Pub Date : 2025-12-18DOI: 10.1007/s40618-025-02774-3
S T Durhan, J A Yanovski, S Ozcubukcu, T Yanik
{"title":"Effect of a partial loss of function MC3R mutation on MC3R+GHSR-1A heterodimer activity and RNF11 regulation.","authors":"S T Durhan, J A Yanovski, S Ozcubukcu, T Yanik","doi":"10.1007/s40618-025-02774-3","DOIUrl":"https://doi.org/10.1007/s40618-025-02774-3","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145776089","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}
Pub Date : 2025-12-12DOI: 10.1007/s40618-025-02768-1
Dan Yedu Quansah, Cecilia Jiménez-Sánchez, Pierre Maechler, Jardena J Puder
{"title":"Circulating 1,5-anhydroglucitol levels combined with pre-pregnancy BMI is a simple predictive marker of future glucose intolerance in women with gestational diabetes.","authors":"Dan Yedu Quansah, Cecilia Jiménez-Sánchez, Pierre Maechler, Jardena J Puder","doi":"10.1007/s40618-025-02768-1","DOIUrl":"https://doi.org/10.1007/s40618-025-02768-1","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145745487","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}
Pub Date : 2025-12-11DOI: 10.1007/s40618-025-02776-1
Natacha Germain, Elsa Lang, Clara Devin-Genteuil, Fabien Degas, Aurelia Gay, Philippe Gonzalo, Amélie Moreau, Catherine Massoubre, Bruno Estour, Jean-Philippe Klein, Bogdan Galusca
Purpose: To investigate Anti-Müllerian Hormone (AMH) levels in women with anorexia nervosa (AN) compared to individuals with constitutional thinness (CT) and healthy controls, and to evaluate the association between AMH, body mass index (BMI), and weight recovery.
Methods: This monocentric cross-sectional study included 191 women with AN, 41 with CT, and 55 controls. A subgroup of 42 patients with AN was reassessed after weight recovery. Hormonal, metabolic, and psychological parameters were analyzed. AMH was measured using a validated electrochemiluminescence immunoassay. Comparisons and correlations were performed using nonparametric tests and Pearson coefficients.
Results: Mean AMH plasma level was higher in patients with AN (30.5 ± 1.6 pmol/l) than in controls (23.3 ± 2.5 pmol/l, p = 0.0252) and CT (21.4 ± 2.7 pmol/l, p = 0.0088). AMH was positively correlated with BMI, leptin, FSH, and LH in the AN group, and inversely associated with disease duration. AMH was the lowest in extreme undernutrition state (BMI ≤ 13 kg/m²: AMH: 19.5 ± 4.4pmol/l) and the highest in moderate undernutrition state (BMI 16.5-18.5 kg/m²: AMH:35.8 ± 3.1pmol/l; p = 0.0343 vs. previous). During weight recovery, AMH remained stable overall but tended to decrease in patients who regained menstrual cycles.
Conclusions: Mean AMH is globally elevated in AN, but modulated by nutritional status, being very low in extreme undernutrition and higher during partial recovery, remaining elevated with weight normalization in patients with persistent amenorrhea. AMH might reflect the severity of undernutrition in AN, with low AMH marking the most severe forms, and relatively higher AMH indicating some preserved or recoverable reproductive function, helping the clinician in assessing reproductive prognosis in AN.
目的:将神经性厌食症(AN)女性患者的抗勒氏激素(AMH)水平与体质偏瘦(CT)和健康对照进行比较,并评价AMH与体重指数(BMI)和体重恢复之间的关系。方法:这项单中心横断面研究包括191名AN患者,41名CT患者和55名对照组。42名AN患者的亚组在体重恢复后被重新评估。分析激素、代谢和心理参数。AMH采用经验证的电化学发光免疫分析法测定。采用非参数检验和Pearson系数进行比较和相关性分析。结果:AN组AMH平均水平(30.5±1.6 pmol/l)高于对照组(23.3±2.5 pmol/l, p = 0.0252)和CT组(21.4±2.7 pmol/l, p = 0.0088)。AN组AMH与BMI、瘦素、FSH、LH呈正相关,与病程呈负相关。极度营养不良状态下AMH最低(BMI≤13 kg/m²:AMH: 19.5±4.4pmol/l),中度营养不良状态下AMH最高(BMI: 16.5 ~ 18.5 kg/m²:AMH:35.8±3.1pmol/l, p = 0.0343)。在体重恢复期间,AMH总体保持稳定,但在恢复月经周期的患者中有下降的趋势。结论:AN患者的平均AMH在全球范围内升高,但受营养状况的调节,在极度营养不良时非常低,在部分恢复时较高,在持续闭经患者体重正常化时保持升高。AMH可能反映了AN营养不良的严重程度,低AMH标志着最严重的形式,相对较高的AMH表明一些保留或恢复的生殖功能,有助于临床医生评估AN的生殖预后。
{"title":"Anti-Müllerian hormone in anorexia nervosa: a biomarker of nutritional status and reproductive phenotype.","authors":"Natacha Germain, Elsa Lang, Clara Devin-Genteuil, Fabien Degas, Aurelia Gay, Philippe Gonzalo, Amélie Moreau, Catherine Massoubre, Bruno Estour, Jean-Philippe Klein, Bogdan Galusca","doi":"10.1007/s40618-025-02776-1","DOIUrl":"https://doi.org/10.1007/s40618-025-02776-1","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate Anti-Müllerian Hormone (AMH) levels in women with anorexia nervosa (AN) compared to individuals with constitutional thinness (CT) and healthy controls, and to evaluate the association between AMH, body mass index (BMI), and weight recovery.</p><p><strong>Methods: </strong>This monocentric cross-sectional study included 191 women with AN, 41 with CT, and 55 controls. A subgroup of 42 patients with AN was reassessed after weight recovery. Hormonal, metabolic, and psychological parameters were analyzed. AMH was measured using a validated electrochemiluminescence immunoassay. Comparisons and correlations were performed using nonparametric tests and Pearson coefficients.</p><p><strong>Results: </strong>Mean AMH plasma level was higher in patients with AN (30.5 ± 1.6 pmol/l) than in controls (23.3 ± 2.5 pmol/l, p = 0.0252) and CT (21.4 ± 2.7 pmol/l, p = 0.0088). AMH was positively correlated with BMI, leptin, FSH, and LH in the AN group, and inversely associated with disease duration. AMH was the lowest in extreme undernutrition state (BMI ≤ 13 kg/m²: AMH: 19.5 ± 4.4pmol/l) and the highest in moderate undernutrition state (BMI 16.5-18.5 kg/m²: AMH:35.8 ± 3.1pmol/l; p = 0.0343 vs. previous). During weight recovery, AMH remained stable overall but tended to decrease in patients who regained menstrual cycles.</p><p><strong>Conclusions: </strong>Mean AMH is globally elevated in AN, but modulated by nutritional status, being very low in extreme undernutrition and higher during partial recovery, remaining elevated with weight normalization in patients with persistent amenorrhea. AMH might reflect the severity of undernutrition in AN, with low AMH marking the most severe forms, and relatively higher AMH indicating some preserved or recoverable reproductive function, helping the clinician in assessing reproductive prognosis in AN.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145726960","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}
Pub Date : 2025-12-11DOI: 10.1007/s40618-025-02778-z
Lina Sun, Junling Fu, Zhijing Mu, Shuangling Xiu
Background and aims: The prevalence and impact on physical function of osteosarcopenia in the Chinese population remain unclear. The purpose of this study was to assess the prevalence of osteosarcopenia and its association with physical function in the elderly population of China.
Methods and results: A total of 519 participants (327 males, 192 females; mean age: 67.2 years) elderly people were recruited. Physical performance was evaluated using the Timed Up and Go test and the Short Physical Performance Battery (SPPB). Osteoporosis was diagnosed based on the 1994 WHO criteria, while sarcopenia was defined according to the AWGS guidelines. Osteosarcopenia was diagnosed when both sarcopenia and osteoporosis were present. Among the participants, osteosarcopenia was identified in 27 (5.20%), sarcopenia-alone in 6 (1.16%), and osteoporosis-alone in 257 (49.52%). Logistic regression analysis revealed that age (OR = 1.188, 95% CI: 1.085-1.300) and insufficient exercise (< 30 min/day) (OR = 5.606, 95% CI: 1.591-19.762) were significant associated factors for osteosarcopenia. Conversely, body mass index (OR = 0.569, 95% CI: 0.440-0.736), basal metabolic rate (OR = 0.992, 95% CI: 0.989-0.996), and weekly egg consumption (OR = 0.713, 95% CI: 0.564-0.900) were negatively associated with osteosarcopenia. Regarding physical function, individuals with osteosarcopenia exhibited significantly poorer physical performance, including longer times in the five-repetition sit-to-stand test, slower TUG times, reduced handgrip strength, lower SPPB scores, and slower gait speeds (P < 0.01-P < 0.001).
Conclusion: This study highlights the prevalence of osteosarcopenia and its impact on physical function in the elderly Chinese population. It identifies key associated factors that could guide the early recognition, diagnosis, and management of osteosarcopenia in China.
背景与目的:中国人群中骨骼肌减少症的患病率及其对身体功能的影响尚不清楚。本研究的目的是评估中国老年人骨骼肌减少症的患病率及其与身体功能的关系。方法与结果:共招募519名老年人(男性327人,女性192人,平均年龄67.2岁)。使用Timed Up and Go测试和短物理性能电池(SPPB)评估物理性能。骨质疏松症的诊断依据是1994年WHO的标准,而肌肉减少症的定义依据是AWGS的指南。当骨骼肌减少和骨质疏松同时存在时,诊断为骨骼肌减少症。在参与者中,27人(5.20%)患有骨骼肌减少症,6人(1.16%)患有骨骼肌减少症,257人(49.52%)患有骨质疏松症。Logistic回归分析显示,年龄(OR = 1.188, 95% CI: 1.085-1.300)与运动不足有关。结论:本研究突出了中国老年人骨骼肌减少症的患病率及其对身体功能的影响。它确定了关键的相关因素,可以指导中国骨质减少症的早期识别、诊断和管理。
{"title":"Epidemiology and effect on physical function of osteosarcopenia in community-dwelling elderly people in Chinese.","authors":"Lina Sun, Junling Fu, Zhijing Mu, Shuangling Xiu","doi":"10.1007/s40618-025-02778-z","DOIUrl":"https://doi.org/10.1007/s40618-025-02778-z","url":null,"abstract":"<p><strong>Background and aims: </strong>The prevalence and impact on physical function of osteosarcopenia in the Chinese population remain unclear. The purpose of this study was to assess the prevalence of osteosarcopenia and its association with physical function in the elderly population of China.</p><p><strong>Methods and results: </strong>A total of 519 participants (327 males, 192 females; mean age: 67.2 years) elderly people were recruited. Physical performance was evaluated using the Timed Up and Go test and the Short Physical Performance Battery (SPPB). Osteoporosis was diagnosed based on the 1994 WHO criteria, while sarcopenia was defined according to the AWGS guidelines. Osteosarcopenia was diagnosed when both sarcopenia and osteoporosis were present. Among the participants, osteosarcopenia was identified in 27 (5.20%), sarcopenia-alone in 6 (1.16%), and osteoporosis-alone in 257 (49.52%). Logistic regression analysis revealed that age (OR = 1.188, 95% CI: 1.085-1.300) and insufficient exercise (< 30 min/day) (OR = 5.606, 95% CI: 1.591-19.762) were significant associated factors for osteosarcopenia. Conversely, body mass index (OR = 0.569, 95% CI: 0.440-0.736), basal metabolic rate (OR = 0.992, 95% CI: 0.989-0.996), and weekly egg consumption (OR = 0.713, 95% CI: 0.564-0.900) were negatively associated with osteosarcopenia. Regarding physical function, individuals with osteosarcopenia exhibited significantly poorer physical performance, including longer times in the five-repetition sit-to-stand test, slower TUG times, reduced handgrip strength, lower SPPB scores, and slower gait speeds (P < 0.01-P < 0.001).</p><p><strong>Conclusion: </strong>This study highlights the prevalence of osteosarcopenia and its impact on physical function in the elderly Chinese population. It identifies key associated factors that could guide the early recognition, diagnosis, and management of osteosarcopenia in China.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-12-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145726935","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}
Pub Date : 2025-12-09DOI: 10.1007/s40618-025-02711-4
Ye Wang, Jiafu Li, Shichun Gao, Dejing Dang, Yanlin Chen, Zhiyu Li, Hong Yang
{"title":"Correction: The role of TMEM163 protein in thyroid microcarcinoma: expression pattern and clinical implications.","authors":"Ye Wang, Jiafu Li, Shichun Gao, Dejing Dang, Yanlin Chen, Zhiyu Li, Hong Yang","doi":"10.1007/s40618-025-02711-4","DOIUrl":"https://doi.org/10.1007/s40618-025-02711-4","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145710220","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}
Pub Date : 2025-12-09DOI: 10.1007/s40618-025-02758-3
Filippo Ceccato, Massimo Terzolo, Federico Gatto, Salvatore Cannavò, Antonio Bianchi, Andrea M Isidori, Annamaria Colao, Diego Ferone, Gianluca Aimaretti, Francesca Pecori Giraldi, Giorgio Arnaldi, Carla Scaroni
Introduction: This Position Statement presents the recommendations of the Italian Society of Endocrinology (SIE) to identify patients with Cushing's syndrome in specific clinical settings. We set two overarching research questions: 1. Which subjects should be screened ("who" should be screened)? 2. Which is the most appropriate first-line test ("how" to screen) for screening? All suggestions/recommendations are evidence-based and directed at endocrinologists and other physicians who deal with patients who have presumptive Cushing's syndrome.
Methods: The recommendations, developed by a SIE committee, were formulated based on eight short-reviews commissioned to experts of the SIE Pituitary and Adrenal Clubs. These short reviews, published in a special issue of the Journal of Endocrinological Investigation, reported a comprehensive review of the literature, and each of them answered the two research questions (who and how to screen for hypercortisolism) in a specific population: (1) patients with type 2 diabetes mellitus or obesity; (2) patients with arterial hypertension; (3) children and adolescents; (4) women with hyperandrogenism and/or menstrual irregularities; (5) patients with osteoporosis and/or fractures; (6) patients with mood disorders; (7) patients with adrenal and pituitary incidentaloma; (8) patients with unusual infections or thrombotic events. Finally, 24 recommendations were formulated, based on the quality of available evidence.
Conclusions: The evidence-based Position Statement provides clear and pragmatic advice regarding "who" and "how" to screen for Cushing's syndrome. The suggestions/recommendations are developed for all health care providers, not only endocrinologists, to raise awareness on the diagnosis of Cushing's syndrome.
{"title":"Who and how to screen for Cushing's syndrome: the position statement of the Italian Society of Endocrinology.","authors":"Filippo Ceccato, Massimo Terzolo, Federico Gatto, Salvatore Cannavò, Antonio Bianchi, Andrea M Isidori, Annamaria Colao, Diego Ferone, Gianluca Aimaretti, Francesca Pecori Giraldi, Giorgio Arnaldi, Carla Scaroni","doi":"10.1007/s40618-025-02758-3","DOIUrl":"https://doi.org/10.1007/s40618-025-02758-3","url":null,"abstract":"<p><strong>Introduction: </strong>This Position Statement presents the recommendations of the Italian Society of Endocrinology (SIE) to identify patients with Cushing's syndrome in specific clinical settings. We set two overarching research questions: 1. Which subjects should be screened (\"who\" should be screened)? 2. Which is the most appropriate first-line test (\"how\" to screen) for screening? All suggestions/recommendations are evidence-based and directed at endocrinologists and other physicians who deal with patients who have presumptive Cushing's syndrome.</p><p><strong>Methods: </strong>The recommendations, developed by a SIE committee, were formulated based on eight short-reviews commissioned to experts of the SIE Pituitary and Adrenal Clubs. These short reviews, published in a special issue of the Journal of Endocrinological Investigation, reported a comprehensive review of the literature, and each of them answered the two research questions (who and how to screen for hypercortisolism) in a specific population: (1) patients with type 2 diabetes mellitus or obesity; (2) patients with arterial hypertension; (3) children and adolescents; (4) women with hyperandrogenism and/or menstrual irregularities; (5) patients with osteoporosis and/or fractures; (6) patients with mood disorders; (7) patients with adrenal and pituitary incidentaloma; (8) patients with unusual infections or thrombotic events. Finally, 24 recommendations were formulated, based on the quality of available evidence.</p><p><strong>Conclusions: </strong>The evidence-based Position Statement provides clear and pragmatic advice regarding \"who\" and \"how\" to screen for Cushing's syndrome. The suggestions/recommendations are developed for all health care providers, not only endocrinologists, to raise awareness on the diagnosis of Cushing's syndrome.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145710242","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}
Pub Date : 2025-12-09DOI: 10.1007/s40618-025-02757-4
F Trimarchi, S Minisola
{"title":"The syndrome of Toulouse-Lautrec in a young busker.","authors":"F Trimarchi, S Minisola","doi":"10.1007/s40618-025-02757-4","DOIUrl":"https://doi.org/10.1007/s40618-025-02757-4","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-12-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145710254","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}
Pub Date : 2025-12-04DOI: 10.1007/s40618-025-02771-6
Enes Ucgul
{"title":"Letter to the Editor: \"Comparative analysis of cardiac dysfunction in non-functioning adrenal adenomas, primary aldosteronism, and essential hypertension''.","authors":"Enes Ucgul","doi":"10.1007/s40618-025-02771-6","DOIUrl":"https://doi.org/10.1007/s40618-025-02771-6","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145670313","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}
Pub Date : 2025-12-03DOI: 10.1007/s40618-025-02767-2
Pedro Iglesias, Inés Iglesias
{"title":"Hormonal crossroads of the heart: from classic endocrine regulation to cardiac hormone secretion: an updated review.","authors":"Pedro Iglesias, Inés Iglesias","doi":"10.1007/s40618-025-02767-2","DOIUrl":"https://doi.org/10.1007/s40618-025-02767-2","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":3.5,"publicationDate":"2025-12-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145670376","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}