Endocrine最新文献

{"title":"Antineoplastic effect of doxorubizen in vitro in continuous and primary human anaplastic thyroid cancer cells.","authors":"Giusy Elia, Silvia Martina Ferrari, Iryna Tkachenko, Dipak Walunj, Eugenia Balestri, Chiara Botrini, Francesca Ragusa, Alessandro Antonelli, Gary Gellerman, Poupak Fallahi","doi":"10.1007/s12020-024-04088-5","DOIUrl":"10.1007/s12020-024-04088-5","url":null,"abstract":"<p><strong>Purpose: </strong>New drugs are needed for the therapy of anaplastic thyroid cancer (ATC). This study aims to investigate doxorubizen (a dual-action structural hybrid (chimera) of doxorubicin (Dox) and DNA methylating drug temozolomide), in comparison with Dox, and alone or in combination with lenvatinib in ATC 8305C cells, and in primary human ATC cell cultures (pATC).</p><p><strong>Methods: </strong>We have investigated doxorubizen, Dox, and lenvatinib on 5 different pATC and in continuous 8305C cell line in vitro, evaluating their effect on cells proliferation by WST-1, apoptosis (Hoechst ad Annexin V assays) and migration (Chemicon QCM™ 96-well Migration Assay).</p><p><strong>Results: </strong>The results have demonstrated: (1) a significant antiproliferative and proapoptotic effect of doxorubizen in 8305C and in pATC; (2) a significant antiproliferative and proapoptotic effect of Dox in pATC, and in 8305C; (3) the antineoplastic effect of lenvatinib in 8305C and in pATC; (4) a stronger antiproliferative and proapoptotic effect of doxorubizen than that of Dox, or lenvatinib; (5) that doxorubizen induced an inhibition of migration in pATC stronger than that of Dox, or lenvatinib; (6) that doxorubizen is able to synergize in vitro with lenvatinib increasing the antiproliferative effect, while doxorubizen alone is the primary factor that promotes the proapoptotic impact.</p><p><strong>Conclusion: </strong>We have first shown that doxorubizen has a potent antineoplastic effect in vitro in 8305C and in 5 different pATC, and that can synergize with lenvatinib. These results open the way to a future evaluation of the antineoplastic effect of doxorubizen in ATC patients.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"1050-1059"},"PeriodicalIF":3.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142681187","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Glycomic profiling of parathyroid neoplasms via lectin microarray analysis.","authors":"Qingyuan Zheng, Ming Cui, Jinheng Xiao, Sen Yang, Tianqi Chen, Yanan Shi, Ya Hu, Quan Liao","doi":"10.1007/s12020-024-04107-5","DOIUrl":"10.1007/s12020-024-04107-5","url":null,"abstract":"<p><strong>Purpose: </strong>Parathyroid carcinoma (PC) is a rare malignancy with a poor prognosis. Diagnosis of PC is often difficult in clinical practice and efficient diagnostic markers are still needed for differential diagnosis. Aberrant glycosylations of glycoproteins were identified with lectin microarray in various cancers, while relevant information is lacking in PC.</p><p><strong>Methods: </strong>In this study, 8 PC and 6 parathyroid adenoma (PA) tissues were assessed using a microarray consisting of 70 lectins. Overall lectin-specific glycosylation patterns were compared between PA and PC tissues. Lectins with significant differential response between PC and PA were further validated by lectin histochemistry.</p><p><strong>Results: </strong>The difference in signal intensities was found in 71.4% (50/70) of the lectins between the two groups (P < 0.05). The vast majority of PCs had higher intensity signals than PAs (PCs vs. PAs, ratio >1) and amaranthus caudatus (ACL) showed the most significantly different response between them (ratio = 2.45). Lectin histochemistry further confirmed higher ACL intensity in PCs than in PAs. The differentially expressed glycans in PC tissues were primarily glucose, mannose, and galactose-based.</p><p><strong>Conclusion: </strong>PC presented unique glycomic features and ACL may serve as a candidate diagnostic marker for PC.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"1224-1234"},"PeriodicalIF":3.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11845408/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142675467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Importance of assessing erectile dysfunction in patients with type 2 diabetes mellitus based on glucose fluctuation: a Cross-Sectional study.","authors":"Shenhang Yao, Shimei Xing, Xiangxiang Shan, Wu Dai, Yonghong Cao, Ben Hu","doi":"10.1007/s12020-025-04206-x","DOIUrl":"https://doi.org/10.1007/s12020-025-04206-x","url":null,"abstract":"<p><strong>Purpose: </strong>To investigate the relationship between glucose fluctuation and erectile dysfunction (ED) in patients with type 2 diabetes mellitus (T2DM).</p><p><strong>Methods: </strong>This cross-sectional study included 317 male patients with T2DM. Participants were categorized into non-ED group (76 cases) and ED group (241 cases) based on International Index of Erectile Function-5 (IIEF-5) scores. Patients were additionally segmented into quartiles based on time in range (TIR). Demographic and laboratory data were collected, and glucose fluctuation indicators were ascertained using flash glucose monitoring.</p><p><strong>Results: </strong>The ED group exhibited significantly lower TIR and IIEF-5 scores compared to the non-ED group (P < 0.05). An increase in TIR levels corresponded with higher IIEF-5 scores and a significant reduction in ED incidence (P < 0.05). Spearman's correlation analysis indicated a positive correlation between IIEF-5 scores and TIR (r = 0.48, P < 0.01). Restricted cubic spline analysis revealed a negative linear association between TIR and ED (P for linearity <0.05). Multivariate logistic regression analysis, after adjusting for confounding factors, confirmed that low TIR is an independent risk factor for ED (P < 0.05).</p><p><strong>Conclusion: </strong>Glucose fluctuation in T2DM patients correlate with ED, with low TIR being independently and positively associated with ED incidence, suggesting it may be a significant risk factor for ED in patients with T2DM.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":""},"PeriodicalIF":3.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143536845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Why do patients with pheochromocytomas/paragangliomas exhibit significantly inconsistent elevation of catecholamines and their metabolites? a large Chinese cohort study.","authors":"Yue Zhou, Yinghan Chen, Wenqian Zhang, Yunying Cui, TianYi Li, Yu Wang, Ming Li, Anli Tong","doi":"10.1007/s12020-024-04094-7","DOIUrl":"10.1007/s12020-024-04094-7","url":null,"abstract":"<p><strong>Objectives: </strong>Inconsistent elevation of catecholamines (CAs) and metanephrines (MNs) was observed in pheochromocytomas/paragangliomas (PPGLs). This study aimed to explore its potential causes and report the diagnostic efficacy of MNs and CAs in a large Chinese PPGL cohort.</p><p><strong>Methods: </strong>Clinical data and results of hormone tests were retrospectively collected. The sensitivity of plasma MNs and 24h-urinary CAs was analyzed. Clinical characteristics were compared between patients with positive and negative biochemical results, and among those with inconsistent elevation of MNs and CAs.</p><p><strong>Results: </strong>Seven hundred and three patients were included, with a median onset age of 41.0 years. Plasma MNs (93% ~ 99%) showed prior diagnostic sensitivity to 24h-urinary CAs (74% ~ 89%). Patients with negative biochemical results presented as a smaller tumor (1.7 cm vs. 4.3 cm, P = 0.001), a higher proportion of normal blood pressure (60.0% vs. 20.5%, P = 0.002) and negative ¹³¹I-meta-iodobenzylguanidine (¹³¹I-MIBG) imaging (55.6% vs. 17.3%, P = 0.012). An earlier age of onset (40.0 vs. 41.0 vs. 44.5 years, P = 0.025), a higher proportion of paroxysmal hypertension (36.5% vs. 29.2% vs. 32.2%, P = 0.005) and the Epinephrine secretion type (79.3% vs. 37.7% vs. 48.0%, P < 0.001) were found in patients with the ratio of MNs/CAs elevation multiples <0.5 than those with the ratio between 0.5 and 2 or >2.</p><p><strong>Conclusions: </strong>Plasma MNs exhibited a superior sensitivity than 24-h-urinary CAs in the Chinese PPGL diagnosis. Patients with a small tumor, normal blood pressure and negative ¹³¹I-MIBG imaging were prone to express negative biochemical levels. Additionally, an obvious elevation of 24-h-urinary CAs than plasma MNs was correlated to paroxysmal hypertension and the Epinephrine type.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"1267-1275"},"PeriodicalIF":3.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616628","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Relation of serum irisin levels with adiposity, components of metabolic syndrome and carotid intima media thickness in prepubertal children with obesity: a cross-sectional study.","authors":"D Herouvi, E A Vlachopapadopoulou, M Vakaki, D Gouriotis, A Marmarinos, C Kalpia, L Kossiva, M Tsolia, K Karavanaki","doi":"10.1007/s12020-024-04139-x","DOIUrl":"10.1007/s12020-024-04139-x","url":null,"abstract":"<p><strong>Aim: </strong>Irisin, a newly discovered adipomyokine, has pleiotropic effects in metabolic and energy homeostasis, insulin resistance (IR), and browning of white adipose tissue. The aim of this study was to evaluate irisin levels in children with obesity and also to elucidate possible relationships between irisin with anthropometric obesity indices, parameters of metabolic syndrome (MetS), and intima media thickness (IMT).</p><p><strong>Methods: </strong>A total of 77 prepubertal children, 4-12 years old, were enrolled in this study, including 44 children with obesity (BMI ≥ 95th percentile) and 33 normal weight controls of matched age and gender. Detailed clinical examination, anthropometric parameters, laboratory data, including serum irisin levels, using ELISA technique and cIMT measurement were carried out in all subjects.</p><p><strong>Results: </strong>Children with obesity had significantly higher values of irisin compared to controls (p = 0.003) independently of age, gender, or IR status. Irisin levels were positively correlated with weight z-score, Body Mass Index (BMI), BMI z-score, % Body Fat, waist circumference (WC), triglycerides (TG), and HOMA-IR (p = 0.016, p = 0.025, p = 0.028, p = 0.035, p = 0.019, p = 0.049, p = 0.007 respectively) and inversely correlated with HDL (p = 0.037). In multiple regression analysis irisin levels were strongly associated with excess adiposity (p < 0.001) and uric acid (p = 0.054).</p><p><strong>Conclusion: </strong>Children with obesity showed an unfavorable cardiometabolic profile and higher levels of IMT and irisin. Moreover, irisin was correlated with metabolic parameters, suggesting that irisin can serve as a prognostic index for future development of MetS in children with obesity.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"1031-1040"},"PeriodicalIF":3.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142892998","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Red cell distribution width: a potential marker of reduced femoral neck bone mineral density in men and postmenopausal women.","authors":"Zhengrong Qi, Liang Zhang, Zhiyao Li, Haomiao Yu, Qiang Li, Lifeng Ma, Yan Yang","doi":"10.1007/s12020-024-04093-8","DOIUrl":"10.1007/s12020-024-04093-8","url":null,"abstract":"<p><strong>Purpose: </strong>Osteoporosis imposes significant burdens. Early detection of high-risk individuals through simple indicators can greatly improve prognosis. Red cell distribution width (RDW), a standard component of a complete blood count, shows promise, yet remains underexplored. This cross-sectional study aimed to investigate the association between RDW and femoral neck and spinal bone mineral density (BMD).</p><p><strong>Methods: </strong>Participants aged 20-79 years from the 2005-2010, 2013-2014, and 2017-2020 cycles of the National Health and Nutrition Examination Survey (NHANES) were included. BMD was measured using dual-energy X-ray absorptiometry (DXA).</p><p><strong>Results: </strong>A total of 13,029 participants were included, comprising 6684 men, 3238 postmenopausal women, and 3107 premenopausal women, with the sample weighted to represent 98,712,128 people. After adjusting for covariates, RDW exhibited a negative association with femoral neck BMD in both men (β = -0.006; 95% CI: -0.010 to -0.002; p = 0.0053) and postmenopausal women (β = -0.005; 95% CI: -0.010 to -0.000; p = 0.0413). Subgroup and sensitivity analyses supported the robustness of these findings. A negative association between RDW and spinal BMD in men approached significance (β = -0.004; 95% CI: -0.008 to 0.000; p = 0.0557). Persistent trends were observed for RDW with spinal BMD in postmenopausal women and with both femoral neck and spinal BMD in premenopausal women.</p><p><strong>Conclusions: </strong>Our study suggests a negative association between RDW and femoral neck BMD in both men and postmenopausal women. These findings highlight the potential of RDW as a marker for identifying individuals at higher risk of osteoporosis.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"1204-1215"},"PeriodicalIF":3.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616627","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Lead exposure and physical frailty in patients with type 2 diabetes mellitus: cross-sectional results from the METAL study.","authors":"Bowei Yu, Ying Sun, Yuying Wang, Bin Wang, Kun Zhang, Yingli Lu, Ningjian Wang","doi":"10.1007/s12020-024-04096-5","DOIUrl":"10.1007/s12020-024-04096-5","url":null,"abstract":"<p><strong>Purpose: </strong>Chronic lead exposure continues to be a global environmental concern. Previous studies reported high levels of lead exposure in people with diabetes. Frailty is one of the vital comorbidities of type 2 diabetes mellitus (T2DM); however, researchers have not determined whether lead exposure is a risk factor for frailty in people with T2DM.</p><p><strong>Methods: </strong>This cross-sectional study explored the association between blood lead levels and frailty in a Shanghai diabetic population cohort. Individuals who met ≥3 of 5 predefined criteria (weight loss, exhaustion, low physical activity, slow walking speed and low grip strength) were defined as frailty.</p><p><strong>Results: </strong>A total of 884 participants with T2DM (50.6% men, mean age 70.6 ± 7.4 years) were included. Among them, 147 (16.6%) patients were frail, and the median (interquartile range) concentration of blood lead was 16.0 µg/L (12.0-23.0). Compared with the participants within the lowest quartile of serum lead, positive associations of the 2nd and 4th lead quartiles with frailty were observed (OR, 95% CI; 1.70 1.01-2.84 and 1.72 1.03-2.88, respectively) after adjusting for age, sex and body mass index (BMI). After further adjustment for drinking status, smoking status, diet, education, blood pressure, triglycerides and glycosylated hemoglobin, the associations of serum lead with frailty were still significant for the 4th and 2nd-4th quartiles of lead (1.71, 1.01-2.91 and 1.57, 1.02-2.41, respectively). In the subgroup analyses, we found positive associations of serum lead with frailty in elderly individuals (1.77, 1.13-2.79), those with obesity (2.14, 1.02-4.51), those with unhealthy diets (2.52, 1.26-5.04), and those without hyperlipidemia (2.09, 1.12-3.88), although the interactions were not statistically significant (P for interaction all >0.05).</p><p><strong>Conclusion: </strong>This work provides evidence of an association between chronic lead exposure and physical frailty in a diabetic population in a Chinese cohort. Future prospective and mechanistic studies are warranted to confirm our findings.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"987-996"},"PeriodicalIF":3.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616591","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Survival trends and conditional survival in patients with pulmonary metastases from differentiated thyroid carcinoma.","authors":"Xiaoyu Ji, Wei Sun, Chengzhou Lv, Jiapeng Huang, Ruonan Yu, Wenwu Dong, Hao Zhang","doi":"10.1007/s12020-024-04109-3","DOIUrl":"10.1007/s12020-024-04109-3","url":null,"abstract":"<p><strong>Introduction: </strong>Patients with pulmonary metastases from differentiated thyroid carcinoma (DTC) have a significantly poorer prognosis compared to DTC patients without metastases. This study aimed to establish a nomogram combined with dynamic survival analysis to predict the survival probability of patients with pulmonary metastases from differentiated thyroid carcinoma and compensate for the underestimation of survival in patients with very poor prognosis.</p><p><strong>Patients and methods: </strong>Patient data were collected from the Surveillance, Epidemiological, and End Result (SEER) data resource from 2010 to 2019. Multivariate analysis was carried out by the Cox proportional hazards regression to construct a nomogram. Receiver operating characteristic (ROC) curves along with calibration were employed to assess the effectiveness of the model.The life table was used to estimate the conditional cancer-specific survival (CSS).</p><p><strong>Results: </strong>In the training set, the AUCs for the CSS nomogram were 0.728, 0.741, and 0.779, with a c-index of 0.682, indicating good predictive performance at 3, 5, and 10 years. In the validation set, the AUCs for the CSS nomogram were 0.706, 0.726, and 0.769, with a c-index of 0.696, while the AUCs for the 8th TNM staging system were 0.521, 0.555, and 0.601, with a c-index of 0.579. The overall 5-year conditional survival rate for patients increased slightly from 63.44 to 70.52%. The survival gap was greatest between patients aged <55 years and those aged ≥55 years.</p><p><strong>Conclusion: </strong>We established a nomogram combined with dynamic survival analysis, which serve as promising options for prognosis estimation, to enhance personalized evaluation of survival risks and provide the basis for the development of more clinical treatment approaches.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"1120-1130"},"PeriodicalIF":3.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Attenuation of Hypertension and protection of vascular inflammation in hyperaldosteronism: GPER1 as potential therapeutic candidate when MR antagonist is less satisfying?","authors":"Yulian Lai, Ziwei Tang, Zhipeng Du, Qinglian Zeng, Yu Xia, Shangbin Chen, Xun Li, Qingfeng Cheng, Mei Mei, Wenwen He","doi":"10.1007/s12020-024-04106-6","DOIUrl":"10.1007/s12020-024-04106-6","url":null,"abstract":"<p><strong>Background: </strong>Hyperaldosteronism is an endocrine disorder leading to persistent and severe hypertension. G protein-coupled estrogen receptor 1(GPER1) is regarded as a potential receptor of aldosterone (ALDO).</p><p><strong>Objective: </strong>This study aimed to investigate the effects of GPER1 on aldosterone (ALDO)-induced hypertension and inflammation in mice.</p><p><strong>Methods: </strong>GPER1-knockout (KO) and wild-type (WT) C57BL/6j mice were divided into control (CON, normal saline treatment), ALDO (subcutaneous injections of 600 g/kg/d ALDO), and ALDO + eplerenone (EPL) (subcutaneous injections of 600 g/kg/d ALDO and 100 mg/kg/d EPL) groups (n = 5 per group). Fourteen days after drug administration, the heart rate and tail blood pressure of the mice in the different groups were measured. S100A8 and IL-1β protein expression in arterial tissues were detected by western blotting, NLRP3 expression was assessed using immunofluorescence, and CD68 expression was investigated using immunohistochemistry.</p><p><strong>Results: </strong>GPER1 deficiency alleviated ALDO-induced diastolic blood pressure (P< 0.05). In addition, the protein expression levels of IL-1β, S100A8, and CD68 showed significant decreases in the arterial tissues of GPER1-KO mice after combination treatment with ALDO and EPL (all P < 0.05).</p><p><strong>Conclusion: </strong>We discovered attenuation of hypertension and vascular inflammation of GPER1 KO mice only on the basis of mineralocorticoid receptor (MR) blocking. Collectively, our study indicates that GPER1 might become a therapeutic target of hyperaldosteronism in controlling the residual risk of cardiovascular disease when MR antagonist alone is not satisfying.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"1276-1284"},"PeriodicalIF":3.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11845544/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142675464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pediatric hypoparathyroidism: etiological and clinical evaluation in a tertiary center.","authors":"Zümrüt Kocabey Sütçü, Emel Hatun Aytaç Kaplan, Hasan Önal","doi":"10.1007/s12020-024-04110-w","DOIUrl":"10.1007/s12020-024-04110-w","url":null,"abstract":"<p><strong>Purpose: </strong>This study aims to evaluate the etiology, clinical presentation, and management of pediatric hypoparathyroidism in a tertiary center.</p><p><strong>Methods: </strong>A retrospective review was conducted on pediatric patients diagnosed with hypoparathyroidism at the Pediatric Endocrinology Clinic from March 2021 to June 2023. Data on demographic characteristics, presenting symptoms, laboratory findings, genetic analyses, and treatment outcomes were collected.</p><p><strong>Results: </strong>A total of 56 patients (31 females) were included. The median age at diagnosis of the patients was 5.5 years (range 0.04-17 years), and the median age of symptom onset was 5 years (range 0.04-16.5 years). The etiology was genetic and idiopathic in 39 patients (70.9%), with syndromic forms, familial isolated hypoparathyroidism, and hypomagnesemia identified. DiGeorge syndrome was present in 14 patients, making it the most common syndromic form. The syndromes associated with hypomagnesemia were those with mutations in the TRMP6 and CLDN16 genes. Sixteen patients (29.1%) had acquired causes, primarily post-thyroid surgery and autoimmune conditions. Common symptoms included muscle spasms (32.7%) and seizures (21.8%). Laboratory findings revealed a median serum calcium level of 6.7 mg/dL (3.8-8.5) and median serum phosphorus level of 7.7 (4.9-12.5) mg/dL. Treatment primarily involved calcitriol [The median dose of calcitriol is 25 ng/kg/day (range: 25-50 ng/kg/day)] and calcium [The median dose of calcium gluconate is 0.7 mL/kg (range: 0.5-1 mL/kg) and oral calcium is 1000 mg (range: 700-1300 mg)] supplementation. Intravenous calcium gluconate treatment was administered to 39 (70.6%) patients, oral calcium carbonate therapy was given to 16 (29.1%) patients, and calcitriol treatment was initiated for 51 (91.1%) patients. Complications such as nephrocalcinosis (7, 13.7%) and hypercalciuria (7, 13.7%) were observed in some patients.</p><p><strong>Conclusion: </strong>This study emphasizes the significant genetic component, particularly syndromic, in pediatric hypoparathyroidism, highlighting the need for comprehensive genetic evaluation and a multidisciplinary approach for effective management, especially concerning complications. In this way, early and accurate diagnosis will reduce unnecessary tests, treatment approaches, and repeated hospital visits. Regular monitoring is essential to mitigate potential complications associated with long-term treatment.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"1235-1245"},"PeriodicalIF":3.7,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715677","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}