and obesity should be screened for Cushing's syndrome (CS) and how.</p><p><strong>Methods: </strong>A narrative review was performed including publications focusing on the current knowledge on prevalence of confirmed hypercortisolism in patients with type 2 diabetes mellitus (T2DM) or obesity and on screening tests used to detect CS.</p><p><strong>Results: </strong>The studies reviewed suggest that the prevalence of CS in patients with T2DM is variable, ranging from 0.6 to 9.3%. The most used screening test is the overnight cortisol after 1 mg of dexamethasone suppression test (DST), with a false positive rate ranging from 3.7 to 21%. The prevalence of CS among obese patients is generally about 1%, except for two studies which reported higher prevalence. For obese patients, 1 mg DST and late-night salivary cortisol are the most accurate screening tests for CS.</p><p><strong>Conclusions: </strong>Clinical expertise remains the mainstay to identify which subjects should be screened for CS. The evaluation of the clinical stigmata of CS and the combination with clinical comorbidities typical of CS are the stronger predictors of CS. In addition, we could hypothesize that in patients with T2DM, overnight 1 mg DST is the more accurate screening test for CS. By contrast, in patients with obesity both LNSC and overnight 1 mg DST could be equally used for the screening of hypercortisolism.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"47-59"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12031983/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142330492","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":"Aggressive variants of papillary thyroid carcinoma: characteristics, influencing factors, and effectiveness of radioiodine therapy.","authors":"Yuqi Deng, Liqin Pan, Yifan Xu, Yifei Duan, Erhao Chen, Yumei Luo, Huijuan Feng, Wei Ouyang","doi":"10.1007/s40618-024-02507-y","DOIUrl":"10.1007/s40618-024-02507-y","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the pathological characteristics of aggressive variants of papillary thyroid carcinoma (PTC) and evaluate the efficacy of radioiodine (RAI) therapy for these variants.</p><p><strong>Methods: </strong>We analysed 129 patients with aggressive variants of PTC and compared them to those of 4460 patients with non-aggressive variants. And we examined the efficacy of RAI therapy in 70 eligible patients with aggressive variants of PTC and 2530 eligible patients with non-aggressive variants of PTC.</p><p><strong>Results: </strong>Aggressive and non-aggressive variants of PTC demonstrated a greater degree of variability in terms of age, multifocality, capsular invasion, vascular invasion, extrathyroidal invasion, lymph node metastases, disease stage, risk stratification, N stage, comorbid with Hashimoto thyroiditis (HT) and comorbid with nodular goiter (NG). Propensity score matching method showed poor efficacy of RAI treatment in patients with aggressive variants of PTC compared with non-aggressive variants. Multifactorial analysis showed that comorbid NG was an independent risk factor for poor effectiveness of RAI treatment for aggressive PTC variants ((hazard ratio (HR) 3.027; 95% confidence interval (CI), 1.295-7.075).</p><p><strong>Conclusion: </strong>Aggressive variants of PTC demonstrated a higher degree of aggressiveness and poor efficacy of RAI therapy compared to non-aggressive variants, especially comorbid with NG, which may require higher therapeutic 131I dosage.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"905-918"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142802716","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 to: Who and how to screen for endogenous hypercortisolism in a highrisk population: a special issue of the journal of endocrinological investigations.","authors":"Filippo Ceccato, Massimo Terzolo, Carla Scaroni","doi":"10.1007/s40618-025-02545-0","DOIUrl":"10.1007/s40618-025-02545-0","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"5"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12031867/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143544040","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":"Lack of correlation between asprosin serum levels and hyperphagic behavior in subjects with prader-Willi Syndrome.","authors":"Maria Felicia Faienza, Mariangela Chiarito, Alessia Aureli, Raffaele Buganza, Domenico Corica, Maurizio Delvecchio, Luisa De Sanctis, Danilo Fintini, Graziano Grugni, Maria Rosaria Licenziati, Simona Madeo, Enza Mozzillo, Irene Rutigliano, Giuliana Valerio","doi":"10.1007/s40618-024-02511-2","DOIUrl":"10.1007/s40618-024-02511-2","url":null,"abstract":"<p><strong>Purpose: </strong>Individuals with Prader-Willi syndrome (PWS) exhibit hyperphagic behavior, the severity of which varies throughout life. The mechanisms underlying this behavior are still unknown. Asprosin is a new discovered adipokine involved in the regulation of food intake, glucose homeostasis and energy balance. In this study we assessed asprosin serum levels in a cohort of children, adolescents and adults with PWS with the aim to correlate them with hyperphagic behavior, body mass index (BMI) and metabolic parameters, and to evaluate age-related changes.</p><p><strong>Methods: </strong>This cross-sectional study included 87 children and adolescents and 31 adults with PWS. Auxological data, fasting levels of glucose, insulin, total cholesterol, high-density lipoprotein-cholesterol (HDL-C), triglycerides (TG) and asprosin were collected, and the homeostasis model assessment for insulin resistance (HOMA-IR) was determined. The 11-item Italian version of the Hyperphagia Questionnaire (HQ) was administered to the parents/caregivers of the patients to assess hyperphagia.</p><p><strong>Results: </strong>Patients were analysed according to age (children < 10 years, adolescents between 10 and 17.9 years, adults ≥ 18 years) or BMI categories [normal weight (NW), overweight (OW), and obesity (OB)]. No significant correlations were found between asprosin levels and cardiometabolic risk factors in the whole cohort. Higher values of asprosin were found in adults compared with adolescents, as well as in the OB group compared to the NW group (p = 0.014). Hyperphagia total score and hyperphagic subdimensions were significantly lower in children compared to adults (p < 0.05). Similarly, hyperphagia total score and hyperphagic subdimensions were significantly lower in the NW group compared to the OB group. Asprosin levels were significantly higher in patients with deletion versus patients with uniparental disomy (p = 0.037). By logistic regression analysis, HQ total score and hyperphagic subdimensions were significantly associated with BMI-SDS independently of age, sex, and asprosin levels.</p><p><strong>Conclusion: </strong>In conclusion, our data demonstrated higher asprosin levels in PWS individuals with OB compared to NW, while differences by age and sex were inconsistent. The lower levels of hyperphagia, BMI-SDS, and metabolic variables in children with PWS compared to adults underline that prevention of obesity should start very early in life and should be maintained over time.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"979-986"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142786618","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":"Clinical management of indeterminate thyroid nodules needs to be revisited. New evidence for a personalized approach to the problem.","authors":"Tommaso Piticchio, S Wolde Sellasie, F D'Arrigo, F Galeano, I Barca, A Prinzi, R Le Moli, L Scappaticcio, S Amendola, L Guidobaldi, I Nardone, S Zaccaria, F Pallotti, L Uccioli, Frasca F","doi":"10.1007/s40618-024-02510-3","DOIUrl":"10.1007/s40618-024-02510-3","url":null,"abstract":"<p><strong>Purpose: </strong>Thyroid nodules diagnosed by fine needle aspiration cytology (FNAC) as TIR3A or Class III subgroup \"other types of atypia\" (indeterminate thyroid nodules - ITNs), are the only ones without a unique clinical action indicated for management. This leads to multiple FNAC repetitions (FNAC-reps) and lifelong follow-up, with huge consumption of time and resources. The aims of the study were to inquire the usefulness of repeating FNAC in ITNs and perform an evaluation of a long-term follow-up of a large cohort of ITNs.</p><p><strong>Methods: </strong>The study was conducted in two Italian high-volume tertiary centres. We selected patients who underwent the first FNAC with subsequent diagnosis of ITN in a centre involved and who then repeated it in the same institute.</p><p><strong>Results: </strong>We included 506 patients. The FNAC-rep determined the \"change in management indications\" (CMIs) in 30 cases. The binomial test showed that this proportion was not significant (p 0.36). The factors related to CMIs were age (OR = 0.97; 95%CI = 0.95-0.99; p = 0.04), margins (OR = 5.6; 95%CI = 1.7-18.1; p = 0.004), and echogenicity (hypoechoic vs. isoechoic: OR = 5.2; 95%CI = 1.87-14.5; p = 0.002| hypoechoic vs. iso-anechoic: OR = 5.9; 95%CI = 1.32-26.2; p = 0.02). Follow-up of cases without CMIs showed that 20 of 476 cases required surgery. Of these, only four were malignant and all occurred within the first 8 years of observation.</p><p><strong>Conclusions: </strong>The study demonstrated that FNAC-rep is useless for the most of cases, hence it should only be considered for young adults having nodules with suspicious characteristics. Furthermore, a 10-year follow-up for ITNs is safe enough rather than a long-life follow-up.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"885-893"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11950127/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142773885","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":"Correction: Unusual infections and thrombotic events in Cushing's syndrome.","authors":"Mattia Barbot, Martina Lazzara, Pierluigi Mazzeo, Francesca Pecori Giraldi","doi":"10.1007/s40618-024-02486-0","DOIUrl":"10.1007/s40618-024-02486-0","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"45"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12031900/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142630479","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":"Unusual infections and thrombotic events in Cushing's syndrome.","authors":"Mattia Barbot, Martina Lazzara, Pierluigi Mazzeo, Francesca Pecori Giraldi","doi":"10.1007/s40618-024-02454-8","DOIUrl":"10.1007/s40618-024-02454-8","url":null,"abstract":"<p><p>The diagnosis of Cushing's syndrome requires a high degree of suspicion, especially in patients in whom typical features are overshadowed by other ailments. These include, among others, widespread opportunistic infections or sepsis and venous or arterial thromboembolism.This Review will summarize available data on patients presenting with severe infections or thrombotic events and the best approach to diagnosis.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"35-43"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12031848/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142330490","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":"48-Year clinical experience and genetic analysis of pediatric primary hyperparathyroidism from a single center in China.","authors":"Yingyu Chen, An Song, Min Nie, Yan Jiang, Mei Li, Weibo Xia, Xunwu Meng, Ou Wang, Xiaoping Xing","doi":"10.1007/s40618-024-02504-1","DOIUrl":"10.1007/s40618-024-02504-1","url":null,"abstract":"<p><strong>Purpose: </strong>This study aims to investigate the clinical and genetic features and change of clinical spectrum of primary hyperparathyroidism (PHPT) in children and adolescents.</p><p><strong>Methods: </strong>The clinical and follow-up data of 74 pediatric patients (onset age ≤ 18 years) with PHPT during 1975-2022 were retrospectively analyzed. For comparison, patients were divided into four subgroups according to their time of diagnosis. Genetic analysis was conducted in 40 patients.</p><p><strong>Results: </strong>Pediatric PHPT cases increased largely over time [34 cases (45.9%) in 2015-2022]. The rate of asymptomatic PHPT increased by time (14.7% in 2015-2022 vs. 0% before 2015), in accordance with routine screening of serum calcium becoming a more frequent reason for clinic visit (17.6% in 2015-2022 vs. 0% before 2015). Skeletal manifestation significantly decreased in recent years (64.7% in 2015-2022 vs. 100.0% in 1975-1994, P < 0.05). Sixty-seven patients (90.5%) of the whole cohort underwent parathyroidectomy. Atypical parathyroid adenoma and parathyroid carcinoma occurred in 13.4% and 4.5% of the surgical cases, respectively. Recurrence and persistence of PHPT were observed in 17.9% of postsurgical patients. Germline rare variations (RVs) of PHPT-related genes were found in 42.5% (17/40) of all cases with genetic testing. Compared with no-variation group, the variation group had higher incidence of multiple parathyroid lesions (42.8% vs. 4.3%, P = 0.014), and lower rate of benign lesions and higher rate of recurrence and persistence.</p><p><strong>Conclusion: </strong>Milder cases of Pediatric PHPT are coming to clinical attention probably due to routine lab testing. Genetic testing is recommended for pediatric PHPT patients.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"967-978"},"PeriodicalIF":5.4,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142683208","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}