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Best practice & research. Clinical endocrinology & metabolism最新文献

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Factitious endocrinopathies: Thyrotoxicosis. 人为内分泌疾病：甲状腺毒症。
Best practice & research. Clinical endocrinology & metabolism Pub Date : 2026-10-07 DOI: 10.1016/j.beem.2026.102173
Elizabeth N Pearce
{"title":"Factitious endocrinopathies: Thyrotoxicosis.","authors":"Elizabeth N Pearce","doi":"10.1016/j.beem.2026.102173","DOIUrl":"https://doi.org/10.1016/j.beem.2026.102173","url":null,"abstract":"<p><p>Factitious thyrotoxicosis is the presence of excess circulating thyroid hormone from an exogenous source. It can be iatrogenic or it can occur due to intentional thyroid hormone misuse or abuse. It can also occur due to accidental ingestion, pharmacy error, or inadvertent exposure to unlabeled thyroid hormone in supplements or contaminated hamburger meat. Consequences range from mild thyrotoxic symptoms to more serious or life-threatening sequelae including thyrotoxic periodic paralysis, seizure, coma, arrhythmias, myocardial infarction, and thyroid storm. If unclear from the history, differentiating factitious thyrotoxicosis from other etiologies of thyroid hormone excess is challenging, and may require radioactive iodine uptake and serum thyroglobulin testing. In most cases, treatment simply consists of stopping the exogenous thyroid hormone exposure with subsequent monitoring. However, in cases of massive acute poisoning with thyroid hormone, gastric decontamination strategies and inpatient care in a monitored setting with measures to reduce circulating T3 levels may be needed.</p>","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"102173"},"PeriodicalIF":0.0,"publicationDate":"2026-10-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149186561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
HeteroGeNETics: Neuroendocrine tumor genetics reflect their heterogeneous complex diversity. 异质性：神经内分泌肿瘤遗传学反映了其异质性复杂的多样性。
Best practice & research. Clinical endocrinology & metabolism Pub Date : 2026-08-18 DOI: 10.1016/j.beem.2026.102156
Laura Gutiérrez-Camacho, Clara González-Pérez, Daniel Ruiz-Palacios, Francisco Quiñonero, Alejandro Ibáñez-Costa, Justo P Castaño, Sergio Pedraza-Arevalo
{"title":"HeteroGeNETics: Neuroendocrine tumor genetics reflect their heterogeneous complex diversity.","authors":"Laura Gutiérrez-Camacho, Clara González-Pérez, Daniel Ruiz-Palacios, Francisco Quiñonero, Alejandro Ibáñez-Costa, Justo P Castaño, Sergio Pedraza-Arevalo","doi":"10.1016/j.beem.2026.102156","DOIUrl":"https://doi.org/10.1016/j.beem.2026.102156","url":null,"abstract":"<p><p>Neuroendocrine neoplasms (NENs) comprise a diverse group of malignancies arising across multiple anatomical sites and displaying remarkable biological and clinical heterogeneity. While advances in sequencing have identified recurrent genetic alterations in several NEN subtypes, these tumors remain largely characterized by a relatively low mutational burden and lack of dominant oncogenic drivers. Consequently, emerging evidence suggests that the molecular basis of neuroendocrine tumorigenesis extends beyond individual mutations and involves broader processes such as chromatin remodeling, telomere maintenance, epigenetic dysregulation and cellular plasticity. This review aims to summarize the current molecular landscape of pulmonary, gastro-enteropancreatic and thymic NENs, focusing on the biological pathways and cellular programs disrupted by recurrent genetic alterations unrelated to syndromes. We discuss how multi-omic studies have refined molecular classification and revealed common principles underlying neuroendocrine tumor development. Collectively, recent literature supports a shift from mutation-centered models toward a more integrated understanding of the complex biology and evolution of NENs.</p>","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"102156"},"PeriodicalIF":0.0,"publicationDate":"2026-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148908302","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Rare genetic endocrine tumor syndromes: VHL, NF1, TSC, and Carney complex. 罕见的遗传性内分泌肿瘤综合征：VHL、NF1、TSC和Carney复合物。
Best practice & research. Clinical endocrinology & metabolism Pub Date : 2026-08-18 DOI: 10.1016/j.beem.2026.102159
Dionysios N Vrachnis, Constantine A Stratakis
{"title":"Rare genetic endocrine tumor syndromes: VHL, NF1, TSC, and Carney complex.","authors":"Dionysios N Vrachnis, Constantine A Stratakis","doi":"10.1016/j.beem.2026.102159","DOIUrl":"https://doi.org/10.1016/j.beem.2026.102159","url":null,"abstract":"<p><p>Von Hippel-Lindau disease, neurofibromatosis type 1, tuberous sclerosis complex, and Carney complex are inherited disorders associated with an increased risk of developing multiple tumors in both endocrine and non-endocrine organs. Although each syndrome results from different genetic alterations, all are transmitted in an autosomal dominant manner (or occur de novo) and show considerable variability in their clinical presentation. Endocrine manifestations include pheochromocytomas, paragangliomas, neuroendocrine tumors, adrenocortical lesions, and pituitary disease. Recognizing these syndromes is important, as it allows appropriate surveillance, identification of affected family members, and the use of targeted treatments when available. In this review, we discuss the genetic basis, clinical manifestations, and current management of these disorders, with particular attention to their endocrine features and recent therapeutic developments in a practical and accessible manner for endocrinologists involved in the care of these patients.</p>","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"102159"},"PeriodicalIF":0.0,"publicationDate":"2026-08-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148803020","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic endocrine tumors focusing on the thyroid. 以甲状腺为主的遗传性内分泌肿瘤。
Best practice & research. Clinical endocrinology & metabolism Pub Date : 2026-08-16 DOI: 10.1016/j.beem.2026.102158
Sara P Ginzberg, Jennine H D Weller, Catherine M Skefos, Nancy D Perrier
{"title":"Genetic endocrine tumors focusing on the thyroid.","authors":"Sara P Ginzberg, Jennine H D Weller, Catherine M Skefos, Nancy D Perrier","doi":"10.1016/j.beem.2026.102158","DOIUrl":"https://doi.org/10.1016/j.beem.2026.102158","url":null,"abstract":"<p><p>Heritable thyroid tumors represent a clinically important subset of endocrine neoplasms, accounting for approximately 3-9% of well-differentiated thyroid cancers and 25% of medullary thyroid cancers. In patients presenting with a new thyroid malignancy, recognition of an underlying hereditary cancer predisposition syndrome has important implications for management, surveillance for associated malignancies, and testing of at-risk relatives. This review summarizes the epidemiology, clinical presentation, histopathologic features, management, and surveillance recommendations for hereditary thyroid tumors in the setting of familial non-medullary thyroid cancer, multiple endocrine neoplasia type 2, familial adenomatous polyposis, Cowden syndrome, Li-Fraumeni syndrome, DICER1 syndrome, CHEK2-related cancer predisposition, and Carney complex. In the future, continued research is needed to better understand genotype-phenotype correlations, optimize surveillance strategies, and improve risk stratification to enable more personalized care for patients and families affected by these conditions.</p>","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"102158"},"PeriodicalIF":0.0,"publicationDate":"2026-08-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148802941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Multiple endocrine neoplasia type 2: From molecular genetics to precision therapy. 2型多发性内分泌瘤：从分子遗传学到精准治疗。
Best practice & research. Clinical endocrinology & metabolism Pub Date : 2026-06-08 DOI: 10.1016/j.beem.2026.102135
Daniel Bulzico, Elisa Lamback, Catherine Skefos, Camilo Jimenez
{"title":"Multiple endocrine neoplasia type 2: From molecular genetics to precision therapy.","authors":"Daniel Bulzico, Elisa Lamback, Catherine Skefos, Camilo Jimenez","doi":"10.1016/j.beem.2026.102135","DOIUrl":"https://doi.org/10.1016/j.beem.2026.102135","url":null,"abstract":"<p><p>Multiple endocrine neoplasia type 2 is an autosomal dominant hereditary syndrome characterized by a predisposition to medullary thyroid carcinoma and pheochromocytoma. The discovery of the RET proto-oncogene as the molecular driver of this syndrome has revolutionized the management of this disease, enabling presymptomatic diagnosis of medullary thyroid carcinoma, which leads to prophylactic thyroidectomy, screening for pheochromocytomas, and the discovery of systemic therapies that control advanced disease. This article reviews genotype-phenotype correlations, clinical manifestations, and current therapeutic strategies, including the use of selective tyrosine kinase inhibitors. In addition, we propose an algorithm for the treatment of advanced medullary thyroid carcinoma and metastatic pheochromocytoma.</p>","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"102135"},"PeriodicalIF":0.0,"publicationDate":"2026-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148260909","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genetic endocrine tumours focusing on pituitary tumours. 以垂体肿瘤为主的遗传内分泌肿瘤。
Best practice & research. Clinical endocrinology & metabolism Pub Date : 2026-04-15 DOI: 10.1016/j.beem.2026.102102
Erik Bényei, Federica Begalli, Márta Korbonits
{"title":"Genetic endocrine tumours focusing on pituitary tumours.","authors":"Erik Bényei, Federica Begalli, Márta Korbonits","doi":"10.1016/j.beem.2026.102102","DOIUrl":"https://doi.org/10.1016/j.beem.2026.102102","url":null,"abstract":"<p><p>Pituitary neuroendocrine tumours (PitNETs) are among the most common intracranial neoplasms. The majority arise sporadically; however, a small but clinically highly significant subset develops as a consequence of germline mutations. The aim of this review is to provide a categorical and comprehensive summary of the most relevant clinical and molecular aspects of germline alterations that lead to pituitary tumorigenesis either in isolated form or as part of complex hereditary tumour syndromes. In recent years, several classical tumour predisposition syndromes traditionally not associated with endocrine manifestations have been linked to PitNET formation. By reviewing these disorders in addition to novel germline mutations of emerging significance we aim to outline the rapidly expanding spectrum of hereditary conditions implicated in pituitary tumorigenesis. Within the context of the otherwise sparse sporadic landscape of PitNETs, we briefly discuss potential driver mutations implicated in tumour development.</p>","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"102102"},"PeriodicalIF":0.0,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147792016","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Germline and somatic genetic drivers of adrenocortical tumours. 肾上腺皮质肿瘤的生殖系和体细胞遗传驱动因素。
Best practice & research. Clinical endocrinology & metabolism Pub Date : 2026-03-18 DOI: 10.1016/j.beem.2026.102099
Lucas Bouys, Jérôme Bertherat
{"title":"Germline and somatic genetic drivers of adrenocortical tumours.","authors":"Lucas Bouys, Jérôme Bertherat","doi":"10.1016/j.beem.2026.102099","DOIUrl":"https://doi.org/10.1016/j.beem.2026.102099","url":null,"abstract":"<p><p>Adrenal tumours affect 1-4% of the population, with a prevalence increasing with age, tumours arising from the adrenal cortex being the most frequent, unlike the adrenomedullary tumours. Adrenocortical tumours are defined by their benign or malignant potential, and unilateral or bilateral, hormone-producing or non-functioning nature. As any tumoral formation, all adrenocortical tumours are clonal proliferations driven by genetic events, whether by a germline predisposition or by somatic alterations. By summarizing the genetic findings of the last 30 years of adrenocortical research, this review covers both the known germline causes of inherited bilateral nodular adrenocortical diseases, familial forms of hyperaldosteronism and adrenocortical carcinomas, and the somatic variants and copy-number variations found in sporadic adrenocortical adenomas and carcinomas, emphasizing on the signalling pathways involved. It also gives practical recommendations for genetic screening in routine clinical practice and clues for future research on the genetic basis of adrenocortical tumorigenesis.</p>","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":" ","pages":"102099"},"PeriodicalIF":0.0,"publicationDate":"2026-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147517542","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Autoimmune Addison's disease. 自身免疫性艾迪生病。
Best practice & research. Clinical endocrinology & metabolism Pub Date : 2020-01-01 DOI: 10.1056/nejm196312122692422
Serena Saverino, A. Falorni
{"title":"Autoimmune Addison's disease.","authors":"Serena Saverino, A. Falorni","doi":"10.1056/nejm196312122692422","DOIUrl":"https://doi.org/10.1056/nejm196312122692422","url":null,"abstract":"Primary adrenal insufficiency (PAI) occurs in 1/5000-1/7000 individuals in the general population. Autoimmune Addison's disease (AAD) is the major cause of PAI and is a major component of autoimmune polyendocrine syndrome type 1 (APS1) and type 2 (APS2). Presence of 21-hydroxylase autoantibodies (21OHAb) identifies subjects with ongoing clinical or pre-clinical adrenal autoimmunity. AAD requires life-long substitutive therapy with two-three daily doses of hydrocortisone (HC) (15-25 mg/day) or one daily dose of dual-release HC and with fludrocortisone (0.5-2.0 mg/day). The lowest possible HC dose must be identified according to clinical and biochemical parameters to minimize long-term complications that include osteoporosis and cardiovascular and metabolic alterations. Women with AAD have lower fertility and parity as compared to age-matched healthy controls. Patients must be educated to double-triple HC dose in the case of fever or infections and to switch to parenteral HC in the case of vomiting, diarrhoea or acute hypotension.","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"1 1","pages":"101379"},"PeriodicalIF":0.0,"publicationDate":"2020-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1056/nejm196312122692422","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42725642","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 10
Puberty. 青春期。
Best practice & research. Clinical endocrinology & metabolism Pub Date : 2019-02-15 DOI: 10.1002/9781119386230.ch5
M. Zacharin
{"title":"Puberty.","authors":"M. Zacharin","doi":"10.1002/9781119386230.ch5","DOIUrl":"https://doi.org/10.1002/9781119386230.ch5","url":null,"abstract":"","PeriodicalId":93894,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"1 1","pages":"101301"},"PeriodicalIF":0.0,"publicationDate":"2019-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1002/9781119386230.ch5","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43739674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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