Hormones-International Journal of Endocrinology and Metabolism最新文献

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Challenges and pitfalls in the management of endocrine toxicities from immune checkpoint inhibitors: a case presentation of synchronous thyrotoxicosis and primary adrenal insufficiency in a melanoma patient. 免疫检查点抑制剂内分泌毒性管理的挑战与陷阱:一例黑色素瘤患者同步甲状腺毒症和原发性肾上腺功能不全的病例。
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-12-01 Epub Date: 2024-02-29 DOI: 10.1007/s42000-024-00535-0
Calogera Claudia Spagnolo, Irene Campo, Alfredo Campennì, Davide Cardile, Salvatore Cannavò, Nicola Silvestris, Mariacarmela Santarpia, Rosaria Maddalena Ruggeri
{"title":"Challenges and pitfalls in the management of endocrine toxicities from immune checkpoint inhibitors: a case presentation of synchronous thyrotoxicosis and primary adrenal insufficiency in a melanoma patient.","authors":"Calogera Claudia Spagnolo, Irene Campo, Alfredo Campennì, Davide Cardile, Salvatore Cannavò, Nicola Silvestris, Mariacarmela Santarpia, Rosaria Maddalena Ruggeri","doi":"10.1007/s42000-024-00535-0","DOIUrl":"10.1007/s42000-024-00535-0","url":null,"abstract":"<p><strong>Background: </strong>Immune checkpoint inhibitors have revolutionized the therapeutic approach to several solid tumors, becoming the standard of care for cancer treatment in different disease settings. Despite the fact that these agents are better tolerated than conventional chemotherapy, their use is associated with a specific toxicity profile, so-called immune-related adverse events (irAEs), that can involve several organs. Endocrine irAEs are among the most frequent toxicities (around 10 to 16%) and include hypophysitis, thyroid disorders, adrenalitis, and diabetes mellitus. Some of them may be life-threatening if not promptly recognized (such as diabetic ketoacidosis and acute adrenal crisis).</p><p><strong>Case presentation: </strong>A 55-year-old woman with a personal history of euthyroid Hashimoto's thyroiditis was diagnosed with a metastatic melanoma, BRAF wild type. Under treatment with anti-PD-1 pembrolizumab, she developed thyrotoxicosis followed by hypothyroidism due to destructive thyroiditis and concurrent primary adrenal insufficiency due to adrenalitis.</p><p><strong>Conclusions: </strong>The simultaneous occurrence of adrenal and thyroid autoimmune diseases, resembling autoimmune polyendocrine syndrome type 2, may occur as a rare but serious side effect of ICI treatment. It often presents with abrupt onset and rapid evolution towards polyglandular insufficiency. Physicians should be aware of the potential association of two or more endocrine disorders and careful monitoring of endocrine function is needed during ICI therapy.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"759-764"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139991714","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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 molecular genetics of adrenal cushing. 肾上腺皮质激素的分子遗传学。
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-12-01 Epub Date: 2024-10-10 DOI: 10.1007/s42000-024-00608-0
Patricia Vaduva, Jerome Bertherat
{"title":"The molecular genetics of adrenal cushing.","authors":"Patricia Vaduva, Jerome Bertherat","doi":"10.1007/s42000-024-00608-0","DOIUrl":"10.1007/s42000-024-00608-0","url":null,"abstract":"<p><p>Adrenal Cushing represents 20% of cases of endogenous hypercorticism. Unilateral cortisol-producing adenoma (CPA), a benign tumor, and adrenocortical carcinoma (ACC), a malignant tumor, are more frequent than bilateral adrenal nodular diseases (primary bilateral macronodular adrenal hyperplasia (PBMAH) and primary pigmented nodular adrenal disease (PPNAD)).In cortisol-producing adrenal tumors, the signaling pathways mainly altered are the protein kinase A and Wnt/β-catenin pathways. Studying components of these pathways and exploring syndromic and familial cases of these tumors has historically enabled identification of many of the predisposing genes. More recently, pangenomic sequencing revealed alterations in sporadic tumors.In ACC, mainly due to TP53 alterations causing Li-Fraumeni syndrome, germline predisposition is frequent in children, while it is rare in adults. Pathogenic variants in the DNA mismatch repair genes MLH1, MSH2, MSH6, and PMS2, which cause Lynch syndrome or alterations of IGF2 and CDKN1C (11p15 locus) in Beckwith-Wiedemann syndrome, can also cause ACC. Rarely, ACC is described in other hereditary tumor syndromes due to germline pathogenic variants in MEN1 or APC and, in very rare cases, NF1, SDH, PRKAR1A, or BRCA2. Concerning ACC somatic alterations, TP53 and genetic or epigenetic alterations at the 11p15 locus are also frequently described, as well as CTNNB1 and ZNRF3 pathogenic variants.CPAs mainly harbor somatic pathogenic variants in PRKACA and CTNNB1 and, less frequently, PRKAR1A, PRKACB, or GNAS1 pathogenic variants. Isolated PBMAH is due to ARMC5 inactivating pathogenic variants in 20 to 25% of cases and to KDM1A pathogenic variants in food-dependent Cushing. Syndromic PBMAH may be due to germline pathogenic variants in MEN1, APC, or FH, causing type 1 multiple endocrine neoplasia, familial adenomatous polyposis, or hereditary leiomyomatosis-kidney cancer syndrome, respectively. PRKAR1A germline pathogenic variants are the main alteration causing PPNAD (isolated or part of Carney complex).</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"601-610"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142401840","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Current and experimental pharmacotherapy for the management of non-alcoholic fatty liver disease. 治疗非酒精性脂肪肝的当前和实验性药物疗法。
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-12-01 Epub Date: 2024-08-07 DOI: 10.1007/s42000-024-00588-1
Angeliki Katsarou, Georgios Tsioulos, Eva Kassi, Antonios Chatzigeorgiou
{"title":"Current and experimental pharmacotherapy for the management of non-alcoholic fatty liver disease.","authors":"Angeliki Katsarou, Georgios Tsioulos, Eva Kassi, Antonios Chatzigeorgiou","doi":"10.1007/s42000-024-00588-1","DOIUrl":"10.1007/s42000-024-00588-1","url":null,"abstract":"<p><p>Non-alcoholic fatty liver disease (NAFLD) is a chronic liver disease, with its incidence increasing in parallel with the global prevalence of obesity and type 2 diabetes mellitus. Despite our steadily increasing knowledge of its pathogenesis, there is as yet no available pharmacotherapy specifically tailored for NAFLD. To define the appropriate management, it is important to clarify the context in which the disease appears. In the case of concurrent metabolic comorbidities, NAFLD patients are treated by targeting these comorbidities, such as diabetes and obesity. Thus, GLP-1 analogs, PPAR, and SGLT2 inhibitors have recently become central to the treatment of NAFLD. In parallel, randomized trials are being conducted to explore new agents targeting known pathways involved in NAFLD progression. However, there is an imperative need to intensify the effort to design new, safe drugs with biopsy-proven efficacy. Of note, the main target of the pharmacotherapy should be directed to the regression of fibrotic NASH, as this histologic stage has been correlated with increased overall as well as liver-related morbidity and mortality. Herein we discuss the drugs currently at the forefront of NAFLD treatment.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"621-636"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141903455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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 ACR, European, Korean, and ATA ultrasound risk stratification systems combined with RAS mutations for detecting thyroid carcinoma in cytologically indeterminate and suspicious for malignancy thyroid nodules. ACR、欧洲、韩国和ATA超声风险分层系统结合RAS突变对检测细胞学不确定和可疑恶性甲状腺结节中甲状腺癌的价值。
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-12-01 Epub Date: 2024-06-17 DOI: 10.1007/s42000-024-00573-8
Lorenzo Scappaticcio, Nicole Di Martino, Paola Caruso, Pamela Ferrazzano, Federica Zito Marino, Eduardo Clery, Alessandro Cioce, Giovanni Cozzolino, Maria Ida Maiorino, Giovanni Docimo, Pierpaolo Trimboli, Renato Franco, Katherine Esposito, Giuseppe Bellastella
{"title":"The value of ACR, European, Korean, and ATA ultrasound risk stratification systems combined with RAS mutations for detecting thyroid carcinoma in cytologically indeterminate and suspicious for malignancy thyroid nodules.","authors":"Lorenzo Scappaticcio, Nicole Di Martino, Paola Caruso, Pamela Ferrazzano, Federica Zito Marino, Eduardo Clery, Alessandro Cioce, Giovanni Cozzolino, Maria Ida Maiorino, Giovanni Docimo, Pierpaolo Trimboli, Renato Franco, Katherine Esposito, Giuseppe Bellastella","doi":"10.1007/s42000-024-00573-8","DOIUrl":"10.1007/s42000-024-00573-8","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this study was to evaluate the diagnostic value of four commonly utilized ultrasound (US) RSSs, namely, the American College of Radiology [ACR], European [EU], Korean [K] TI-RADSs and American Thyroid Association [ATA] US-based RSS criteria, in combination with activating point mutations of the RAS genes (NRAS, HRAS, and KRAS) for detection of thyroid carcinoma in cytologically indeterminate and suspicious for malignancy thyroid nodules.</p><p><strong>Methods: </strong>We retrospectively analyzed cytologically indeterminate and suspicious for malignancy thyroid nodules which underwent US, molecular testing and surgery between September 1, 2018, and December 31, 2023. Receiver operating characteristic (ROC) curves were generated, and the area under the curve (AUC, 95% confidence interval [CI]) was calculated.</p><p><strong>Results: </strong>A total of 100 cytologically indeterminate and 24 suspicious for malignancy thyroid nodules were analyzed. Compared to the four US-based RSSs alone, the diagnostic value of the four US-based RSSs combined with RAS mutations did not significantly improved (cytologically indeterminate, AUC [95% CI] 0.6 [0.5-0.7] and 0.6 [0.5-0.7], respectively, p = 0.70; cytologically suspicious for malignancy, AUC [95% CI] 0.7 [0.5-0.9] and 0.8 [0.6-0.9], respectively, p = 0.23).</p><p><strong>Conclusions: </strong>The diagnostic value of the four main US-based RSSs (ACR, EU, K, and ATA) was not improved in conjunction with the evaluation of RAS mutations for preoperative risk stratification of cytologically indeterminate thyroid nodules.</p><p><strong>Clinical relevance statement: </strong>In cytologically indeterminate nodules categorized according to US-based RSSs, isolated RAS positivity does not reliably distinguish between benignity and malignancy.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"687-697"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519098/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141332400","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Effect of TSH on aromatase expression of ovarian granulosa cells in obese mice. 促甲状腺激素对肥胖小鼠卵巢颗粒细胞芳香化酶表达的影响
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-12-01 Epub Date: 2024-06-13 DOI: 10.1007/s42000-024-00571-w
Liping Zhu, Xinhui Zhou, Ling Ma, Yanyan Hu
{"title":"Effect of TSH on aromatase expression of ovarian granulosa cells in obese mice.","authors":"Liping Zhu, Xinhui Zhou, Ling Ma, Yanyan Hu","doi":"10.1007/s42000-024-00571-w","DOIUrl":"10.1007/s42000-024-00571-w","url":null,"abstract":"<p><strong>Purpose: </strong>Aromatase plays an important role in ovarian development, the normal progress of the menstrual cycle, and fertility status. Elevated aromatase activity is linked to obesity. There is a bidirectional relationship between obesity and thyroid function. Few studies have investigated the relationship between TSH and ovarian aromatase in obesity. Our aim was to investigate the effect of TSH on aromatase expression of ovarian granulosa cells in obese mice.</p><p><strong>Methods: </strong>Female mice pups were divided into an obesity group and a control group. Obese parameters and the time of pubertal onset were recorded. At the age of 5 weeks, blood and tissues were obtained. Serum aromatase and hormone concentrations were measured using ELISA. The granulosa cells were isolated and exposed to variable concentrations (0 μM, 1 μM, 10 μM, 100 μM) of TSH. The expression of CYP19A1 mRNA and protein were assessed via RT-qPCR and western blot.</p><p><strong>Results: </strong>In female mice, body weight, Lee's obesity index, and serum levels of E2, aromatase, and TSH were significantly higher in the obesity group compared to the control group, whereas the time of pubertal onset and serum T3 and T4 concentrations were significantly lower (all P < 0.001). In granulosa cells, the expression of CYP19A1 mRNA in the obesity group was lower than that in the control group at 1 μM and 100 μM concentrations of TSH (both P < 0.001). The expression of CYP19A1 protein in the obesity group was higher than that in the control group after TSH stimulation (P = 0.014, P < 0.001, and P = 0.004, respectively). With the increase of TSH concentrations, the expression of CYP19A1 mRNA and protein in the two groups significantly increased (all P < 0.001).</p><p><strong>Conclusion: </strong>Early puberty and elevated serum aromatase and TSH levels were found in obese female mice. In the granulosa cells of obese mice, TSH directly regulates aromatase expression in a dose-dependent manner.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"821-829"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141318825","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Female-specific risk factors for cardiovascular disease: an update. 女性特有的心血管疾病风险因素:最新情况。
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-12-01 Epub Date: 2024-06-26 DOI: 10.1007/s42000-024-00576-5
Angeliki Theodorou, Dimitrios S Karagiannakis, Katerina Stefanaki, Evanthia Kassi, Melpomeni Peppa, Andromachi Vryonidou, Stavroula A Paschou
{"title":"Female-specific risk factors for cardiovascular disease: an update.","authors":"Angeliki Theodorou, Dimitrios S Karagiannakis, Katerina Stefanaki, Evanthia Kassi, Melpomeni Peppa, Andromachi Vryonidou, Stavroula A Paschou","doi":"10.1007/s42000-024-00576-5","DOIUrl":"10.1007/s42000-024-00576-5","url":null,"abstract":"<p><p>Cardiovascular disease (CVD) is the leading cause of morbidity and mortality worldwide. While it was previously believed that men have greater susceptibility to CVD, recent research suggests that women face an increased risk of CVD after the onset of menopause, primarily due to the loss of the protective effects of estrogens. Premature ovarian insufficiency (POI), polycystic ovarian syndrome (PCOS), and gestational factors, such as gestational diabetes mellitus (GDM), recurrent pregnancy loss, preterm delivery, and preeclampsia, are specific reproductive disorders that may contribute to an elevated risk of CVD at earlier ages, i.e., before the onset of menopause. This suggests that women with these conditions should be closely monitored for CVD risk factors even before reaching menopause. Such early intervention may help reduce the incidence of CVD and improve overall cardiovascular health in this population. The precise pathophysiological mechanism underlying the development of CVD in women with menopause, premature POI, PCOS, and gestational factors remains elusive. This review article seeks to elucidate the latest research on the relationship between these conditions and CVD in women, aiming to explore the underlying pathogenic mechanisms contributing to this association.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"637-653"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141452082","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
A schedule for tapering glucocorticoid treatment in patients with severe SARS-CoV 2 infection can prevent acute adrenal insufficiency in the geriatric population. 对严重的 SARS-CoV 2 感染者进行糖皮质激素治疗的减量计划可预防老年急性肾上腺功能不全。
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-12-01 Epub Date: 2024-05-17 DOI: 10.1007/s42000-024-00564-9
Irene Tizianel, Elena Ruggiero, Marianna Torchio, Matteo Simonato, Chiara Seresin, Francesco Bigolin, Ilaria Pivetta Botta, Giulia Bano, Mario Rosario Lo Storto, Carla Scaroni, Filippo Ceccato
{"title":"A schedule for tapering glucocorticoid treatment in patients with severe SARS-CoV 2 infection can prevent acute adrenal insufficiency in the geriatric population.","authors":"Irene Tizianel, Elena Ruggiero, Marianna Torchio, Matteo Simonato, Chiara Seresin, Francesco Bigolin, Ilaria Pivetta Botta, Giulia Bano, Mario Rosario Lo Storto, Carla Scaroni, Filippo Ceccato","doi":"10.1007/s42000-024-00564-9","DOIUrl":"10.1007/s42000-024-00564-9","url":null,"abstract":"<p><strong>Objective and design: </strong>Glucocorticoids (GCs) have been widely used in symptomatic patients for the treatment of COVID-19. The risk for adrenal insufficiency must be considered after GC withdrawal given that it is a life-threatening condition if left unrecognized and untreated. Our study aimed to diagnose adrenal insufficiency early on through a GC reduction schedule in patients with COVID-19 infection.</p><p><strong>Patients and measurements: </strong>From November 2021 to May 2022, 233 patients were admitted to the Geriatric Division of the University Hospital of Padova with COVID-19 infection. A total of 122 patients were treated with dexamethasone, after which the GC tapering was performed according to a structured schedule. It consists of step-by-step GC tapering with prednisone, from 25 mg to 2.5 mg over 2 weeks. Morning serum sodium, potassium, and cortisol levels were assessed 3 days after the last dose of prednisone.</p><p><strong>Results: </strong>At the end of GC withdrawal, no adrenal crisis or signs/symptoms of acute adrenal insufficiency were reported. Median serum cortisol, sodium, and potassium levels after GC discontinuation were, respectively, 427 nmol/L, 140 nmol/L, and 4 nmol/L (interquartile range 395-479, 138-142, and 3.7-4.3). A morning serum cortisol level below the selected threshold of 270 nmol/L was observed in two asymptomatic cases (respectively, 173 and 239 nmol/L, reference range 138-690 nmol/L). Mild hyponatremia (serum sodium 132 to 134 nmol/L, reference range 135-145 nmol/L) was detected in five patients, without being related to cortisol levels.</p><p><strong>Conclusions: </strong>A structured schedule for the tapering of GC treatment used in patients with severe COVID-19 can reduce the risk of adrenal crisis and acute adrenal insufficiency.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"753-758"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140960554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
A toddler with severe vitamin D-dependent rickets type 1 A (VDDR1A), hungry bone syndrome, and severe RSV infection: presentation and therapeutic challenges. 一名患有严重维生素 D 依赖性 1 A 型佝偻病 (VDDR1A)、饥饿骨骼综合征和严重 RSV 感染的幼儿:病症表现和治疗难题。
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-12-01 Epub Date: 2024-07-22 DOI: 10.1007/s42000-024-00579-2
Eleni Statha, George Paltoglou, Artemis Doulgeraki, Eleni Vakali, Elpis Vlachopapadopoulou, Stavroula Economou, Irini-Ikbale Sakou, Alexandra Soldatou, Kyriaki Karavanaki, Elena Fryssira
{"title":"A toddler with severe vitamin D-dependent rickets type 1 A (VDDR1A), hungry bone syndrome, and severe RSV infection: presentation and therapeutic challenges.","authors":"Eleni Statha, George Paltoglou, Artemis Doulgeraki, Eleni Vakali, Elpis Vlachopapadopoulou, Stavroula Economou, Irini-Ikbale Sakou, Alexandra Soldatou, Kyriaki Karavanaki, Elena Fryssira","doi":"10.1007/s42000-024-00579-2","DOIUrl":"10.1007/s42000-024-00579-2","url":null,"abstract":"<p><strong>Background: </strong>Vitamin D-dependent rickets type 1 A (VDDR1A) is an autosomal recessive disorder due to mutations in the CYP27B1 gene which result in inability to generate 1,25(OH)<sub>2</sub>D.</p><p><strong>Case presentation: </strong>An 18-month-old boy with VDDR1A presented with hypotonia and respiratory distress. He had been diagnosed 2 months earlier, having been evaluated for stunted growth, hypotonia, and delayed developmental milestones. He was stabilized with oxygen and bronchodilators for his bronchiolitis and high doses of alfacalcidol, calcium, and phosphate supplements for his hungry bone syndrome. Of note, the patient sustained upper limb fractures after a fall from his bed during admission. Overall, he had a protracted disease course; however, his bone profile gradually improved and he steadily recovered.</p><p><strong>Conclusion: </strong>VDDR1A causes failure to thrive, hypotonia, and increased fracture risk and may complicate the clinical course of lower respiratory tract infections. Furthermore, management of hungry bone syndrome requires supraphysiologic doses of vitamin D metabolites and calcium.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"835-839"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141735564","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
Thyroid complications after hemopoietic stem cell transplantation in children and adolescents. 儿童和青少年造血干细胞移植后的甲状腺并发症。
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-12-01 Epub Date: 2024-07-14 DOI: 10.1007/s42000-024-00584-5
Anatoli Fotiadou, Anna Paisiou, Eugenios Goussetis, Maria Kafetzi, Vilelmini Karayanni, Ioulia Peristeri, Elpis Athina Vlachopapadopoulou
{"title":"Thyroid complications after hemopoietic stem cell transplantation in children and adolescents.","authors":"Anatoli Fotiadou, Anna Paisiou, Eugenios Goussetis, Maria Kafetzi, Vilelmini Karayanni, Ioulia Peristeri, Elpis Athina Vlachopapadopoulou","doi":"10.1007/s42000-024-00584-5","DOIUrl":"10.1007/s42000-024-00584-5","url":null,"abstract":"<p><strong>Purpose: </strong>To evaluate the prevalence of thyroid dysfunction and its association with possible contributing factors related to diagnosis and treatment in children who received hematopoietic stem cell transplantation (HSCT) in the only national transplant unit in Greece.</p><p><strong>Methods: </strong>This is an observational, retrospective, single center cohort study that included 194 patients (58.6% boys) who survived for at least 1 year following allogeneic HSCT. Conditioning regimens depended upon diagnosis and protocols active at the time of transplantation. Some patients received irradiation, either central nervous system prophylaxis (n = 20), or total body irradiation (TBI) (n = 8). Thyroid gland evaluation included thyroid-stimulating hormone, free thyroxine, thyroid autoantibodies, and sonogram. Univariate and multivariate logistic models were used to examine the association of the above-mentioned factors with hypothyroidism.</p><p><strong>Results: </strong>The mean age at diagnosis and at bone marrow transplant (BMT) in years was 7.51 ± 0.46 and 7.58 ± 0.36, respectively. The median follow-up time was 4.83 years. Hypothyroidism was detected in 33 cases (17.7%), four of those patients having received TBI. Factors contributing to hypothyroidism as per the multivariate analysis were male sex, [OR: 3.005, 95% CI (1.145-7.890)], irradiation, [OR: 2.876, 95% CI (1.120-7.386)], and years after HSCT [OR: 1.148, 95% CI (1.042-1.266)], while malignancy was identified only in the univariate analysis. The multivariate model presents a good class separation capacity [AUC = 72%, 95% CI (61.4%-82.4%)], Two patients had papillary thyroid cancer, both among children who had received TBI.</p><p><strong>Conclusion: </strong>These data highlight the fact that male sex and radiotherapy are two independent factors that lead to increased risk for hypothyroidism. Furthermore, the prevalence of hypothyroidism increases with time post HSCT.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"699-707"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141617582","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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 role of low glycemic index and load diets in medical nutrition therapy for type 2 diabetes: an update. 低血糖指数和低血糖负荷饮食在 2 型糖尿病医学营养治疗中的作用:最新进展。
IF 2.4 4区 医学
Hormones-International Journal of Endocrinology and Metabolism Pub Date : 2024-12-01 Epub Date: 2024-05-16 DOI: 10.1007/s42000-024-00566-7
Eleni Gerontiti, Almog Shalit, Katerina Stefanaki, Paraskevi Kazakou, Dimitrios S Karagiannakis, Melpomeni Peppa, Theodora Psaltopoulou, Stavroula A Paschou
{"title":"The role of low glycemic index and load diets in medical nutrition therapy for type 2 diabetes: an update.","authors":"Eleni Gerontiti, Almog Shalit, Katerina Stefanaki, Paraskevi Kazakou, Dimitrios S Karagiannakis, Melpomeni Peppa, Theodora Psaltopoulou, Stavroula A Paschou","doi":"10.1007/s42000-024-00566-7","DOIUrl":"10.1007/s42000-024-00566-7","url":null,"abstract":"<p><p>The increasing prevalence of type 2 diabetes mellitus (T2DM) and its microvascular and macrovascular complications necessitate an optimal approach to prevention and management. Medical nutrition therapy serves as the cornerstone of diabetes care, reducing reliance on diabetic medications for glycemic control and mitigating cardiovascular risk. The broadening field of research in the effect of low glycemic index (GI) and/or glycemic load (GL) diets on individuals with T2DM has yielded promising results in the existing literature. Adopting low-GI and GL dietary patterns contributes to minimizing fluctuations in blood glucose levels, thus presenting a good strategy for achieving enhanced glycemic control. Furthermore, the above dietary practices may offer a viable alternative and practical approach to weight management in individuals with T2DM. However, clinical practice guidelines for diabetes dietary management show inconsistency regarding the certainty of evidence supporting the implementation of low-GI/GL nutritional patterns. This review aims to thoroughly evaluate the available data on the effectiveness of low-GI and low-GL diets in managing glycemic control and reducing cardiovascular risk factors.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":"655-665"},"PeriodicalIF":2.4,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11519289/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140945551","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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
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