Endocrine最新文献

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Urinary oxytocin secretion after pituitary surgery, early arginine vasopressin deficiency and syndrome of inappropriate antidiuresis. 垂体术后尿后叶催产素分泌、早期精氨酸抗利尿素缺乏及不适当抗利尿综合征。
IF 3.7 3区 医学
Endocrine Pub Date : 2025-04-01 Epub Date: 2024-12-17 DOI: 10.1007/s12020-024-04131-5
Paul E Constanthin, Nathalie Isidor, Sophie De Seigneux, Shahan Momjian
{"title":"Urinary oxytocin secretion after pituitary surgery, early arginine vasopressin deficiency and syndrome of inappropriate antidiuresis.","authors":"Paul E Constanthin, Nathalie Isidor, Sophie De Seigneux, Shahan Momjian","doi":"10.1007/s12020-024-04131-5","DOIUrl":"10.1007/s12020-024-04131-5","url":null,"abstract":"<p><strong>Purpose: </strong>Transient arginine vasopressin deficiency (AVP-D), previously called diabetes insipidus, is a well-known complication of transsphenoidal pituitary surgery (TPS) with no definite predictive biomarker to date making it difficult to anticipate. While oxytocin (OXT) was previously suggested as a possible biomarker to predict syndrome of inappropriate diuresis (SIAD)-related hyponatraemia after TPS, its secretion in patients presenting with AVP-D remains poorly understood. We therefore hypothesized that OXT might present a different secretion in the case of AVP-D which would support its potential as an early biomarker of AVP-D. Moreover, we hypothesized that abnormal secretion of OXT might occur later on, notably with SIAD.</p><p><strong>Methods: </strong>We measured the urinary output of OXT in 67 consecutive patients subjected to TPS and compared the values of oxytocin between time-points and OXT ratio between groups. The primary endpoint of our study was to identify a difference in urinary OXT excretion in patients suffering from AVP-D compared to patients remaining normonatraemic. As a secondary endpoint, we compared the evolution of OXT secretion after the diagnosis of AVP-D in both groups, comparing the patients that later developed SIAD with the ones that did not.</p><p><strong>Results: </strong>Patients developing AVP-D showed a delay in the increase of OXT secretion after TPS as shown by a significantly lower ratio of OXT between the first postoperative day and the day of surgery (0.88 VS 1.68, p = 0.0162, IC:0.2979-0.2642) but a significantly higher ratio of OXT between the fourth and the first postoperative days (1.17 VS 0.53, p = 0.0006, IC:-2.109-0.6092). Moreover, normonatraemic patients that did not show normalization of OXT levels at day 4 after surgery tended to develop SIAD later on.</p><p><strong>Conclusion: </strong>Taken together, these results show for the first time that OXT release might help predict AVP-D after TPS and differentiate it from other pathologies of water-sodium balance.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"262-272"},"PeriodicalIF":3.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11933140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142834570","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}
引用次数: 0
Gender impact on pancreatic neuroendocrine neoplasm (PanNEN) prognosis according to survival nomograms. 性别对胰腺神经内分泌肿瘤(PanNEN)预后的影响。
IF 3.7 3区 医学
Endocrine Pub Date : 2025-04-01 Epub Date: 2024-12-13 DOI: 10.1007/s12020-024-04129-z
Anna La Salvia, Roberta Modica, Francesca Spada, Roberta Elisa Rossi
{"title":"Gender impact on pancreatic neuroendocrine neoplasm (PanNEN) prognosis according to survival nomograms.","authors":"Anna La Salvia, Roberta Modica, Francesca Spada, Roberta Elisa Rossi","doi":"10.1007/s12020-024-04129-z","DOIUrl":"10.1007/s12020-024-04129-z","url":null,"abstract":"<p><strong>Purpose: </strong>Personalizing care and outcome evaluation are important aims in the field of NEN and nomograms may represent useful tools for clinicians. Of note, gender difference is being progressively more considered in NEN care, as it may also impact on survival. This systematic review aims to describe and analyze the available nomograms on pancreatic NENs (PanNENs) to identify if gender differences are evaluated and if they could impact on patients' management and prognosis.</p><p><strong>Methods: </strong>We performed an electronic-based search using PubMed updated until June 2024, summarizing the available evidence of gender impact on PanNEN survival outcomes as emerges from published nomograms.</p><p><strong>Results: </strong>34 articles were identified regarding prognostic nomograms in PanNEN fields. The most included variables were age, tumor grade, tumor stage, while only 5 papers (14.7%) included sex as one of the key model variables with a significant impact on patients' prognosis. These 5 studies analyzed a total of 18,920 PanNENs. 3 studies found a significant impact of sex on overall survival (OS), whereas the remaining 2 studies showed no significant impact of sex on OS.</p><p><strong>Conclusions: </strong>Gender difference is being progressively more considered in PanNEN diagnosis, care and survival. Nomograms represent a potentially useful tool in patients' management and in outcomes prediction in the field of PanNENs. A key role of sex in the prognosis of PanNENs has been found in few models, while definitive conclusions couldn't be drawn. Future studies are needed to finally establish gender impact on PanNEN prognosis.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"14-23"},"PeriodicalIF":3.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142817467","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}
引用次数: 0
Primary tumor resection with or without neck lymph node dissection as a viable initial therapy for medullary thyroid carcinoma with distant metastasis. 原发性肿瘤切除伴或不伴颈部淋巴结清扫作为甲状腺髓样癌远处转移的可行的初始治疗方法。
IF 3.7 3区 医学
Endocrine Pub Date : 2025-04-01 Epub Date: 2024-12-19 DOI: 10.1007/s12020-024-04133-3
Ziyi Chen, Wangwang Qiu, Ting Yan, Huaiyu Weng, Yufan Tang, Jianyong Lv, Zhili Yang
{"title":"Primary tumor resection with or without neck lymph node dissection as a viable initial therapy for medullary thyroid carcinoma with distant metastasis.","authors":"Ziyi Chen, Wangwang Qiu, Ting Yan, Huaiyu Weng, Yufan Tang, Jianyong Lv, Zhili Yang","doi":"10.1007/s12020-024-04133-3","DOIUrl":"10.1007/s12020-024-04133-3","url":null,"abstract":"<p><strong>Objective: </strong>Patients with distant metastatic medullary thyroid carcinoma (DMMTC) often undergo primary tumor resection (PTR) with or without neck lymph node dissection (NLND) before systemic therapy. However, whether these patients benefit from treatment remains unclear.</p><p><strong>Methods: </strong>Patients with DMMTC were identified from the Surveillance, Epidemiology, and End Results (SEER) database between 2010 and 2020. The overall survival (OS) and disease-specific survival (DSS) were established by Kaplan-Meier curves and were compared using the log-rank test or two-stage test between different treatment modalities (surgery, non-surgery) after propensity score matching (PSM). We also analyzed the effects of surgical and non-surgical treatments on the OS and DSS of patients stratified by TNM stages T1-2 and T3-4 in this cohort.</p><p><strong>Results: </strong>Among the 2336 patients with medullary thyroid carcinoma from the SEER database, 186 were diagnosed with DMMTC, with an average follow-up period of 28.12 months. Pairwise analysis after PSM revealed that the surgery group had a significantly improved survival rate compared to the non-surgery group (OS p = 0.00039, DSS p = 0.001). The survival advantages of the above-mentioned surgery group were maintained when stratified by stages T1-2 and T3-4.</p><p><strong>Conclusion: </strong>Our results demonstrate that PTR with or without NLND, as an initial therapy, can benefit the survival rate of patients with DMMTC.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"194-202"},"PeriodicalIF":3.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142863789","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}
引用次数: 0
The impact of tamoxifen on apolipoproteins and lipoprotein(a) levels: an updated meta-analysis of randomized controlled trials. 他莫昔芬对载脂蛋白和脂蛋白(a)水平的影响:随机对照试验的最新荟萃分析
IF 3.7 3区 医学
Endocrine Pub Date : 2025-04-01 Epub Date: 2025-01-07 DOI: 10.1007/s12020-024-04128-0
Yi Jiang, Lantian Zhang, Dongyi Shen, Haiyan Sun
{"title":"The impact of tamoxifen on apolipoproteins and lipoprotein(a) levels: an updated meta-analysis of randomized controlled trials.","authors":"Yi Jiang, Lantian Zhang, Dongyi Shen, Haiyan Sun","doi":"10.1007/s12020-024-04128-0","DOIUrl":"10.1007/s12020-024-04128-0","url":null,"abstract":"<p><strong>Objective: </strong>The existing evidence regarding the impact of tamoxifen on lipoprotein(a) and apolipoproteins remains inconsistent. Therefore, this updated meta-analysis of randomized controlled trials (RCTs) aims to enhance the quality of evidence concerning the effects of tamoxifen on these lipid parameters.</p><p><strong>Methods: </strong>Eligible RCTs published up to October 2024 were meticulously selected through a comprehensive search. A meta-analysis was then performed using a random-effects model, and results were presented as the weighted mean difference (WMD) with a 95% confidence interval (CI).</p><p><strong>Results: </strong>Findings from the random-effects model revealed an increase in ApoA-I (WMD: 15.22 mg/dL, 95% CI: 6.43-24.01, P = 0.001), alongside decreases in ApoB (WMD: -9.33 mg/dL, 95% CI: -15.46 to -3.19, P = 0.003) and lipoprotein(a) (WMD: -3.35 mg/dL, 95% CI: -5.78 to -0.91, P = 0.007) levels following tamoxifen treatment in women. Subgroup analyses indicated a more significant reduction in lipoprotein(a) levels in RCTs with a duration of ≤24 weeks (WMD: -3.65 mg/dL) and in studies using tamoxifen doses of ≥20 mg/day (WMD: -4.53 mg/dL).</p><p><strong>Conclusion: </strong>This meta-analysis provides evidence that tamoxifen leads to a decrease in lipoprotein(a) levels, along with reductions in ApoB and increases in ApoA-I among women.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"51-59"},"PeriodicalIF":3.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946475","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}
引用次数: 0
Ovarian function measures in normogonadotropic anovulation and subclinical thyroid dysfunction: a prospective cohort study. 促性腺激素正常无排卵和亚临床甲状腺功能障碍的卵巢功能测量:一项前瞻性队列研究。
IF 3.7 3区 医学
Endocrine Pub Date : 2025-04-01 Epub Date: 2025-01-02 DOI: 10.1007/s12020-024-04151-1
Iwona Gawron, Rafal Baran, Robert Jach
{"title":"Ovarian function measures in normogonadotropic anovulation and subclinical thyroid dysfunction: a prospective cohort study.","authors":"Iwona Gawron, Rafal Baran, Robert Jach","doi":"10.1007/s12020-024-04151-1","DOIUrl":"10.1007/s12020-024-04151-1","url":null,"abstract":"<p><strong>Purpose: </strong>To compare ovarian function measures in euthyroid women with normogonadotropic anovulation in subclinical hypothyroidism (SCH) or thyroid autoimmunity (TAI) to those without thyroid dysfunction.</p><p><strong>Design: </strong>A prospective open-label cohort study analyzed anti-Müllerian hormone (AMH), follicle-stimulating hormone (FSH), luteinizing hormone, estradiol and testosterone concentrations, ovarian volume, and polycystic ovarian morphology (PCOM) incidence between women with and without SCH or TAI in two study arms: polycystic ovary syndrome (PCOS) and hypothalamic-pituitary-ovarian dysfunction (HPOD).</p><p><strong>Results: </strong>The prevalence of circulating thyroid peroxidase antibodies (TPOAb) was higher in the PCOS compared to the HPOD arm (p = 0.006). No significant differences in the measured parameters were observed based on SCH or TAI status across the entire cohort or individual study arms, except for phenotype D of PCOS, where a greater volume (p = 0.031) and higher incidence of physiological lesions (p = 0.047) in the left ovary were noted in SCH, and phenotype A, where LH concentrations (p = 0.038) were significantly higher in women without TAI. In the PCOS arm, thyroglobulin antibodies (TGAb) concentration correlated negatively with FSH (p = 0.049) and positively with testosterone (p = 0.012) concentrations, while in the HPOD arm, TPOAb and FSH concentrations were negatively correlated (p = 0.028).</p><p><strong>Conclusions: </strong>No clinically significant impact of SCH on ovarian function measures was demonstrated. Regarding TAI, significant correlations with still uncertain clinical significance were observed with FSH concentrations, both in PCOS and in HPOD. In view of the obtained results, the benefits of thyroxine supplementation to address menstrual irregularities and improve obstetric outcomes in the examined conditions, require support with clinical evidence.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"330-347"},"PeriodicalIF":3.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142914036","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}
引用次数: 0
The value of non-punctate echogenic foci in the ultrasonic diagnosis of thyroid nodules. 非点状回声灶在甲状腺结节超声诊断中的价值。
IF 3.7 3区 医学
Endocrine Pub Date : 2025-04-01 Epub Date: 2025-01-11 DOI: 10.1007/s12020-024-04152-0
Rui Zhang, Xiqian Wang, Ming Xiao, Jie Zhang
{"title":"The value of non-punctate echogenic foci in the ultrasonic diagnosis of thyroid nodules.","authors":"Rui Zhang, Xiqian Wang, Ming Xiao, Jie Zhang","doi":"10.1007/s12020-024-04152-0","DOIUrl":"10.1007/s12020-024-04152-0","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the diagnostic value of different subtypes of non-punctate echogenic foci in thyroid malignancy.</p><p><strong>Methods: </strong>Retrospective research of 342 thyroid nodules with calcification was performed. The echogenic foci were divided into punctate echogenic foci (type I) and non-punctate echogenic foci (type II), and type II were further divided into four subtypes: macrocalcification (type IIa), continuous peripheral calcification (type IIb), discontinuous peripheral calcification (type IIc) and isolated calcification (type IId). Postoperative histopathological results were used as the gold standard to evaluate the correlation between non-punctate echogenic foci subtypes and thyroid malignancy.</p><p><strong>Results: </strong>The malignant risk of nodules with echogenic foci was type I (82.1%) > type IIa (66.2%) > type IIc (52.9%) > type IId (16.7%) > type IIb (13.9%), P < 0.001. Type I and type IIa echogenic foci were independent risk factors for thyroid cancer (OR = 16.593, 7.785). Solid, hypoechogenicity/marked hypoechogenicity and a single lesion in a unilateral thyroid lobe were independently associated with malignant thyroid nodules with macrocalcification(OR = 6.825, 40.042, 5.201). Irregular margins and uneven calcification thickness were independent factors for malignant thyroid nodules with peripheral calcification (OR = 5.676, 2.750).</p><p><strong>Conclusion: </strong>Type IIa echogenic foci could independently predict thyroid malignancy. The diagnostic value of non-punctate echogenic foci depended on the differentiated combination of ultrasound characteristics. Type IIa nodules with solid composition, irregular margins, and a single lesion in a unilateral thyroid lobe implied a higher risk of malignancy; peripheral calcified nodules with irregular margins and uneven calcification thickness suggested an increased risk of malignancy.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"223-233"},"PeriodicalIF":3.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142964251","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}
引用次数: 0
Regional brain glucose uptake following gastric bypass surgery during normo- and hypoglycemic clamp: a pilot FDG-PET study. 正常和低血糖钳夹期间胃旁路手术后局部脑葡萄糖摄取:一项FDG-PET试验研究。
IF 3.7 3区 医学
Endocrine Pub Date : 2025-04-01 Epub Date: 2024-12-07 DOI: 10.1007/s12020-024-04127-1
Giovanni Fanni, Sofia Kvernby, Sadiq Radhi, Argyri Mathioudaki, Magnus Sundbom, Sven Haller, Erika Roman, Johan Wikström, Mark Lubberink, Jan W Eriksson
{"title":"Regional brain glucose uptake following gastric bypass surgery during normo- and hypoglycemic clamp: a pilot FDG-PET study.","authors":"Giovanni Fanni, Sofia Kvernby, Sadiq Radhi, Argyri Mathioudaki, Magnus Sundbom, Sven Haller, Erika Roman, Johan Wikström, Mark Lubberink, Jan W Eriksson","doi":"10.1007/s12020-024-04127-1","DOIUrl":"10.1007/s12020-024-04127-1","url":null,"abstract":"<p><strong>Purpose: </strong>We aimed to characterize the RYGB-induced changes in the dynamics of brain glucose uptake. We addressed heterogeneity between brain regions during experimental normo- and hypoglycemia and explored associations with anthropometric and metabolic outcomes of RYGB.</p><p><strong>Methods: </strong>Analyses of regional brain glucose uptake were performed on 9 individuals with obesity and no diabetes, investigated with combined brain <sup>18</sup>F-FDG-PET and fMRI during hyperinsulinemic normo- and hypoglycemic clamp, one month before and four months after RYGB. FDG clearance, reflecting glucose uptake rate, was assessed in 38 brain regions, covering all cortical areas and subcortical nuclei, during hyperinsulinemic normo- and hypoglycemia. Correlation analyses were performed to identify associations with other outcomes of RYGB.</p><p><strong>Results: </strong>FDG uptake rate during hypoglycemia was higher than during normoglycemia in all brain regions, both before and after RYGB. Moreover, in most regions and especially in cortical areas involved in inhibitory behavioral control, FDG uptake rate tended to be reduced after surgery during normoglycemia but elevated during hypoglycemia. However, these post-surgical changes in FDG uptake rate were opposite in the hypothalamus. Thus, the hypo-to-normoglycemia FDG clearance ratio tended to increase in all brain regions following RYGB, but not in the amygdala and the hypothalamus. Changes in regional FDG uptake rate after RYGB during normoglycemia were associated with weight loss and improved systemic insulin sensitivity.</p><p><strong>Conclusion: </strong>Using dynamic FDG-PET, we show region-specific patterns of changes in glucose utilization following RYGB. In the hypothalamus, glucose uptake during normoglycemia tended to rise after RYGB while it was reduced in cortical regions involved in behavioral control. Following RYGB, the hypothalamus and amygdala, in contrast to other regions, displayed trends of reduced glucose uptake during hypoglycemia. These pilot results highlight the brain effects of RYGB and suggest behavioral and neuroendocrine adaptations which contribute to its antidiabetic effects.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"110-121"},"PeriodicalIF":3.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11933149/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791288","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}
引用次数: 0
Functional study of three cases with novel TBX19 variants. 3例新型TBX19变异的功能研究。
IF 3.7 3区 医学
Endocrine Pub Date : 2025-04-01 Epub Date: 2025-01-08 DOI: 10.1007/s12020-024-04153-z
NokI Lei, Xiang Qiu, Wunying Li, Yanlin Liu, Ronggui Hu, Chuanyin Li, Wenli Lu
{"title":"Functional study of three cases with novel TBX19 variants.","authors":"NokI Lei, Xiang Qiu, Wunying Li, Yanlin Liu, Ronggui Hu, Chuanyin Li, Wenli Lu","doi":"10.1007/s12020-024-04153-z","DOIUrl":"10.1007/s12020-024-04153-z","url":null,"abstract":"<p><strong>Purpose: </strong>Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is an autosomal recessive disorder. This study identifies novel TBX19 variants for CIAD patients, explores its possible effect mechanism at the structural, functional and protein levels, and guides clinicians better understand the condition.</p><p><strong>Methods: </strong>The clinical characteristics of three CIAD children were summarized. Multiple sequence alignment was performed and five algorithms, PROVEA, PolyPhen2, Mutation Taster, FATHMM, and I Mutant2.0, were used for the pathogenicity prediction. In addition, the three-dimensional protein structure of wild-type TBX19 was generated by Alphafold 3 and its variants were shown using PyMOL. Furthermore, immunoblotting analysis was applied to examine changes in the protein levels and the luciferase reporter assay was performed to further investigate the effects of TBX19 and its variants on pro-opiomelanocortin (POMC) transcriptional activity.</p><p><strong>Results: </strong>We describe three Chinese patients with CIAD caused by TBX19 variants. The TBX19 variant, c.856C>T (p.R286*) was classified as pathogenic according to ACMG, whereas the other four variants, c.377C>T (p.P126L), c.602A>T (p.E201V), c.401A>G (p.H134R) and c.299G>A (p.R100H) were predicted to be disease-causing. Variants lead to alter interactions, conformational changes in proteins or truncate protein. TBX19 and PITX1 cooperated, resulting in a strong synergistic activation effect on POMC transcriptional expression. A functional study showed that the variants in our study result in a significant suppression of POMC transcriptional activity compared to wild-type TBX19.</p><p><strong>Conclusions: </strong>Our study identifies five TBX19 loss-of-function variants, two of which are novel and that provides new perspectives into the pathophysiological mechanism and expands the variant spectrum in IAD.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"273-284"},"PeriodicalIF":3.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11933146/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142946556","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}
引用次数: 0
Phosphate metabolism: its impact on disorders of mineral metabolism. 磷代谢:对矿物质代谢紊乱的影响。
IF 3.7 3区 医学
Endocrine Pub Date : 2025-04-01 Epub Date: 2024-11-11 DOI: 10.1007/s12020-024-04092-9
Maisa Monseff Rodrigues da Silva, John P Bilezikian, Francisco J A de Paula
{"title":"Phosphate metabolism: its impact on disorders of mineral metabolism.","authors":"Maisa Monseff Rodrigues da Silva, John P Bilezikian, Francisco J A de Paula","doi":"10.1007/s12020-024-04092-9","DOIUrl":"10.1007/s12020-024-04092-9","url":null,"abstract":"<p><p>Regulatory molecules typically work cooperatively to ensure the efficient functioning of hormonal systems. Examples include LH and FSH in reproductive biology, insulin and glucagon in glucose metabolism. Similarly, calcium and phosphorus are important regulators of skeletal homeostasis. In the circulation, these molecules are under the control of PTH, 1,25(OHD), and FGF23. In turn, these hormones depend upon a mutual and complex interplay among themselves. For example, alterations in calcium metabolism influence phosphorus homeostasis, as occurs in primary hyperparathyroidism (PHPT). Not as well recognized is the influence that abnormalities in phosphorus metabolism can have on calcium homeostasis. In this review, we call attention to the impact that abnormalities in phosphorus can have on calcium metabolism.</p>","PeriodicalId":11572,"journal":{"name":"Endocrine","volume":" ","pages":"1-13"},"PeriodicalIF":3.7,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142616603","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}
引用次数: 0
Detection rate and clinical characteristics of coexisting autoimmune diseases in children with Graves' disease: a single-center study from China. Graves患儿并发自身免疫性疾病的检出率及临床特征:中国单中心研究
IF 3.7 3区 医学
Endocrine Pub Date : 2025-04-01 Epub Date: 2025-01-06 DOI: 10.1007/s12020-024-04148-w
Yang Li, Mu-Qiao Yan, Yan-Ning Song, Qin Zhang, Chun-Xiu Gong
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