Journal of Endocrinological Investigation最新文献

{"title":"Lactoferrin alleviates oxidative stress and endoplasmic reticulum stress induced by autoimmune thyroiditis by modulating the mTOR pathway in the thyroid.","authors":"Haoran Ding, Jiabo Qin, Yixuan Li, Linghui Dai, Fazhan Xu, Zhijian Liu, Xianbiao Shi, Wenxian Guan, Jianfeng Sang","doi":"10.1007/s40618-024-02505-0","DOIUrl":"https://doi.org/10.1007/s40618-024-02505-0","url":null,"abstract":"<p><p>Autoimmune thyroiditis (AITD) is a prevalent autoimmune disorder characterized by the immune system's attack on thyroid tissue, potentially leading to thyroid dysfunction, with a current lack of effective treatment modalities. Lactoferrin, a crucial functional dietary component obtainable from food sources, primarily exists in mammalian milk. We aim to investigate whether dietary supplementation with lactoferrin can protect the thyroid in Experimental Autoimmune Thyroiditis (EAT) rats. Our study reveals significantly elevated levels of oxidative stress (OS) and endoplasmic reticulum stress (ERS) in the AITD. Lactoferrin markedly reduces OS and infiltration of inflammatory cells in the thyroid tissue of EAT rats. Furthermore, lactoferrin inhibits ERS levels in the thyroid of EAT rats and alleviates cellular apoptosis. In vivo and in vitro experiments elucidate that its protective effect is primarily achieved through the inhibition of mTOR signaling pathway activation. In summary, lactoferrin, a nutrient readily obtainable from food sources, appears to be effective in mitigating thyroid damage in AITD.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-11-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142689347","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":"Androgen receptor CAG repeat polymorphism might be a possible cause of familial constitutional delay of growth and puberty.","authors":"Gözde Akın Kağızmanlı, Reyhan Deveci Sevim, Hayrullah Manyas, Ahu Paketçi, Korcan Demir, Ece Böber, Gönül Çatlı, Ahmet Anık, Ayhan Abacı","doi":"10.1007/s40618-024-02502-3","DOIUrl":"https://doi.org/10.1007/s40618-024-02502-3","url":null,"abstract":"<p><strong>Background: </strong>Induction of puberty in boys with constitutional delay of growth and puberty (CDGP) through a short course of low-dose testosterone therapy indicates the critical interaction between testosterone and the androgen receptor (AR) during the activation and maturation of the hypothalamic-pituitary-gonadal axis at puberty onset. Previous studies have shown an inverse relationship between the CAG repeat length and the transactivation function or expression level of the AR gene.</p><p><strong>Objective: </strong>We aimed to investigate whether the AR CAG repeat polymorphism has any implications on pubertal delay.</p><p><strong>Subjects and methods: </strong>Thirty-three male patients with CDGP were enrolled in the study group, while 53 age-matched healthy individuals who had entered puberty on time were included in the control group. The CAG repeat length was determined through direct DNA sequencing analysis.</p><p><strong>Results: </strong>The median chronological age of boys with CDGP was 14.2 (14.1-14.6) years, compared to 14.2 (13.65-14.8) years for healthy subjects (p = 0.5). In the CDGP group, 22 (66.7%) children had a family history of the condition. There was no significant difference between the groups in terms of AR CAG repeat length (median AR CAG repeat length: 21 (20-24.5) and 20 (20-24), respectively, p = 0.1). However, in boys with CDGP with a similar family history (n = 22), a significantly longer AR CAG repeat length was found compared to the control group (n = 53) (median AR CAG repeat length: 22 (20-25) and 20 (20-24), respectively, p = 0.03). The median AR CAG repeat length in boys without a family history was 21 (20-22) triplets. Although boys with a family history had a slightly longer AR CAG repeat length than those without, the difference was not statistically significant (p = 0.07). Additionally, no significant differences were observed between boys with non-familial CDGP and control subjects (p = 0.8). Furthermore, no significant differences in anthropometric characteristics or hormonal parameters were found when patients with CDGP were categorized by AR CAG repeat length quartiles.</p><p><strong>Conclusion: </strong>This is the first study to investigate the role of AR CAG polymorphism in the etiopathogenesis of CDGP. Our findings suggest that the AR CAG repeat length may be associated with familial CDGP.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142683213","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":"Current evidence on gender-related risk factors for type 1 diabetes, type 2 diabetes and prediabetes: a reappraisal of the Italian study group on gender difference in endocrine diseases.","authors":"Giovanna Muscogiuri, Mariangela Caporusso, Paola Caruso, Chiara Delli Poggi, Martina Vitale, Annalisa Zurru, Annamaria Colao","doi":"10.1007/s40618-024-02491-3","DOIUrl":"https://doi.org/10.1007/s40618-024-02491-3","url":null,"abstract":"<p><strong>Purpose: </strong>Diabetes is a chronic disease with a significant socio-economic burden. Recognizing its risk factors and gender differences within its physio-pathological mechanisms may allow early diagnosis. This review aims to summarize the current evidence on gender differences in terms of prevalence, risk factors and pathogenesis for Type 1 Diabetes (T1D), Type 2 Diabetes (T2D) and prediabetes.</p><p><strong>Methods: </strong>A comprehensive search of English-language articles was conducted in PubMed, EMBASE and Cochrane Library until July 2024. We selected all studies that assessed gender differences on risk factors for diabetes and prediabetes.</p><p><strong>Results: </strong>T1D is an autoimmune disease, with a multifactorial pathogenesis. Contrary to most autoimmune diseases, it has a male gender bias, with a male predominance incidence after puberty, for which the involvement of hormones has been hypothesized in addition to genetic predisposition. In T2D, the accumulation of visceral adipose tissue is recognized as the main predisposing factor for insulin resistance and consequent β-cells loss and dysfunction. Sex hormones influence fat disposition resulting in different body composition between males and females and different metabolic impact. Gender differences in dietary patterns and socio-cultural determinants also influence the risk of T2D. Also, a gender-related risk factor has been detected in prediabetes; indeed, females are at greater risk of impaired glucose tolerance than males.</p><p><strong>Conclusions: </strong>Evidence shows the existence of gender differences in risk factors for T1D, T2D and prediabetes. This suggests that gender should be considered in prevention and screening programs, with the goal of reducing incidence or making an early diagnosis.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142683216","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":"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":"https://doi.org/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":""},"PeriodicalIF":5.4,"publicationDate":"2024-11-21","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}

{"title":"Development and validation of Galectin-3 and CVAI-based model for predicting cognitive impairment in type 2 diabetes.","authors":"Xueling Zhou, Ning Dai, Dandan Yu, Tong Niu, Shaohua Wang","doi":"10.1007/s40618-024-02506-z","DOIUrl":"https://doi.org/10.1007/s40618-024-02506-z","url":null,"abstract":"<p><strong>Objective: </strong>The objective of this study is to develop a predictive model combining multiple indicators to quantify the risk of mild cognitive impairment (MCI) in T2DM patients.</p><p><strong>Methods: </strong>This study included Chinese T2DM patients who were hospitalized at Zhongda Hospital between November 2021 and May 2023. Clinical data, including demographics, medical history, biochemical tests, and cognitive status, were collected. Cognitive assessment was performed using neuropsychological tests, and MCI was diagnosed based on the Montreal Cognitive Assessment (MoCA) scores. The dataset was randomly divided into a training set and a validation set in a 7:3 ratio. Logistic regression analysis was conducted to identify factors influencing MCI in the training set. A nomogram-based scoring model was then developed by integrating these findings with high-risk clinical variables, and its performance was validated in the validation set.</p><p><strong>Results: </strong>In this study, T2DM patients were divided into a training set and a validation set in a 7:3 ratio. There were no significant differences in MCI incidence, demographics, or clinical characteristics between the two groups, confirming the appropriateness of model construction. In the training set, Galectin-3 and CVAI were significantly negatively correlated with cognitive function (MoCA and MMSE scores), and this negative correlation remained after adjusting for confounding variables. Logistic regression analysis revealed that age, CVAI, and Galectin-3 significantly increased the risk of MCI, while years of education had a protective effect. The constructed nomogram model, which integrated age, sex, education level, hypertension, CVAI, and Galectin-3 levels, exhibited high predictive performance (C-index of 0.816), with AUCs of 0.816 in the training set and 0.858 in the validation set, outperforming single indicators. PR curve analysis further validated the superiority of the nomogram model.</p><p><strong>Conclusion: </strong>The straightforward, highly accurate, and interactive nomogram model developed in this study facilitate the early risk prediction of MCI in individuals with T2DM by incorporating Galectin-3, CVAI, and other common clinical risk factors.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-11-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142677499","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":"Lactobacillus murinus alleviates insulin resistance via promoting L-citrulline synthesis.","authors":"Jianglan Long, Zhe Shi, Zenghui Miao, Linjie Dong, Dan Yan","doi":"10.1007/s40618-024-02500-5","DOIUrl":"10.1007/s40618-024-02500-5","url":null,"abstract":"<p><strong>Aims: </strong>The role of Lactobacillus murinus as a potential probiotic is being explored. Our objectives were to explore the effects of Lactobacillus murinus on insulin resistance and the underlying mechanism.</p><p><strong>Methods: </strong>Insulin resistance animal models were applied to study the effect of L. murinus and the underlying mechanism by six weeks of treatment. Metformin was administered in vitro to analyze the growth and metabolites of L. murinus. Serum metabolites were further analyzed after L. murinus administration. The effect of L-citrulline and the underlying mechanism in alleviating insulin resistance were evaluated.</p><p><strong>Results: </strong>L. murinus not only reduced body weight gain and postprandial blood glucose (PBG) but improved impaired glucose tolerance (IGT) and insulin resistance. Moreover, L. murinus inhibited the secretion of pro-inflammatory factors (IL-1β, IL-6 and TNF-α) while promoted the secretion of anti-inflammatory factor (IL-10). Further, L. murinus promoted the expression of carnitine palmitoyl transferase 1 (CPT1) while inhibited phosphoenolpyruvate carboxykinase (PCK) and glucose-6-phosphatase (G6Pase). A total of 147 metabolites of L. murinus were identified, in which the content of L-citrulline increased to 7.94 times after metformin regulation. Further, the serum concentration of L-citrulline significantly increased after L. murinus administration. Similarly, L-citrulline reduced body weight gain and PBG, improved IGT and insulin resistance. Additionally, L-citrulline improved inflammation, promoted CPT1 while inhibited PCK and G6Pase.</p><p><strong>Conclusions: </strong>L. murinus mediated by L-citrulline alleviated insulin resistance via promoting fatty acid oxidation and inhibiting gluconeogenesis, suggesting that supplementation of L. murinus could be a potential therapeutic approach for type 2 diabetes related to insulin resistance.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-11-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142669538","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":"Additive effect of Bisphenol A and Pefluoro-sulphoctanoic acid exposure at subacute toxic levels, on a murine model of sertoli cell.","authors":"I Sabovic, L De Toni, A Di Nisio, C M Radu, D Gabbia, S De Martin, A Ferlin","doi":"10.1007/s40618-024-02498-w","DOIUrl":"https://doi.org/10.1007/s40618-024-02498-w","url":null,"abstract":"<p><strong>Purpose: </strong>Endocrine disruptors (EDs) interfere with the endocrine system leading to health consquences and reproductive derangements. Most EDs are environmental pollutants whose risk evaluation is hampered by the simultaneous exposure to a number of chemicals. Here we investigated the possible mechanistic involvement of Sertoli cells, the nurse cell population in the seminiferous tubule, in the reproductive toxicity of Bisphenol A (BPA) and perfluoro-octane sulphonate (PFOS), two acknowledged EDs, at recognized subacute toxic levels.</p><p><strong>Methods: </strong>Mouse Sertoli cell line TM4 were exposed for 24 h to 40 ng/mL BPA or 30 ng/mL PFOS or their association. Cell proliferation was measuerd by MTT assay. Cell apoptosis was evaluated with Annexin-V/propidium iodide staining. Protein expression analysis was peformed by western blotting.</p><p><strong>Results: </strong>Compared to unexposed controls (100.0 ± 3.5%), cells exposed to BPA (79.5 ± 3.5%) or PFOS (76.0 ± 7.9%) showed reduced survival rate (P < 0.001 vs control). The exposure to the mixture of BPA and PFOS was associated with a further reduction of cell survival (63.9 ± 7.2%, P < 0.001 vs control) and an increase of the percentage of apoptotic cells (13.7 ± 4.6% control, 40.3 ± 13.5% BPA, PFOS 28.7 ± 5.6%, 67.1 ± 19.6% BPA + PFOS P = 0.001 vs control; P = 0.022 vs BPA). The exposure to the combination of BPA and PFOS was associated with Akt-signaling pathway activation and with the downstream caspase 3 cleavage. In addition, the exposure to the combination of BPA and PFOS was associated with NF-κB activation and increased expression of FasL.</p><p><strong>Conclusion: </strong>Subacute toxic levels of BPA and PFOS display additive effects on Sertoli cell apoptosis with the possible involvement of FasL-dependent germ cell apoptosis.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-11-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142648552","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":"Urinary titin as a biomarker of sarcopenia in diabetes: a propensity score matching analysis.","authors":"Y Takiguchi, R Tsutsumi, M Shimabukuro, H Tanabe, A Kawakami, M Hyodo, K Shiroma, H Saito, M Matsuo, H Sakaue","doi":"10.1007/s40618-024-02490-4","DOIUrl":"https://doi.org/10.1007/s40618-024-02490-4","url":null,"abstract":"<p><strong>Purpose: </strong>Measuring urinary titin levels is expected to be useful in screening for muscle damage or injury in various diseases. We evaluated whether urinary titin levels were elevated in individuals with type 2 diabetes mellitus (T2DM) and how urinary titin levels were associated with the diagnosis of sarcopenia in T2DM.</p><p><strong>Methods: </strong>We performed a cross-sectional analysis of 114 controls and 515 patients with T2DM. Multivariate-adjusted models were used to determine the odds ratios (OR) of urinary titin cutoff values for diagnosing sarcopenia.</p><p><strong>Results: </strong>Urinary titin levels were higher in the T2DM group than in the non-diabetes group after propensity score matching (median [IQR] 3.2 [2.3, 4.6] vs. 4.4 [2.7, 6.9] pmol/mg·creatinine). T2DM was associated with high titin levels after correction for comorbidities (odds ratio 2.46, 95% confidence interval (CI) 1.29-4.70, P = 0.006) but not after correction for sarcopenia-associated factors. Urinary titin levels above the cutoff value showed an odd ratio of 6.61 (age- and body mass index-adjusted, 1.26-34.6, P = 0.021) for the diagnosis of sarcopenia in men with T2DM aged ≥ 75 years.</p><p><strong>Conclusion: </strong>Results indicated that T2DM was associated with a high-titin state and that the urinary titin cutoff value could be useful for identifying candidates at high risk for sarcopenia, such as elderly men.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644649","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":"Circulating microRNA panels in subjects with metabolic dysfunction-associated steatotic liver disease after following a 2-year dietary intervention.","authors":"Ana Luz Tobaruela-Resola, José Ignacio Riezu-Boj, Fermín I Milagro, Paola Mogna-Pelaez, José I Herrero, Mariana Elorz, Alberto Benito-Boillos, Josep A Tur, J Alfredo Martínez, Itziar Abete, María Ángeles Zulet","doi":"10.1007/s40618-024-02499-9","DOIUrl":"https://doi.org/10.1007/s40618-024-02499-9","url":null,"abstract":"<p><strong>Purpose: </strong>Metabolic Dysfunction-Associated Steatotic Liver Disease (MASLD) affects one-third of the global population. Despite its high prevalence, there is a lack of minimally non-invasive diagnostic methods to assess this condition. This study explores the potential of circulating microRNAs (miRNAs) as diagnostic biomarkers for MASLD after a 2-year nutritional intervention.</p><p><strong>Methods: </strong>Fifty-five subjects with steatosis (MASLD group) from the Fatty Liver in Obesity (FLiO) study (NCT03183193) were analyzed at baseline and after 6, 12 and 24 months. Participants were classified into two groups: those who still had steatosis after the intervention (unhealthy group) and those in whom steatosis had disappeared (healthy group). Hepatic status was evaluated through magnetic resonance imaging (MRI), ultrasonography, elastography and serum transaminases. Circulating miRNA levels were measured by RT-PCR.</p><p><strong>Results: </strong>The dietary intervention was able to modulate the expression of circulating miRNAs after 6, 12, and 24 months. Logistic regression analyses revealed that the most effective panels for diagnosing whether MASLD has disappeared after the nutritional intervention included miR15b-3p, miR126-5p and BMI (AUC 0.68) at 6 months, miR29b-3p, miR122-5p, miR151a-3p and BMI (AUC 0.85) at 12 months and miR21-5p, miR151a-3p and BMI at 24 months (AUC 0.85).</p><p><strong>Conclusions: </strong>Circulating miRNAs were useful in predicting MASLD in subjects with overweight or obesity after following a weight-loss oriented nutritional intervention. These findings highlight the potential role of miRNAs in diagnosing MASLD and underscore the importance of precision nutrition in managing and determining MASLD.</p><p><strong>Clinical trial registration: </strong>Trial registration number: NCT03183193 (www.</p><p><strong>Clinicaltrials: </strong>gov).</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":5.4,"publicationDate":"2024-11-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142644647","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 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":"https://doi.org/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":""},"PeriodicalIF":5.4,"publicationDate":"2024-11-12","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}