Journal of Endocrinological Investigation最新文献

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NLRC5 p.Pro191Leu as a genetic susceptibility factor in anti-PIT-1 hypophysitis. NLRC5 p.Pro191Leu作为抗pit -1垂体炎的遗传易感性因子。
IF 3.5 2区 医学
Journal of Endocrinological Investigation Pub Date : 2026-09-01 Epub Date: 2026-05-26 DOI: 10.1007/s40618-026-02926-z
Shin Urai, Hironori Bando, Masaaki Yamamoto, Genzo Iguchi, Yutaka Takahashi
{"title":"NLRC5 p.Pro191Leu as a genetic susceptibility factor in anti-PIT-1 hypophysitis.","authors":"Shin Urai, Hironori Bando, Masaaki Yamamoto, Genzo Iguchi, Yutaka Takahashi","doi":"10.1007/s40618-026-02926-z","DOIUrl":"10.1007/s40618-026-02926-z","url":null,"abstract":"<p><strong>Purpose: </strong>Anti-PIT-1 hypophysitis is a rare T cell-mediated autoimmune pituitary disorder presenting as a paraneoplastic syndrome or after immune checkpoint inhibitor (ICI) therapy, and its predominance in Japan suggests an underlying genetic predisposition. The NLR family CARD domain containing 5 (NLRC5) encodes a key transcriptional regulator of major histocompatibility complex (MHC) class I, and its p.Pro191Leu missense variant is associated with ICI-related endocrinopathies and enhanced interferon-γ responses. Therefore, we examined whether NLRC5 p.Pro191Leu is enriched in anti-PIT-1 hypophysitis.</p><p><strong>Methods: </strong>We genotyped the NLRC5 p.Pro191Leu variant (c.572 C > T) in seven Japanese individuals with anti-PIT-1 hypophysitis for whom genomic DNA was available. The carrier frequency observed in this cohort was compared with ancestry-matched expectations from the Tohoku Medical Megabank 61KJPN Japanese reference panel using a prespecified one-sided exact binomial test. Sensitivity analyses included Mid-P adjustment, risk differences, and risk ratios.</p><p><strong>Results: </strong>Among seven genotyped Japanese individuals with anti-PIT-1 hypophysitis, five (71.4%) were carriers, exceeding the expected ancestry-matched frequency from the Japanese reference panel (expected carrier frequency 37.7%; exact p = 0.076; mid-P = 0.045). The effect sizes were risk difference + 0.337 and risk ratio 1.89.</p><p><strong>Conclusion: </strong>This study provides suggestive evidence that the NLRC5 p.Pro191Leu variant may confer genetic susceptibility to anti-PIT-1 hypophysitis in the Japanese population, based on its enrichment relative to ancestry-matched reference panels. These findings, together with NLRC5's role as the master regulator of MHC class I expression, propose a novel and testable pathogenic model.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"2571-2576"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13498477/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148036604","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}
引用次数: 0
Building the adult growth hormone deficiency data mart: a Real-World model of AI-driven clinical data extraction in a single Italian center. 构建成人生长激素缺乏症数据集市:一个意大利中心人工智能驱动的临床数据提取的真实世界模型。
IF 3.5 2区 医学
Journal of Endocrinological Investigation Pub Date : 2026-09-01 Epub Date: 2026-05-26 DOI: 10.1007/s40618-026-02918-z
Edoardo Vergani, Chiara Iacomini, Antonella Giampietro, Domenico Milardi, Sabrina Chiloiro, Antonio Mancini, Laura De Marinis, Antonio Bianchi, Stefano Patarnello, Alfredo Pontecorvi
{"title":"Building the adult growth hormone deficiency data mart: a Real-World model of AI-driven clinical data extraction in a single Italian center.","authors":"Edoardo Vergani, Chiara Iacomini, Antonella Giampietro, Domenico Milardi, Sabrina Chiloiro, Antonio Mancini, Laura De Marinis, Antonio Bianchi, Stefano Patarnello, Alfredo Pontecorvi","doi":"10.1007/s40618-026-02918-z","DOIUrl":"10.1007/s40618-026-02918-z","url":null,"abstract":"<p><strong>Purpose: </strong>Adult Growth Hormone Deficiency (AGHD) is a complex and under-recognized condition, mainly managed in outpatient settings and characterized by fragmented and heterogeneous clinical data. Population registries provide high-quality evidence but require long timeframes and substantial resources. The aim of this study was to design and validate an artificial intelligence (AI)-driven methodology for the construction of a disease-specific AGHD Data Mart from routine clinical data within a single high-volume center, to support real-world evidence generation and future advanced analytics.</p><p><strong>Methods: </strong>A standardized Data Science framework, based on automated extraction from hospital data warehouses and electronic medical records, integrating structured data and unstructured clinical narratives through natural language processing, was implemented. AGHD patients were identified using a combination of ICD-9 codes and text-mining applied to outpatient reports. A multidisciplinary workflow ensured clinical validation of extracted data. The Data Mart described patient identification from first hospital access (T0) and included diagnostic modality, etiology, biochemical data, comorbidities, and growth hormone replacement therapy.</p><p><strong>Results: </strong>Among 210 identified patients, 188 were validated as AGHD after expert review. Diagnoses were based on dynamic testing (28.2%), panhypopituitarism with low IGF-1 (54.3%), or AI-assisted identification (17.6%). Etiology was retrieved in 87.8% of cases, with post-surgical causes being the most frequent. 37.8% of patients were receiving rhGH therapy. Specific trends for IGF-1 values for single patients were described.</p><p><strong>Conclusion: </strong>This study represents the first AI-driven AGHD Data Mart and demonstrates the feasibility of constructing the Data Mart from routine clinical data. This approach offers a complementary framework for structured RWD extraction and may support future longitudinal analyses and AI-based clinical support in AGHD.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"2277-2290"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13498617/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148036919","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}
引用次数: 0
From genetic diagnosis to healthy live births: implementing an integrated PGT-M pathway for 21-hydroxylase deficiency. 从基因诊断到健康活产:实施21-羟化酶缺乏症的综合PGT-M途径
IF 3.5 2区 医学
Journal of Endocrinological Investigation Pub Date : 2026-09-01 Epub Date: 2026-05-07 DOI: 10.1007/s40618-026-02912-5
Xinlian Chen, Cuiting Peng, Han Chen, Hong Yang, Xu Zhao, Ting Hu, He Wang, Shanling Liu, Jun Ren
{"title":"From genetic diagnosis to healthy live births: implementing an integrated PGT-M pathway for 21-hydroxylase deficiency.","authors":"Xinlian Chen, Cuiting Peng, Han Chen, Hong Yang, Xu Zhao, Ting Hu, He Wang, Shanling Liu, Jun Ren","doi":"10.1007/s40618-026-02912-5","DOIUrl":"10.1007/s40618-026-02912-5","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to assess the clinical efficacy of a comprehensive reproductive management pathway integrating genetic diagnosis, preimplantation genetic testing for monogenic disorders and aneuploid (PGT-M & PGT-A) and prenatal diagnosis for families affected by CYP21A2 variant related 21-hydroxylase deficiency (21-OHD).</p><p><strong>Methods: </strong>We performed a retrospective analysis of three families affected by 21-OHD. Definitive genetic diagnosis of the CYP21A2 locus was established using Multiplex Ligation-dependent Probe Amplification (MLPA) and Sanger sequencing. In parallel, whole-exome sequencing (WES) was performed to rule out other causes of congenital adrenal hyperplasia(CAH). The Asian Screening Array (ASA) was employed for PGT-M linkage analysis, while next-generation sequencing (NGS) was used for PGT-A. Prenatal diagnosis was performed to validate the PGT-M and PGT-A results.</p><p><strong>Results: </strong>Pathogenic CYP21A2 variants were confirmed in all families. PGT-M enabled all couples to obtain transferable embryos, which were either genetically normal or carriers. Embryo transfer resulted in two clinical pregnancies and one miscarriage. Prenatal diagnosis in the two ongoing pregnancies showed complete concordance with the PGT-M profiles. Both pregnancies resulted in the delivery of healthy offspring.</p><p><strong>Conclusion: </strong>An integrated pathway combining genetic diagnosis, PGT-M, and prenatal diagnosis is a feasible and effective strategy for families with CYP21A2 variant related 21-OHD. This real-world application suggests the potential clinical utility of this multidisciplinary approach. Nevertheless, the conclusions should be interpreted with caution due to the small cohort size, and further studies with larger samples are required to confirm the efficacy and reproducibility of this integrated strategy.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"2351-2360"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147844918","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}
引用次数: 0
The impact of type 2 diabetes on male obesity-associated secondary hypogonadism patients undergoing sleeve gastrectomy. 2型糖尿病对行袖胃切除术的男性肥胖相关继发性性腺功能减退的影响。
IF 3.5 2区 医学
Journal of Endocrinological Investigation Pub Date : 2026-09-01 Epub Date: 2026-05-22 DOI: 10.1007/s40618-026-02922-3
Yian Zhao, Chong Cao, Rong Hua, Xiaozhuo Tan, Yuxiao Chu, Mengcheng He, Xinyu Yao, Bo Xu, Qiwei Shen, Xiaojian Fu, Qiyuan Yao, Yikai Shao
{"title":"The impact of type 2 diabetes on male obesity-associated secondary hypogonadism patients undergoing sleeve gastrectomy.","authors":"Yian Zhao, Chong Cao, Rong Hua, Xiaozhuo Tan, Yuxiao Chu, Mengcheng He, Xinyu Yao, Bo Xu, Qiwei Shen, Xiaojian Fu, Qiyuan Yao, Yikai Shao","doi":"10.1007/s40618-026-02922-3","DOIUrl":"10.1007/s40618-026-02922-3","url":null,"abstract":"<p><strong>Purpose: </strong>Type 2 diabetes mellitus (T2DM) frequently coexists with male obesity-associated secondary hypogonadism (MOSH). This study aims to determine the impacts of T2DM on both baseline features and postoperative outcomes after metabolic bariatric surgery in MOSH patients.</p><p><strong>Methods: </strong>In this retrospective, two-arm cohort study, patients with MOSH undergoing laparoscopic sleeve gastrectomy (LSG) between January 2021 and June 2025 were stratified by T2DM status and matched 1:1 by age, yielding 174 patients per group. Weight loss, metabolic parameters and sex hormones were assessed at baseline and 12 months post-LSG.</p><p><strong>Results: </strong>Preoperatively, the T2DM group exhibited significantly lower levels of total testosterone (TT) (6.19 vs. 7.13 nmol/L, P < 0.001), free testosterone (FT) (0.16 vs. 0.18 nmol/L, P < 0.05) and bioavailable testosterone (BT) (3.88 vs. 4.27 nmol/L, P < 0.01). Postoperatively, two groups achieved similar weight loss and MOSH remission rates. While TT/FT rose markedly and to similar levels in both groups at 12 months post-LSG (TT: 16.67 vs. 17.09 nmol/L, P = 0.251; FT: 0.34 vs. 0.36 nmol/L, P = 0.195), the T2DM group exhibited persistently lower testosterone bioavailability (BT: 8.28 vs. 8.91 nmol/L, P = 0.013).</p><p><strong>Conclusion: </strong>T2DM exacerbates the androgen deficiency in MOSH. Although LSG produces substantial and comparable weight loss, glycemic control, and rises in testosterone across groups, patients with T2DM show incomplete recovery of testosterone bioavailability post-LSG, underscoring the need for targeted postoperative monitoring of androgen bioavailability in this population.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"2533-2543"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147989631","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}
引用次数: 0
Gut microbiota dysbiosis and short-chain fatty acid alterations in pediatric new-onset type 1 diabetes with ketoacidosis. 儿童新发1型糖尿病合并酮症酸中毒的肠道菌群失调和短链脂肪酸改变
IF 3.5 2区 医学
Journal of Endocrinological Investigation Pub Date : 2026-09-01 Epub Date: 2026-06-25 DOI: 10.1007/s40618-026-02932-1
Yaru Liu, Hu Lin, Mingqiang Zhu, Xuefeng Chen, Zhu Yu, Dandan Peng, Guanping Dong, Yan Ni, Junfen Fu
{"title":"Gut microbiota dysbiosis and short-chain fatty acid alterations in pediatric new-onset type 1 diabetes with ketoacidosis.","authors":"Yaru Liu, Hu Lin, Mingqiang Zhu, Xuefeng Chen, Zhu Yu, Dandan Peng, Guanping Dong, Yan Ni, Junfen Fu","doi":"10.1007/s40618-026-02932-1","DOIUrl":"10.1007/s40618-026-02932-1","url":null,"abstract":"<p><strong>Purpose: </strong>Diabetic ketoacidosis (DKA) stands as the most common acute hyperglycaemic complication in children with type 1 diabetes (T1D) and remains associated with considerable morbidity and mortality. Although gut dysbiosis has been reported in newly diagnosed T1D, the gut microbiota and microbial metabolites during DKA onset remain poorly characterized.</p><p><strong>Methods: </strong>Shotgun metagenomic sequencing was performed on fecal samples from 96 newly diagnosed T1D children, including 32 presenting with DKA upon admission. Short-chain fatty acids (SCFAs) were quantified using gas chromatography/mass spectrometry (GC/MS). Comparative and correlation analyses were conducted to explore differences in gut microbial composition, SCFA levels, and their association with clinical indicators of DKA severity.</p><p><strong>Results: </strong>Children with DKA exhibited distinct gut microbial compositions, with marked β-diversity separation from non-DKA individuals. The DKA group was characterized by an enrichment of potential pathogens and a significant depletion of SCFA-producing genera, including Anaerobutyricum, Dialister, Ruminococcus, Roseburia, Dorea, and Butyricicoccus. Correspondingly, fecal SCFA levels were significantly reduced in the DKA group. Moreover, SCFAs and their producing bacteria were strongly correlated with clinical indices of DKA severity. Mediation analysis suggested that reductions in SCFAs, particularly propionic acid and butyric acid, were associated with metabolic alterations linking SCFA-producing bacteria to DKA.</p><p><strong>Conclusion: </strong>This study provides a comprehensive characterization of gut microbiota and SCFA alterations in T1D children at DKA onset. The depletion of SCFA-producing bacteria and their metabolites reflects metabolic disturbances associated with DKA, and highlights SCFAs and their producers as candidate metabolic features warranting further validation as biomarkers and therapeutic targets.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"2555-2569"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148320157","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}
引用次数: 0
fNIRS estimates prefrontal cortex activation following glucose load in youths with obesity. fNIRS估计肥胖青少年葡萄糖负荷后前额叶皮层的激活。
IF 3.5 2区 医学
Journal of Endocrinological Investigation Pub Date : 2026-09-01 Epub Date: 2026-05-26 DOI: 10.1007/s40618-026-02911-6
Gabriele Scozia, Deny Menghini, Stefano Lasaponara, Alessia Aureli, Chiara Carducci, Valentina Quaresima, Roberto Isabella, Fabrizio Doricchi, Stefano Vicari, Stefano Cianfarani, Danilo Fintini, Melania Manco
{"title":"fNIRS estimates prefrontal cortex activation following glucose load in youths with obesity.","authors":"Gabriele Scozia, Deny Menghini, Stefano Lasaponara, Alessia Aureli, Chiara Carducci, Valentina Quaresima, Roberto Isabella, Fabrizio Doricchi, Stefano Vicari, Stefano Cianfarani, Danilo Fintini, Melania Manco","doi":"10.1007/s40618-026-02911-6","DOIUrl":"10.1007/s40618-026-02911-6","url":null,"abstract":"<p><strong>Purpose: </strong>The prefrontal cortex [PFC] is crucial in controlling food-related impulses. Functional near-infrared spectroscopy [fNIRS] represents a wearable functional neuroimaging technology for measuring PFC activation in real life. Aims of the study were to examine PFC activation in fasting conditions and after an oral glucose tolerance test [OGTT] in resting- state [R], cognitive tasks [Ts] conditions and explore the PFC activation relationship with insulin sensitivity index [ISI] in youths with obesity.</p><p><strong>Methods: </strong>28 patients' cross-sectional study [age 7-15 y]. ISI was quantified by Matsuda's Index and PFC activation as oxygenated [O<sub>2</sub>Hb, mol/L] and total [tHb, mol/L] hemoglobin concentration changes, in fasting and during the first 60 min of the OGTT; in resting-state condition and during cognitive tasks [Ts: Verbal Fluency, Digit Span, Non-Verbal Stroop] administered before [Fasting-Ts], and 15 min after OGTT [OGTT-Ts]. 15 min OGTT-R was divided into 5 time periods [P1-P2-P3-P4-P5], and cognitive tasks [OGTT-Ts] were then administered again.</p><p><strong>Results: </strong>Dorsolateral PFC [DLPFC] and right frontal pole were over-activated in OGTT compared to the fasting state. Significant differences [p < 0.005, false discovery rate corrected] were observed: P2 [O<sub>2</sub>Hb Left DLPFC Fasting-R: 1.47<sub>*</sub>10<sup>-6</sup> vs OGTT-R: 4.13<sub>*</sub>10<sup>-6</sup> mol/L], P3 [tHb Right DLPFC Fasting-R: 1.15<sub>*</sub>10<sup>-6</sup> vs OGTT-R: 3.36<sub>*</sub>10<sup>-6</sup> mol/L], and P5 [ O<sub>2</sub>Hb Left DLPFC Fasting-R: 1.47<sub>*</sub>10<sup>-6</sup> vs OGTT-R: 4.34<sub>*</sub>10<sup>-6</sup> mol/L, tHb Right DLPFC Fasting-R: 1.15<sub>*</sub>10<sup>-6</sup> vs OGTT-R: 3.07<sub>*</sub>10<sup>-6</sup> mol/L]. The change of left DLPFC activity correlated significantly with ISI [r = 0.61, p < 0.001].</p><p><strong>Conclusion: </strong>fNIRS enabled the non-invasive examination of the PFC hemodynamic response associated with participants' insulin sensitivity in an ecological context. Bilateral DLPFC activation following OGTT in youths with obesity was associated with peripheral ISI. This association suggests that peripheral insulin sensitivity might reflect the PFC's ability to control food-related behaviours.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"2497-2507"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13498646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148036494","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}
引用次数: 0
Changes overtime in primary and secondary empty sella: a comparative real-world study. 主要和次要空塞拉随时间的变化:一个比较现实世界的研究。
IF 3.5 2区 医学
Journal of Endocrinological Investigation Pub Date : 2026-09-01 Epub Date: 2026-06-08 DOI: 10.1007/s40618-026-02931-2
Nicolò Bacchi, Francesca Paglia, Vanessa Caccin, Bruno Madeo, Gianluca Margiotta, Maria Chiara Decaroli, Maria Laura Monzani, Chiara Diazzi, Sara De Vincentis, Vincenzo Rochira
{"title":"Changes overtime in primary and secondary empty sella: a comparative real-world study.","authors":"Nicolò Bacchi, Francesca Paglia, Vanessa Caccin, Bruno Madeo, Gianluca Margiotta, Maria Chiara Decaroli, Maria Laura Monzani, Chiara Diazzi, Sara De Vincentis, Vincenzo Rochira","doi":"10.1007/s40618-026-02931-2","DOIUrl":"10.1007/s40618-026-02931-2","url":null,"abstract":"<p><strong>Purpose: </strong>Primary (PES) and Secondary (SES) Empty Sella (ES) show similar radiological appearances, but they may be associated with variable degrees of pituitary dysfunction. Long-term comparative data are limited. This study aimed to compare baseline and longitudinal endocrine outcomes of PES and SES in a large single-center cohort.</p><p><strong>Methods: </strong>We conducted a retrospective, longitudinal study including adults with ES followed at a tertiary endocrinology center between 2007 and 2025. ES was classified as PES or SES based on clinical history. Clinical and neuroradiological features, comorbidities, and pituitary hormonal assessments were collected at baseline and during follow-up.</p><p><strong>Results: </strong>A total of 258 participants were included (64.3% women; median age 51.5 years; median follow-up 58.5 months). PES was more prevalent than SES (61.6% vs. 38.4%). At baseline, 41.1% of patients had at least one pituitary hormone deficiency, significantly more frequent in SES than PES (62.6% vs. 27.7%), with gonadotropic deficiency the most common alteration. During follow-up, pituitary function remained stable in most PES patients (83.3%), with a very low incidence of new deficiencies. In contrast, SES showed a significantly higher risk of developing new corticotropic, thyrotropic, and gonadotropic deficiencies. Arginine vasopressin deficiency occurred exclusively in SES.</p><p><strong>Conclusion: </strong>In this large longitudinal cohort, PES and SES showed distinct clinical and endocrine evolution. While PES was generally stable course over time, SES was associated with a higher risk of progressive pituitary dysfunction. These findings support systematic baseline endocrine evaluation in all ES patients and a tailored follow-up strategy, with closer surveillance for SES.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"2255-2265"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13498630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148200786","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}
引用次数: 0
Changes in cardiometabolic risk factors in transmasculine individuals over 10 years of Gender-Affirming Hormone Therapy. 变性人接受性别确认激素治疗10年期间心脏代谢危险因素的变化
IF 3.5 2区 医学
Journal of Endocrinological Investigation Pub Date : 2026-09-01 Epub Date: 2026-05-22 DOI: 10.1007/s40618-026-02906-3
Martino Azzi, Alessandra Lami, Anita Dones, Arrigo Francesco Giuseppe Cicero, Arianna Siconolfi, Renato Seracchioli, Maria Cristina Meriggiola
{"title":"Changes in cardiometabolic risk factors in transmasculine individuals over 10 years of Gender-Affirming Hormone Therapy.","authors":"Martino Azzi, Alessandra Lami, Anita Dones, Arrigo Francesco Giuseppe Cicero, Arianna Siconolfi, Renato Seracchioli, Maria Cristina Meriggiola","doi":"10.1007/s40618-026-02906-3","DOIUrl":"10.1007/s40618-026-02906-3","url":null,"abstract":"<p><strong>Purpose: </strong>to describe 10-year changes in health measures and cardiovascular risk among transmasculine adults on testosterone-based Gender-Affirming Hormone Therapy.</p><p><strong>Methods: </strong>this is a single-centre, longitudinal cohort study of transmasculine adults who began Gender-Affirming Hormone Therapy and were followed-up for a total of 10 years according to standard clinical practice, which includes yearly visits with complete physical examinations, blood tests, and assessment of body composition. For participants aged 35 years or older, we estimated the 10-year cardiovascular risk, and then compared it with age-matched people from the general population.</p><p><strong>Results: </strong>57 participants completed 10 years of follow-up. Nearly half smoked and few were physically active. Haemoglobin and haematocrit rose early and then stabilised within usual ranges; very high values were uncommon. Fasting glucose, insulin, and blood pressure did not change meaningfully. The lipid profile worsened: LDL, total cholesterol and triglycerides increased, and HDL decreased throughout the study period. Weight, body mass index, waist circumference, and waist-to-hip ratio increased. Body composition showed higher lean mass and trunk fat, with a shift toward android fat distribution. No major cardiovascular events were recorded. One participant developed atrial fibrillation. Metabolic syndrome by female criteria became more frequent. cardiovascular risk was higher than cisgender women but similar to cisgender men at ages 35-44; at ages 45-54 it was lower than cisgender men.</p><p><strong>Conclusions: </strong>Over 10 years, testosterone-based Gender-Affirming Hormone Therapy is linked to less favorable lipid profiles and body composition patterns, supporting constant monitoring, risk-factor treatment, and lifestyle support.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"2361-2374"},"PeriodicalIF":3.5,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13498505/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147989632","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}
引用次数: 0
A possible depiction of Cushing syndrome in Ambrogio Lorenzetti's Allegory Of Good Government. 安布罗吉奥·洛伦泽蒂的《好政府的寓言》中对库欣综合症的可能描述。
IF 3.5 2区 医学
Journal of Endocrinological Investigation Pub Date : 2026-09-01 DOI: 10.1007/s40618-026-03015-x
Kiyomi Horiuchi, Takao Horiuchi
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引用次数: 0
Non-incidentally detected adrenal mass: a paradigm shift beyond incidentaloma? 非偶然发现的肾上腺肿块:超越偶然瘤的范式转变?
IF 3.5 2区 医学
Journal of Endocrinological Investigation Pub Date : 2026-09-01 Epub Date: 2026-05-06 DOI: 10.1007/s40618-026-02914-3
Guido Di Dalmazi, Filippo Ceccato
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引用次数: 0
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