Best practice & research. Clinical endocrinology & metabolism最新文献_第6页

Update on clinical characteristics in the evaluation of phaeochromocytoma and paraganglioma 评估嗜铬细胞瘤和副神经节瘤临床特征的最新进展。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-12-01 DOI: 10.1016/j.beem.2024.101953

Annika M.A. Berends (Nephrologist and Endocrinologist) , Jacques W.M. Lenders (Vascular Medicine Specialist) , Michiel N. Kerstens (Endocrinologist)

{"title":"Update on clinical characteristics in the evaluation of phaeochromocytoma and paraganglioma","authors":"Annika M.A. Berends (Nephrologist and Endocrinologist) , Jacques W.M. Lenders (Vascular Medicine Specialist) , Michiel N. Kerstens (Endocrinologist)","doi":"10.1016/j.beem.2024.101953","DOIUrl":"10.1016/j.beem.2024.101953","url":null,"abstract":"<div><div>Pheochromocytomas and sympathetic paragangliomas (PPGL) are rare neuroendocrine tumors originating from chromaffin tissue of the adrenal medulla and extra-adrenal sympathetic paraganglia. Historically, many of these tumors were diagnosed postmortem, earning pheochromocytomas the moniker \"great mimic\" due to their diverse clinical manifestations that can resemble various other conditions. Over time, the clinical presentation of PPGL has evolved, with a shift from symptomatic or postmortem diagnoses to more frequent incidental discoveries or diagnoses through screening, with postmortem identification now being rare. The development of a clinical scoring system has improved the identification of patients at increased risk for PPGL. Notably, the proportion of PPGL patients with normal blood pressure ranges from 15 % to 40 %, varying based on the clinical context. Despite the tumor's reputation, PPGL is an exceedingly rare cause of resistant hypertension. Management of a pheochromocytoma crisis has advanced, with several classes of drugs available for treatment. However, PPGL during pregnancy remains a significant concern, associated with substantial maternal and fetal mortality rates. Additionally, PPGL can present as rare disorders, including catecholamine-induced cardiomyopathy, Cushing syndrome, and urinary bladder PGL. Given these varied presentations, heightened awareness and prompt recognition of PPGL are crucial for timely diagnosis and treatment, ultimately improving patient outcomes. In this article, we offer an in-depth analysis of the diverse clinical presentations of PPGL, highlighting their complexity and the associated diagnostic and treatment strategies.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"38 6","pages":"Article 101953"},"PeriodicalIF":6.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142395881","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Recent progress in the pathologic classification of pheochromocytomas and paragangliomas 嗜铬细胞瘤和副神经节瘤病理分类的最新进展。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-12-01 DOI: 10.1016/j.beem.2024.101958

Ozgur Mete (Professor) , C. Christofer Juhlin (Associate Professor)

{"title":"Recent progress in the pathologic classification of pheochromocytomas and paragangliomas","authors":"Ozgur Mete (Professor) , C. Christofer Juhlin (Associate Professor)","doi":"10.1016/j.beem.2024.101958","DOIUrl":"10.1016/j.beem.2024.101958","url":null,"abstract":"<div><div>Pheochromocytomas and paragangliomas (PPGLs) represent a unique subset of neuroendocrine neoplasms (NENs) characterized by their genetic diversity and potential for catecholamine secretion. Similar to epithelial NENs, all PPGLs are classified as malignant neoplasms that are associated with a variable risk of metastatic spread. PPGLs arise from neuroendocrine cells of the adrenal medulla (intra-adrenal paraganglia) or extra-adrenal paraganglia. Advances over the past two decades have significantly enhanced our understanding of the biological and genetic underpinnings of these neoplasms, resulting in robust genotype-phenotype (e.g., morphology, anatomic distribution, catecholamine profile, biomarker profile, risk of metastasis) correlations that guide diagnosis and prognostication. The 2022 WHO classification of PPGLs emphasizes a shift away from morphology-only diagnostic approaches by ensuring the integration of morphology with functional, structural and pathogenesis-related biomarker studies into routine pathology practice when assessing PPGLs. This paradigm is critical in distinguishing metastatic disease from multifocal primary tumors, particularly in patients with germline mutations – a hallmark of PPGLs, with germline susceptibility observed in at least 40 % of cases. This review provides practicing pathologists with a concise update on modern diagnostic and risk assessment strategies for PPGLs, focusing on the integration of biomarkers, genetic profiling, and morphological features. It also addresses emerging challenges, such as identifying metastatic potential and distinguishing these from synchronous lesions, to improve multidisciplinary care of these patients.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"38 6","pages":"Article 101958"},"PeriodicalIF":6.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142752422","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Metabolomics and proteomics in pheochromocytoma and paraganglioma: Translating biochemistry and biology to bedside 嗜铬细胞瘤和副神经节瘤的代谢组学和蛋白质组学：将生物化学和生物学应用于临床。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-12-01 DOI: 10.1016/j.beem.2024.101935

Jiri Petrak (Biologist) , Sergei G. Tevosian (Biologist) , Susan Richter (Biologist) , Hans K. Ghayee (Endocrinologist)

引用次数: 0

Current views on the role of HIF-2α in the pathogenesis and syndromic presentation of pheochromocytoma and paraganglioma 关于 HIF-2α 在嗜铬细胞瘤和副神经节瘤的发病机制和综合征表现中的作用的当前观点。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-12-01 DOI: 10.1016/j.beem.2024.101955

Nicole Bechmann (Scientist) , Jared S. Rosenblum (Special Volunteer) , Ali S. Alzahrani (Consultant Endocrinologist)

{"title":"Current views on the role of HIF-2α in the pathogenesis and syndromic presentation of pheochromocytoma and paraganglioma","authors":"Nicole Bechmann (Scientist) , Jared S. Rosenblum (Special Volunteer) , Ali S. Alzahrani (Consultant Endocrinologist)","doi":"10.1016/j.beem.2024.101955","DOIUrl":"10.1016/j.beem.2024.101955","url":null,"abstract":"<div><div>Pathogenic variants (PVs) in <em>EPAS1,</em> which encodes hypoxia-inducible factor-2α (HIF-2α), could be the underlying genetic cause of about 3%−6% of pheochromocytoma and paragangliomas (PPGLs). <em>EPAS1</em>-related PPGLs may occur as isolated tumors or as part of Pacak-Zhuang Syndrome (PZS) with two or more of a triad of PPGL, polycythemia, and somatostatinoma. HIF-2α plays a critical role in the regulation of the cellular hypoxia pathway. When a gain-of-function PV is acquired, HIF-2α evades steady-state hydroxylation by the prolyl hydroxylase type 2 (PHD2), which accelerates von Hippel-Lindau (VHL)-mediated proteasomal degradation. In this situation, HIF-2α is stabilized and can translocate to the nucleus, inducing the expression of several genes involved in tumorigenesis. This leads to the development of PPGL and other manifestations of PZS. <em>EPAS1</em>-related PPGLs usually occur in the second or third decade of life, more frequently in females, and are usually multiple, adrenal and extra-adrenal, and norepinephrine-secreting. In addition, these tumors carry an increased metastatic potential and have been reported with metastatic disease in up to 30% of cases. While polycythemia is fairly common in PZS, somatostatinomas are rare. It has been suggested that the character of the acquired PV in <em>EPAS1,</em> which affects its binding to PHD2, correlates with certain phenotypes in PZS. PVs in <em>EPAS1</em> that have been found in related sporadic PPGLs have also been associated with hypoxic conditions including cyanotic congenital heart disease, hemoglobinopathies and high altitude. Understanding the hypoxia pathway and its role in the pathogenesis of PPGL may open a new avenue for developing effective therapies for these tumors. Indeed, one of these therapies is Belzutifan, a HIF-2α inhibitor that is being tested in the treatment of metastatic PPGLs.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"38 6","pages":"Article 101955"},"PeriodicalIF":6.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142482862","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

The implications of hormone treatment for cancer risk, screening and treatment in transgender individuals 激素治疗对变性人患癌风险、筛查和治疗的影响。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-09-01 DOI: 10.1016/j.beem.2024.101909

引用次数: 0

Testosterone-induced erythrocytosis in transgender males: Challenges arising from an increasing prevalence of metabolic syndrome and wider therapeutic indications for prescribing SGLT2 inhibitor drugs 变性男性睾酮诱发的红细胞增多症：代谢综合征发病率上升带来的挑战以及 SGLT2 抑制剂药物处方治疗适应症的扩大。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-09-01 DOI: 10.1016/j.beem.2024.101930

Azmi Mohammed (Endocrinologist) , Yaasir H. Mamoojee (Endocrinologist) , Richard Quinton (Endocrinologist)

引用次数: 0

Gender-affirming hormone treatment modalities for transfemale & non-binary transfeminine individuals: A UK perspective 针对变性女性和非二元变性女性的性别确认激素治疗模式：英国视角。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-09-01 DOI: 10.1016/j.beem.2024.101921

Rebecca C. Sagar (Academic Clinical Lecturer and Honorary Specialist Registrar in Endocrinology) , Victoria Millson-Brown (Consultant Endocrinologist)

{"title":"Gender-affirming hormone treatment modalities for transfemale & non-binary transfeminine individuals: A UK perspective","authors":"Rebecca C. Sagar (Academic Clinical Lecturer and Honorary Specialist Registrar in Endocrinology) , Victoria Millson-Brown (Consultant Endocrinologist)","doi":"10.1016/j.beem.2024.101921","DOIUrl":"10.1016/j.beem.2024.101921","url":null,"abstract":"<div><p>Gender incongruence and the number of people seeking gender affirming hormone treatment has dramatically risen in the last two decades. In the UK, transgender women and non-binary transfeminine individuals are typically treated with simultaneous suppression of endogenous testosterone production through anti-androgens and exogenous oestradiol replacement. Oestrogen replacement comes in different forms and is primarily given as transdermal (gel or patch) or oral preparations in the UK. Decisions around preparation choice are based on a combination of individual preference and/or mitigating the chance of complications based on individual risk profiles. Time frames to achieve female physical changes are largely predictable and managing expectations of individuals prior to commencing treatment is highly important. Common complications include venous thromboembolism, liver dysfunction and effects on fertility, thus individuals should be thoroughly counselled prior to commencing treatment. This article provides an overview of the management and considerations of gender-affirming hormone treatment in transgender women and non-binary transfeminine individuals.</p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"38 5","pages":"Article 101921"},"PeriodicalIF":6.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521690X24000757/pdfft?md5=54468a8b1e776408fb77978d3bcbacc2&pid=1-s2.0-S1521690X24000757-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142134738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Clinical considerations and endocrinological implications in the detransition process 脱胎换骨过程中的临床考虑因素和内分泌学影响。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-09-01 DOI: 10.1016/j.beem.2024.101932

Laura Charlton (Clinical Lead/Consultant Clinical Psychologist) , Ruth Bond (GP with special interest in Gender Dysphoria)

{"title":"Clinical considerations and endocrinological implications in the detransition process","authors":"Laura Charlton (Clinical Lead/Consultant Clinical Psychologist) , Ruth Bond (GP with special interest in Gender Dysphoria)","doi":"10.1016/j.beem.2024.101932","DOIUrl":"10.1016/j.beem.2024.101932","url":null,"abstract":"<div><p>Detransition, the process of reverting to one’s gender assigned at birth after a period of transition, or moving away from the original transition goal, presents unique challenges in healthcare. This paper introduces the clinical issue and provides a comprehensive overview of the ethical, psychological, legal, surgical, and endocrinological considerations involved in supporting individuals who choose to detransition. It emphasises the importance of patient-centred care, informed consent, and the need for expanded research to address the specific needs of this population. The paper highlights the complexities of endocrine management, surgical reversals, and the necessity for comprehensive support systems. Key psychotherapeutic interventions, including trauma-focused Cognitive Behavioural Therapy (CBT), Eye Movement Desensitization and Reprocessing (EMDR), and third-wave approaches like Compassion-Focused Therapy (CFT), are recommended to manage associated trauma and shame. By adopting a holistic approach, healthcare providers can better assist individuals navigating the complexities of detransition.</p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"38 5","pages":"Article 101932"},"PeriodicalIF":6.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142147065","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Metabolic and cardiovascular risks of hormone treatment for transgender individuals 变性人接受激素治疗的代谢和心血管风险。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-09-01 DOI: 10.1016/j.beem.2024.101907

{"title":"Metabolic and cardiovascular risks of hormone treatment for transgender individuals","authors":"","doi":"10.1016/j.beem.2024.101907","DOIUrl":"10.1016/j.beem.2024.101907","url":null,"abstract":"<div><p>Identifying metabolic and cardiovascular risks of gender-affirming hormone therapy (GAHT) is challenging due to other confounding variables that affect patient outcomes and the diversity of treatment regimes. Masculinising hormone therapy produces atherogenic lipid profiles, while effects on other metabolic parameters are not consistent. There is insufficient evidence to conclude if cardiovascular disease risk among transmen is increased. The effects of feminising hormone therapy on metabolic parameters do not demonstrate a consistent pattern in the available literature. However, the risk of venous thromboembolism is greater in transwomen than in cis-gender men and women with a possible increase in cardiovascular disease risk. It is recommended to discuss the potential effects of GAHT on cardiovascular health and encourage patients seeking GAHT to adopt a healthy lifestyle. Performing baseline and periodic assessments of cardiovascular risk factors would enable early identification and interventions. In high-risk individuals, the cardiovascular effects of hormonal regimes might impact the treatment decision.</p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"38 5","pages":"Article 101907"},"PeriodicalIF":6.1,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521690X24000617/pdfft?md5=b527309d0293b6e0c81e36d80cdd71af&pid=1-s2.0-S1521690X24000617-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141473455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"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

Testosterone and other treatments for transgender males and non-binary trans masculine individuals 针对变性男性和非二元变性男性的睾丸激素和其他治疗方法。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-09-01 DOI: 10.1016/j.beem.2024.101908

引用次数: 0