Best practice & research. Clinical endocrinology & metabolism最新文献_第5页

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)

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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

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

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

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

Transgender 变性人

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-09-01 DOI: 10.1016/j.beem.2024.101933

Peter Hammond (Consultant Endocrinologist and Endocrinology Lead for the Leeds Regional Gender Identity Service)

引用次数: 0

Best practice and research, clinical endocrinology and metabolism preface to the special issue: Diagnosis and treatment of acromegaly acromegaly, a paradigmatic disease second part: Treatment 最佳实践与研究，临床内分泌学与新陈代谢》特刊序言：肢端肥大症的诊断和治疗肢端肥大症，一种典型疾病第二部分：治疗。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-07-01 DOI: 10.1016/j.beem.2024.101912

引用次数: 0

Surgical outcomes in patients with acromegaly: Microscopic vs. endoscopic transsphenoidal surgery 肢端肥大症患者的手术效果：显微镜与内窥镜经蝶手术

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-07-01 DOI: 10.1016/j.beem.2024.101879

{"title":"Surgical outcomes in patients with acromegaly: Microscopic vs. endoscopic transsphenoidal surgery","authors":"","doi":"10.1016/j.beem.2024.101879","DOIUrl":"10.1016/j.beem.2024.101879","url":null,"abstract":"<div><p>Transsphenoidal resection of growth hormone-secreting pituitary neuroendocrine tumors remains the first-line treatment for acromegaly. This can be performed through microsurgery or endoscopic surgery. For the past decades, endoscopic surgery has become the preferred technique in an increasing number of centers worldwide. However, whether it offers superior clinical outcomes has yet to be determined. In this paper, we performed a narrative review of the literature comparing both techniques in the treatment of acromegaly. We critically assessed available comparative studies from an objective perspective to determine their suitability for defining superiority of either technique. Available evidence displays substantial methodological variations and reports conflicting findings. Although endoscopic surgery provides a wider exposure and enhanced visibility of the surgical field, this does not consistently translate into better clinical outcomes, as most tumors are equally accessible through both techniques. Postoperative outcomes such as remission and complication rates are similar between both techniques. The management of acromegaly should be performed by experienced pituitary neurosurgeons, regardless of the approach. The involvement of a multidisciplinary team in a dedicated pituitary center is critical to ensure optimal outcomes.</p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"38 4","pages":"Article 101879"},"PeriodicalIF":6.1,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521690X24000216/pdfft?md5=cf28ee3a084f6bbf314196a15e16ae91&pid=1-s2.0-S1521690X24000216-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139873025","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