Journal of Endocrinological Investigation最新文献

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Evaluation of fluid status in patients with acromegaly through bioelectrical impedance vector analysis: a cross-sectional study.
IF 5.4 2区 医学
Journal of Endocrinological Investigation Pub Date : 2025-02-15 DOI: 10.1007/s40618-025-02541-4
Emanuele Varaldo, Nunzia Prencipe, Alessandro Maria Berton, Daniela Cuboni, Luigi Simone Aversa, Michela Sibilla, Francesca Mocellini, Fabio Bioletto, Ezio Ghigo, Valentina Gasco, Silvia Grottoli
{"title":"Evaluation of fluid status in patients with acromegaly through bioelectrical impedance vector analysis: a cross-sectional study.","authors":"Emanuele Varaldo, Nunzia Prencipe, Alessandro Maria Berton, Daniela Cuboni, Luigi Simone Aversa, Michela Sibilla, Francesca Mocellini, Fabio Bioletto, Ezio Ghigo, Valentina Gasco, Silvia Grottoli","doi":"10.1007/s40618-025-02541-4","DOIUrl":"https://doi.org/10.1007/s40618-025-02541-4","url":null,"abstract":"<p><strong>Purpose: </strong>The acromegalic state is associated with an increase in total body water and sodium. The aim of our study was to assess the hydration status of patients with acromegaly using bioimpedance vector analysis (BIVA), differentiating patients according to their disease status (active, medically controlled or cured) and to compare the confidence and tolerance ellipses of BIVA in those patients in relation to a reference healthy population.</p><p><strong>Methods: </strong>We analyzed data from 73 consecutive patients aged 18 years or older, diagnosed with acromegaly and undergoing regular follow-up at our Division for whom a BIVA analysis was available. Patients were evaluated through BIVA and insulin-like growth factor I (IGF-I), growth hormone (GH), serum sodium and potassium, creatinine, glucose, HbA1c and plasma and urine osmolality were collected. Exclusion criteria were concurrent presence of arginine-vasopressin deficiency, dysnatremia or the presence of pathologies known to significantly alter the extracellular fluid.</p><p><strong>Results: </strong>Sixty-nine patients (M/F 34/35, age 60 ± 14 years) were enrolled in the study. As expected, patients with active disease (n = 22) presented higher IGF-I and GH levels compared to other subjects. Patients with controlled disease (n = 33) were significantly older than other individuals (p = 0.028 vs. active disease, p = 0.024 vs. cured disease). Compared to a reference healthy population, patients with either active or medically controlled disease showed significant fluid overload (p < 0.0001 for both males and females) and BIVA confidence analysis demonstrated that there were no significant differences in hydration status between the two groups (p = 0.363). On the other hand, patients with cured disease (n = 14) showed reduced hydration status compared to patients with active disease (p = 0.016), although no difference was observed compared to patients with controlled disease (p = 0.308).</p><p><strong>Conclusion: </strong>The results of our study demonstrate that patients with either active or medically controlled acromegaly present a significant overhydration compared to a healthy reference population and that alterations in body water content usually improve in individuals with cured disease.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426529","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
Stratified analysis of health and gender-affirming care among Italian transgender and gender diverse adults.
IF 5.4 2区 医学
Journal of Endocrinological Investigation Pub Date : 2025-02-15 DOI: 10.1007/s40618-025-02547-y
Matteo Marconi, Angela Ruocco, Jiska Ristori, Stefania Bonadonna, Rosario Pivonello, Maria Cristina Meriggiola, Giovanna Motta, Francesco Lombardo, Maddalena Mosconi, Alessandro Oppo, Silvia Federici, Luca Bruno, Nunzia Verde, Alessandra Lami, Chiara Michela Crespi, Martina Manoli, Paola Matarrese, Carmela Santangelo, Luciana Giordani, Maria Teresa Pagano, Cristiana Barbati, Sara D'Arienzo, Alessandra Daphne Fisher, Marina Pierdominici
{"title":"Stratified analysis of health and gender-affirming care among Italian transgender and gender diverse adults.","authors":"Matteo Marconi, Angela Ruocco, Jiska Ristori, Stefania Bonadonna, Rosario Pivonello, Maria Cristina Meriggiola, Giovanna Motta, Francesco Lombardo, Maddalena Mosconi, Alessandro Oppo, Silvia Federici, Luca Bruno, Nunzia Verde, Alessandra Lami, Chiara Michela Crespi, Martina Manoli, Paola Matarrese, Carmela Santangelo, Luciana Giordani, Maria Teresa Pagano, Cristiana Barbati, Sara D'Arienzo, Alessandra Daphne Fisher, Marina Pierdominici","doi":"10.1007/s40618-025-02547-y","DOIUrl":"https://doi.org/10.1007/s40618-025-02547-y","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to provide the first comprehensive analysis of the health status of transgender and gender-diverse (TGD) adults in Italy, addressing disparities in physical and mental health and access to gender-affirming care. By combining self-reported health data with clinical evaluations and incorporating demographic and clinical variables, the research offers a robust and previously unavailable health profile of this population.</p><p><strong>Methods: </strong>An anonymous online survey targeting TGD adults across Italy was conducted from June 2020 to June 2021. The survey consisted of self-reported health assessments and clinician-conducted evaluations, collecting data on chronic physical conditions, mental health disorders, infectious diseases, and gender-affirming care. Statistical analyses, including chi-square tests and logistic regression, identified associations between demographics and health outcomes.</p><p><strong>Results: </strong>Among 959 participants, mental health disorders were prevalent, with over half experiencing depression and/or anxiety. Non-binary individuals reported poorer health compared to binary individuals. Chronic conditions such as thyroid disorders were more common in individuals assigned female at birth (AFAB), whereas those assigned male at birth (AMAB) had higher rates of osteoporosis and sexually transmitted infections. Key health predictors included age, education, employment, and engagement in gender-affirming hormone therapy.</p><p><strong>Conclusion: </strong>The study reveals stark health disparities among TGD individuals in Italy, emphasizing the need for targeted health policies, expanded mental health services, and specialized healthcare provider training.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426510","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
Exploring the interplay of karyotype, hormones, sexuality, and body image perception in individuals with Turner syndrome.
IF 5.4 2区 医学
Journal of Endocrinological Investigation Pub Date : 2025-02-13 DOI: 10.1007/s40618-024-02521-0
Chiara Tarantino, Ludovica Vincenzi, Francesco Angelini, Alessandra Tomaselli, Francesco Carlomagno, Elena Rosato, Riccardo Pofi, Andrea Lenzi, Carlotta Pozza, Marianna Minnetti, Matteo Spaziani, Andrea M Isidori, Emilia Sbardella
{"title":"Exploring the interplay of karyotype, hormones, sexuality, and body image perception in individuals with Turner syndrome.","authors":"Chiara Tarantino, Ludovica Vincenzi, Francesco Angelini, Alessandra Tomaselli, Francesco Carlomagno, Elena Rosato, Riccardo Pofi, Andrea Lenzi, Carlotta Pozza, Marianna Minnetti, Matteo Spaziani, Andrea M Isidori, Emilia Sbardella","doi":"10.1007/s40618-024-02521-0","DOIUrl":"https://doi.org/10.1007/s40618-024-02521-0","url":null,"abstract":"<p><strong>Purpose: </strong>Most patients with Turner Syndrome (TS) require Hormone Replacement Therapy (HRT). Androgen levels could be compromised due to both ovarian insufficiency and HRT. Despite this, the association between androgen deficiency, sexual health, and body image perception remains underexplored in these patients. This study aimed to assess hormone levels, sexual function, and body image perception in women with TS, categorized by karyotype and HRT regimen.</p><p><strong>Methods: </strong>A cross-sectional analysis of 29 patients with TS was performed. Clinical, hormonal, and ultrasonographic pelvic parameters were evaluated. Sexual function and body image perception were measured using the Female Sexual Function Index (FSFI) and the Body Uneasiness Test (BUT) questionnaires.</p><p><strong>Results: </strong>The cohort included individuals with X chromosome monosomy (Group A), structural X chromosome alterations in some cell lines (Group B) or in all cell lines (Group C), and cells with 46, XX karyotype and monosomy (Group D). Group A and B compared to Group D displayed lower calculated free testosterone (p = 0.006, p = 0.032) and free androgen index levels (p = 0.007, p = 0.025). DHEA-S values differed between groups A and D (p = 0.043) and between groups A and C (p = 0.044). Sexual activity was reported by approximately half of patients (51.7%), with 57% of them presenting sexual dysfunction. Additionally, 44.8% exhibited possible body image disorder.</p><p><strong>Conclusions: </strong>This study acknowledges significant phenotypic differences linked to karyotype in women with TS, highlighting the prevalence of sexual dysfunction and body image dissatisfaction. These findings emphasize the importance of addressing sexual health and body image issues in patients with rare diseases, often neglected in clinical practice.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411312","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
MiR-27a-5p inhibits malignant progression of differentiated thyroid cancer by directly affecting the miR-27a-5p/SREBP1 axis.
IF 5.4 2区 医学
Journal of Endocrinological Investigation Pub Date : 2025-02-13 DOI: 10.1007/s40618-025-02550-3
Zilan Xie, Jianqiu Liu, Jiating Zhou, Xuan Zhang, Zhi Li
{"title":"MiR-27a-5p inhibits malignant progression of differentiated thyroid cancer by directly affecting the miR-27a-5p/SREBP1 axis.","authors":"Zilan Xie, Jianqiu Liu, Jiating Zhou, Xuan Zhang, Zhi Li","doi":"10.1007/s40618-025-02550-3","DOIUrl":"https://doi.org/10.1007/s40618-025-02550-3","url":null,"abstract":"<p><strong>Purpose: </strong>To detect the expression of miR-27a-5p in differentiated thyroid cancer (DTC) and to explore its correlation with SREBP1 expression, DTC malignant progression, and TSH suppression therapy.</p><p><strong>Methods: </strong>The expression levels of SREBP1 and miR-27a-5p in DTC tissues (n = 75) were detected by qRT-PCR. The expression of miR-27a-5p and SREBP1 was statistically analyzed for correlation with patients' postoperative TSH inhibition therapy. Dual luciferase reporter gene assay was performed to verify the target-regulatory relationship between miR-27a-5p and SREBP1. qRT-PCR and Western blots were performed to detect the effect of miR-27a-5p on the expression level of SREBP1. MTS, plate clone formation assay was performed to detect the effect of miR-27a-5p on the proliferative capacity of cells. Flow cytometry was performed to detect the effect of miR-27a-5p on cell cycle and apoptosis. Scratch assay and Transwell assay was performed to detect the effect of miR-27a-5p on cell migration invasion ability.</p><p><strong>Results: </strong>MiR-27a-5p expression was significantly downregulated in DTC cancer tissues and significantly negatively correlated with SREBP1 expression. It correlated with the outcome of postoperative TSH suppression therapy in DTC patients. The results of dual luciferase reporter gene assay showed that the 3'-UTR region of SREBP1 mRNA was the target site of action of miR-27a-5p. Overexpression of miR-27a-5p was associated with a significant reduction in cell proliferation, cell cycle arrest, increased apoptosis, and diminished cell invasive migration.</p><p><strong>Conclusion: </strong>The miR-27a-5p expression level was negatively correlated with the progression of DTC, which may be inhibited by targeting SREBP1 and correlated with the outcome of TSH inhibitory therapy.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411313","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
Morphometric vertebral fractures at hospitalization associate with Long COVID occurrence.
IF 5.4 2区 医学
Journal of Endocrinological Investigation Pub Date : 2025-02-11 DOI: 10.1007/s40618-025-02544-1
Luigi di Filippo, Mauro Doga, Francesca Mangini, Licia Gifuni, Seynt Jiro Sahagun, Patrizia Rovere Querini, Clifford J Rosen, Andrea Giustina
{"title":"Morphometric vertebral fractures at hospitalization associate with Long COVID occurrence.","authors":"Luigi di Filippo, Mauro Doga, Francesca Mangini, Licia Gifuni, Seynt Jiro Sahagun, Patrizia Rovere Querini, Clifford J Rosen, Andrea Giustina","doi":"10.1007/s40618-025-02544-1","DOIUrl":"10.1007/s40618-025-02544-1","url":null,"abstract":"<p><strong>Purpose: </strong>Long COVID is a multisystemic syndrome leading to significant morbidity. To date, a comprehensive characterization of underlying risk factors is still being defined. Osteoporosis and vertebral fractures (VFs) were associated with worse acute COVID-19 and impaired respiratory recovery after hospitalization. Therefore, we aimed to assess the potential relationship between VFs and the occurrence of the Long COVID syndrome.</p><p><strong>Methods: </strong>Patients hospitalized for acute COVID-19 and subsequently seen in our outpatient follow-up clinic 6-months after discharge were evaluated. We retrospectively included patients with available lateral chest X-rays performed at admission suitable for VFs assessments. We excluded patients with active neoplasia, and those managed at home or those hospitalized in ICU. Long COVID was diagnosed with a multidisciplinary evaluation.</p><p><strong>Results: </strong>One-hundred sixty-two patients were included in the study. At least one VF was found in 42 patients at presentation (25.9%). Patients with VFs were significantly older and predominantly males. Long COVID was diagnosed in 25 patients (15.4%). No differences were found between patients with and without Long COVID regarding demographics and comorbidities; however, those with Long COVID were characterized by a higher prevalence of VFs at time of hospitalization for acute COVID-19 (48% vs. 22%, p = 0.01). After matching patients with and without VFs in a 1:1 ratio for demographics, comorbidities, and COVID-19 severity, a total of 84 patients were analysed and those presenting VFs were characterized by a significant higher prevalence of Long COVID (28.6% vs. 9.5%, p = 0.04) and VFs resulted as the only significant independent risk factor for Long COVID occurrence.</p><p><strong>Conclusions: </strong>We observed that prevalent VFs detected at hospital admission were distinctive clinical features of patients presenting with Long COVID 6-months after discharge, independently from acute disease severity and other confounding factors. This highlights a potential detrimental association between skeletal fragility and the development of Long COVID.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143392301","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
Thyroxine overuse and clinical indices guiding successful treatment withdrawal.
IF 5.4 2区 医学
Journal of Endocrinological Investigation Pub Date : 2025-02-03 DOI: 10.1007/s40618-025-02543-2
Sarantis Livadas, Nicholas Angelopoulos, Anastasios Kollias, Rodis D Paparodis, Ioannis Androulakis, Panagiotis Anagnostis, Anastasios Boniakos, Dimitrios Askitis, Djuro Macut, Juan C Jaume, Leonidas Duntas
{"title":"Thyroxine overuse and clinical indices guiding successful treatment withdrawal.","authors":"Sarantis Livadas, Nicholas Angelopoulos, Anastasios Kollias, Rodis D Paparodis, Ioannis Androulakis, Panagiotis Anagnostis, Anastasios Boniakos, Dimitrios Askitis, Djuro Macut, Juan C Jaume, Leonidas Duntas","doi":"10.1007/s40618-025-02543-2","DOIUrl":"https://doi.org/10.1007/s40618-025-02543-2","url":null,"abstract":"<p><strong>Purpose: </strong>Levothyroxine (LT4) is commonly prescribed, but there is evidence strongly suggesting that a significant proportion of these patients are on treatment without solid evidence of hypothyroidism. Small trials on treatment discontinuation, did not detect any predictors of success. Therefore, we conducted this study in an attempt to identify predicting factors for successful LT4 withdrawal.</p><p><strong>Methods: </strong>In 802 consecutive patients (83% females, mean age 48 ± 16 years) on LT4 treatment for 8.8 ± 7.3 years without a solid diagnosis of hypothyroidism, therapy was abruptly discontinued. A total of 387 persons were followed up for up to 4 months (group A) and 415 individuals who were euthyroid at 4 months post LT4 discontinuation, were followed up for up to 60 months (group B). Recurrent hypothyroidism was defined if thyrotropin (TSH) level exceeded 4.5mIU/L.</p><p><strong>Results: </strong>Among the entire cohort, 182 patients (23%) became hypothyroid, 40% of group A and 7% of group B (p < 0.001). The Τhyroid treatment Discrimination Index (T4RxDI), the product of TSH levels multiplied by the daily LT4 dose divided by BMI, was calculated. In group A, successful LT4 withdrawal was strongly indicated by a T4RxDI value < 2.78 (72% sensitivity, 66% specificity), while in group B, the corresponding value was 3.75 (100% sensitivity, 48% specificity).</p><p><strong>Conclusions: </strong>Our findings reveal considerable overuse of LT4 and propose a T4RxDI product of < 3 as a valuable predictive factor of recurrent hypothyroidism, justifying a treatment discontinuation trial. If hypothyroidism does not resume within 4 months, the risk of developing long-term hypothyroidism is likely to be minimal.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081527","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
Growth hormone replacement therapy enhances humoral response to COVID-19 mRNA vaccination in patients with adult-onset growth hormone deficiency.
IF 5.4 2区 医学
Journal of Endocrinological Investigation Pub Date : 2025-02-03 DOI: 10.1007/s40618-024-02528-7
Davide Masi, Maria Elena Spoltore, Mariaignazia Curreli, Denise Costa, Elena Gangitano, Stefania Mariani, Antonio Angeloni, Lucio Gnessi, Emanuela Anastasi, Carla Lubrano
{"title":"Growth hormone replacement therapy enhances humoral response to COVID-19 mRNA vaccination in patients with adult-onset growth hormone deficiency.","authors":"Davide Masi, Maria Elena Spoltore, Mariaignazia Curreli, Denise Costa, Elena Gangitano, Stefania Mariani, Antonio Angeloni, Lucio Gnessi, Emanuela Anastasi, Carla Lubrano","doi":"10.1007/s40618-024-02528-7","DOIUrl":"https://doi.org/10.1007/s40618-024-02528-7","url":null,"abstract":"<p><strong>Purpose: </strong>Given the established link between GH/insulin-like growth factor 1 (IGF-1) deficiency and severe COVID-19 outcomes, this research seeks to determine whether GH therapy can enhance vaccine efficacy in patients with adult-onset growth hormone deficiency (aGHD).</p><p><strong>Methods: </strong>We conducted an observational retrospective study involving two groups: a cohort of 10 patients (8 females, 2 males) with obesity and aGHD who initiated recombinant GH replacement therapy at a standard dose of 0.1 mg/day six months to one year before their first vaccine dose, and a matched control group of 7 patients (5 females, 2 males) with aGHD who had not started GH treatment. Both groups were matched for age, gender, and body mass index (BMI) to ensure comparability. Blood samples were collected 3 to 6 months after the third booster dose of the COVID-19 vaccine (BNT162b2, Pfizer-BioNTech) and analyzed for anti-SARS-CoV-2 antibodies using a commercially available assay.</p><p><strong>Results: </strong>The GH-treated group exhibited a significantly greater humoral response compared to the untreated group, with a mean antibody titer of 19,122.1 ± 7,736.84 U/mL versus 9,539.14 ± 5,408.90 U/mL in the control group (p = 0.01). Multivariate regression analysis revealed that GH replacement therapy was the only statistically significant predictor of vaccine response, while factors such as male sex, age, and visceral adipose tissue showed negative correlations that did not reach significance.</p><p><strong>Conclusion: </strong>Our findings suggest that GH replacement therapy may enhance the immune response to COVID-19 vaccination in patients with aGHD, potentially improving their overall metabolic health and immune function.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081431","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
Diagnosing osteosarcopenia: rethinking the role of computed tomography scans. 诊断骨肉疏松症:重新思考计算机断层扫描的作用。
IF 5.4 2区 医学
Journal of Endocrinological Investigation Pub Date : 2025-02-01 Epub Date: 2024-09-30 DOI: 10.1007/s40618-024-02432-0
Ahmad Jasem Abdulsalam, Ahmet Furkan Çolak, Murat Kara
{"title":"Diagnosing osteosarcopenia: rethinking the role of computed tomography scans.","authors":"Ahmad Jasem Abdulsalam, Ahmet Furkan Çolak, Murat Kara","doi":"10.1007/s40618-024-02432-0","DOIUrl":"10.1007/s40618-024-02432-0","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"499-500"},"PeriodicalIF":5.4,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142330484","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
Semaglutide cuts kidney risk in obesity. 塞马鲁肽降低肥胖症患者的肾脏风险
IF 5.4 2区 医学
Journal of Endocrinological Investigation Pub Date : 2025-02-01 Epub Date: 2024-11-04 DOI: 10.1007/s40618-024-02494-0
Dario Giugliano, Luca De Nicola, Maria Ida Maiorino, Katherine Esposito
{"title":"Semaglutide cuts kidney risk in obesity.","authors":"Dario Giugliano, Luca De Nicola, Maria Ida Maiorino, Katherine Esposito","doi":"10.1007/s40618-024-02494-0","DOIUrl":"10.1007/s40618-024-02494-0","url":null,"abstract":"","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"295-298"},"PeriodicalIF":5.4,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142569186","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
Clinical and genetic characteristics of hypoparathyroidism in children: a multicenter experience in China. 儿童甲状旁腺功能减退症的临床和遗传特征:中国多中心经验。
IF 5.4 2区 医学
Journal of Endocrinological Investigation Pub Date : 2025-02-01 Epub Date: 2024-11-12 DOI: 10.1007/s40618-024-02465-5
Yingxiao Shen, Wei Yang, Qin He, Xiaoqin Xu, Yan Sun, Zhihua Wang, Xiaohong Yang, Guanping Dong, Ke Huang, Haiyan Wei, Wei Wu, Junfen Fu
{"title":"Clinical and genetic characteristics of hypoparathyroidism in children: a multicenter experience in China.","authors":"Yingxiao Shen, Wei Yang, Qin He, Xiaoqin Xu, Yan Sun, Zhihua Wang, Xiaohong Yang, Guanping Dong, Ke Huang, Haiyan Wei, Wei Wu, Junfen Fu","doi":"10.1007/s40618-024-02465-5","DOIUrl":"10.1007/s40618-024-02465-5","url":null,"abstract":"<p><strong>Objective: </strong>This study was aimed to analyze the clinical and genetic characteristics of hypoparathyroidism in children.</p><p><strong>Methods: </strong>We performed a retrospective analysis of 74 patients diagnosed with pediatric hypoparathyroidism from 2014 to 2023, recruited in five medical centers across China. Data of basic information and clinical tests were extracted from patients' records. Whole-exome sequencing (WES), multiplex ligation-dependent probe amplification (MLPA), and chromosomal microarray analysis (CMA) were utilized to identify the genetic causes.</p><p><strong>Results: </strong>The results indicated a median onset age of 6.07 ± 4.82 years and a median diagnosis age of 6.91 ± 4.88 years. Of the 46 patients who underwent genetic tests, 35 were found to carry pathogenic variants related to hypoparathyroidism. Specifically, 19 cases (19/46, 41.30%) had 22q11.2 microdeletion, while other variations included AIRE (8/46, 17.39%), GATA3 (3/46, 6.52%), CaSR (2/46, 4.34%), and the rest 3 patients with mutations of TBCE, PTH and mitochondrial gene deletion respectively. Convulsions were the most common initial presentation, observed in 43 cases. The non-DGS group exhibited the lowest serum PTH levels compared to DiGeorge syndrome and gene-negative group. Among the 66 patients who underwent cranial CT or MR, 26 (26/66, 39.99%) presented with intracranial calcification.</p><p><strong>Conclusions: </strong>We reported the largest cohort of childhood hypoparathyroidism with genetic diagnoses, reinforcing the view that genetic disorders account for the majority of pediatric hypoparathyroidism, with the 22q11.2 microdeletion being the most prevalent. Identifying the genetic causes of hypoparathyroidism is crucial for predicting patient outcomes, managing comorbidities, and, importantly, informing decisions regarding the potential use of emerging recombinant human PTH therapy.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":"393-400"},"PeriodicalIF":5.4,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142630476","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}
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