Best practice & research. Clinical endocrinology & metabolism最新文献_第3页

Genetic diagnosis in acromegaly and gigantism: From research to clinical practice 肢端肥大症和巨人症的基因诊断：从研究到临床实践

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-05-01 DOI: 10.1016/j.beem.2024.101892

Claudia Ramírez-Rentería (Associate Researcher) , Laura C. Hernández-Ramírez (Associate Researcher)

{"title":"Genetic diagnosis in acromegaly and gigantism: From research to clinical practice","authors":"Claudia Ramírez-Rentería (Associate Researcher) , Laura C. Hernández-Ramírez (Associate Researcher)","doi":"10.1016/j.beem.2024.101892","DOIUrl":"10.1016/j.beem.2024.101892","url":null,"abstract":"<div><p>It is usually considered that only 5% of all pituitary neuroendocrine tumours are due to inheritable causes. Since this estimate was reported, however, multiple genetic defects driving syndromic and nonsyndromic somatotrophinomas have been unveiled. This heterogeneous genetic background results in overlapping phenotypes of GH excess. Genetic tests should be part of the approach to patients with acromegaly and gigantism because they can refine the clinical diagnoses, opening the possibility to tailor the clinical conduct to each patient. Even more, genetic testing and clinical screening of at-risk individuals have a positive impact on disease outcomes, by allowing for the timely detection and treatment of somatotrophinomas at early stages. Future research should focus on determining the actual frequency of novel genetic drivers of somatotrophinomas in the general population, developing up-to-date disease-specific multi-gene panels for clinical use, and finding strategies to improve access to modern genetic testing worldwide.</p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":null,"pages":null},"PeriodicalIF":7.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S1521690X24000460/pdfft?md5=1e62c7b71ee04006e4fb1c03b242b7f5&pid=1-s2.0-S1521690X24000460-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140150263","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

Histopathology of growth hormone-secreting pituitary tumors: State of the art and new perspectives 分泌生长激素的垂体瘤的组织病理学：最新技术和新视角

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-05-01 DOI: 10.1016/j.beem.2024.101894

Federica Guaraldi (Neuroendocrinologist) , Francesca Ambrosi (Surgical Pathologist) , Costantino Ricci (Surgical Pathologist) , Luisa Di Sciascio (Surgical Pathologist) , Sofia Asioli (Neuropathologist)

{"title":"Histopathology of growth hormone-secreting pituitary tumors: State of the art and new perspectives","authors":"Federica Guaraldi (Neuroendocrinologist) , Francesca Ambrosi (Surgical Pathologist) , Costantino Ricci (Surgical Pathologist) , Luisa Di Sciascio (Surgical Pathologist) , Sofia Asioli (Neuropathologist)","doi":"10.1016/j.beem.2024.101894","DOIUrl":"10.1016/j.beem.2024.101894","url":null,"abstract":"<div><p>Somatotroph (GH) adenomas/PitNETs typically arise from adenohypophysis and are biochemically active, leading to acromegaly and gigantism. More rarely, they present with ectopic origin and do not present overt biochemical or clinical features (silent variants). Histopathological examination should consider the clinical and radiological background, and include multiple steps assessing tumor morphology, pituitary transcription factors (PTFs), hormone secretion, proliferation markers, granulation, and somatostatin receptors (STRs), aimed at depicting as better as possible tumor origin (in case of non-functioning and/or metastatic tumor), and clinical behavior, including response to treatment. GH-secreting tumors are part of the Pit-1 family tumors and can secrete GH only (pure somatotrophs) or co-secrete prolactin (mixed tumors; in this case, various histological subtypes have been identified). Each subtype presents unique radiological, biochemical, and clinical characteristic. Therefore, the integration of biochemical, clinical, radiological, and histopathological elements is fundamental for proper diagnosis and management of pituitary adenomas/PitNETs, to be performed in referral Centers. In more recent times, the importance of genetic and epigenetic evaluation in the characterization of pituitary tumors (i.e., early identification of aggressive variants) has been outlined by some large studies, with the intention of improving targeted treatments.</p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":null,"pages":null},"PeriodicalIF":7.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140580038","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

Preface to the Special issue: Diagnosis and treatment of acromegaly, a paradigmatic disease 特刊序言：肢端肥大症的诊断与治疗肢端肥大症是一种典型的疾病

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-05-01 DOI: 10.1016/j.beem.2024.101897

Moisés Mercado

引用次数: 0

The molecular biology of sporadic acromegaly 散发性肢端肥大症的分子生物学研究

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-05-01 DOI: 10.1016/j.beem.2024.101895

Daniel Marrero-Rodríguez (Associate Researcher), Alberto Moscona-Nissan, Jessica Sidauy-Adissi, Fabian Haidenberg-David, Esbeydi Jonguitud-Zumaya, Leonel de Jesus Chávez-Vera, Florencia Martinez-Mendoza, Keiko Taniguchi-Ponciano (Associate Researcher), Moises Mercado (Endocrinologist, Full Professor)

{"title":"The molecular biology of sporadic acromegaly","authors":"Daniel Marrero-Rodríguez (Associate Researcher), Alberto Moscona-Nissan, Jessica Sidauy-Adissi, Fabian Haidenberg-David, Esbeydi Jonguitud-Zumaya, Leonel de Jesus Chávez-Vera, Florencia Martinez-Mendoza, Keiko Taniguchi-Ponciano (Associate Researcher), Moises Mercado (Endocrinologist, Full Professor)","doi":"10.1016/j.beem.2024.101895","DOIUrl":"10.1016/j.beem.2024.101895","url":null,"abstract":"<div><p>GH-secreting tumors represent 15 % to 20 % of all pituitary neuroendocrine tumors (pitNETs), of which 95 % occur in a sporadic context, without an identifiable inherited cause. Recent multi-omic approaches have characterized the epigenomic, genomic, transcriptomic, proteomic and kynomic landscape of pituitary tumors. Transcriptomic analysis has allowed us to discover specific transcription factors driving the differentiation of pituitary tumors and gene expression patterns. GH-secreting, along with PRL- and TSH-secreting pitNETs are driven by POU1F1; ACTH-secreting tumors are determined by TBX19; and non-functioning tumors, which are predominantly of gonadotrope differentiation are conditioned by NR5A1. Upregulation of certain miRNAs, such as miR-107, is associated with tumor progression, while downregulation of others, like miR-15a and miR-16–1, correlates with tumor size reduction. Additionally, miRNA expression profiles are linked to treatment resistance and clinical outcomes, providing insights into potential therapeutic targets. Specific somatic mutations in <em>GNAS</em>, <em>PTTG1</em>, <em>GIPR</em>, <em>HGMA2</em>, <em>MAST</em> and somatic variants associated with cAMP, calcium signaling, and ATP pathways have also been associated with the development of acromegaly. This review focuses on the oncogenic mechanisms by which sporadic acromegaly can develop, covering a complex series of molecular alterations that ultimately alter the balance between proliferation and apoptosis, and dysregulated hormonal secretion.</p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":null,"pages":null},"PeriodicalIF":7.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140609066","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

The clinical and biochemical spectrum of ectopic acromegaly 异位肢端肥大症的临床和生化谱系

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-05-01 DOI: 10.1016/j.beem.2024.101877

Patricia Fainstein-Day (Associate Physician, Professor and Investigator) , Tamara Estefanía Ullmann (Associate Physician) , Mercedes Corina Liliana Dalurzo (Associate Physician) , Gustavo Emilio Sevlever (Director, Teaching, Investigator) , David Eduardo Smith (Staff Surgeon)

{"title":"The clinical and biochemical spectrum of ectopic acromegaly","authors":"Patricia Fainstein-Day (Associate Physician, Professor and Investigator) , Tamara Estefanía Ullmann (Associate Physician) , Mercedes Corina Liliana Dalurzo (Associate Physician) , Gustavo Emilio Sevlever (Director, Teaching, Investigator) , David Eduardo Smith (Staff Surgeon)","doi":"10.1016/j.beem.2024.101877","DOIUrl":"10.1016/j.beem.2024.101877","url":null,"abstract":"<div><p>Ectopic acromegaly is a rare condition caused by extrapituitary central or peripheral neuroendocrine tumours (NET) that hypersecrete GH or, more commonly, GHRH. It affects less than 1% of acromegaly patients and a misdiagnosis of classic acromegaly can lead to an inappropriate pituitary surgery. Four types of ectopic acromegaly have been described: 1) Central ectopic GH-secretion: Careful cross-sectional imaging is required to exclude ectopic pituitary adenomas. 2) Peripheral GH secretion: Extremely rare. 3) Central ectopic GHRH secretion: Sellar gangliocytomas immunohistochemically positive for GHRH are found after pituitary surgery. 4) Peripheral GHRH secretion: The most common type of ectopic acromegaly is due to peripheral GHRH-secreting NETs. Tumours are large and usually located in the lungs or pancreas. Pituitary hyperplasia resulting from chronic GHRH stimulation is difficult to detect or can be misinterpreted as pituitary adenoma in the MRI. Measurement of serum GHRH levels is a specific and useful diagnostic tool. Surgery of GHRH-secreting NETs is often curative.</p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":null,"pages":null},"PeriodicalIF":7.4,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139872925","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

Vitamin D deficiency or resistance and hypophosphatemia 维生素 D 缺乏或抵抗力低下和低磷血症

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-01-30 DOI: 10.1016/j.beem.2024.101876

Vijaya Sarathi , Melkunte Shanthaiah Dhananjaya , Manjiri Karlekar , Anurag Ranjan Lila

{"title":"Vitamin D deficiency or resistance and hypophosphatemia","authors":"Vijaya Sarathi , Melkunte Shanthaiah Dhananjaya , Manjiri Karlekar , Anurag Ranjan Lila","doi":"10.1016/j.beem.2024.101876","DOIUrl":"10.1016/j.beem.2024.101876","url":null,"abstract":"<div><p>Vitamin D is mainly produced in the skin (cholecalciferol) by sun exposure while a fraction of it is obtained from dietary sources (ergocalciferol). Vitamin D is further processed to 25-hydroxyvitamin D and 1,25-dihydroxy vitamin D (calcitriol) in the liver and kidneys, respectively. Calcitriol is the active form which mediates the actions of vitamin D via vitamin D receptor (VDR) which is present ubiquitously. Defect at any level in this pathway leads to vitamin D deficient or resistant rickets. Nutritional vitamin D deficiency is the leading cause of rickets and osteomalacia worldwide and responds well to vitamin D supplementation. Inherited disorders of vitamin D metabolism (vitamin D-dependent rickets, VDDR) account for a small proportion of calcipenic rickets/osteomalacia. Defective 1α hydroxylation of vitamin D, 25 hydroxylation of vitamin D, and vitamin D receptor result in VDDR1A, VDDR1B and VDDR2A, respectively whereas defective binding of vitamin D to vitamin D response element due to overexpression of heterogeneous nuclear ribonucleoprotein and accelerated vitamin D metabolism cause VDDR2B and VDDR3, respectively. Impaired dietary calcium absorption and consequent calcium deficiency increases parathyroid hormone in these disorders resulting in phosphaturia and hypophosphatemia. Hypophosphatemia is a common feature of all these disorders, though not a sine-qua-non and leads to hypomineralisation of the bone and myopathy. Improvement in hypophosphatemia is one of the earliest markers of response to vitamin D supplementation in nutritional rickets/osteomalacia and the lack of such a response should prompt evaluation for inherited forms of rickets/osteomalacia.</p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":null,"pages":null},"PeriodicalIF":7.4,"publicationDate":"2024-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139646967","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

Revisiting hypophosphatemic rickets/osteomalacia 重温低磷酸盐血症佝偻病/骨软化症

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-01-06 DOI: 10.1016/j.beem.2024.101859

Tushar Bandgar, Nalini Shah

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Premature ovarian insufficiency, early menopause, and induced menopause 卵巢早衰、更年期提前、诱发更年期。

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-01-01 DOI: 10.1016/j.beem.2023.101823

Haitham Hamoda Consultant Gynaecologist, Subspecialist in Reproductive Medicine and Surgery , Angela Sharma BMS Menopause Specialist, Co-founder and Director of Spiced Pear Health, Clinical Sexologist

{"title":"Premature ovarian insufficiency, early menopause, and induced menopause","authors":"Haitham Hamoda Consultant Gynaecologist, Subspecialist in Reproductive Medicine and Surgery , Angela Sharma BMS Menopause Specialist, Co-founder and Director of Spiced Pear Health, Clinical Sexologist","doi":"10.1016/j.beem.2023.101823","DOIUrl":"10.1016/j.beem.2023.101823","url":null,"abstract":"<div><p><span><span>Premature ovarian insufficiency (POI) is a condition in which there is a decline in </span>ovarian function<span><span> in women who are younger than 40 years resulting in a hypo-oestrogenic state with elevated gonadotrophins and oligomenorrhoea/amenorrhoea. This leads to short term complications of </span>menopausal symptoms<span> and long-term effects on bone and cardiovascular health, cognition as well as the impact of reduced fertility<span> and sexual function associated with this condition. It is managed by sex steroid replacement either with HRT or combined hormonal contraception until the age of natural menopause (51) and this can provide a beneficial role with both symptom control and minimising the long-term adverse effects associated with this condition. Women who undergo a menopause between 40 and 45 years are deemed to have an “early menopause”. The limited data available for this group suggest that they also have an increased morbidity if not adequately treated with hormone therapy. As such, women who have an </span></span></span></span>early menopause should be managed in a similar way to those with POI, with the recommendation that they should take HRT at least until the natural age of menopause. This is the same for induced menopause that is caused by medical or surgical treatment that impacts the ovaries. It is important to ensure early diagnosis and access to specialist care to help support and manage these patients to reduce the symptoms and risks of long-term complications. This review looks at the diagnosis, causes, short and long-term complications and management of POI, early and induced menopause.</p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":null,"pages":null},"PeriodicalIF":7.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41164226","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}

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Cardiovascular health and the menopause, metabolic health 心血管健康与更年期、新陈代谢健康

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-01-01 DOI: 10.1016/j.beem.2023.101781

Panagiotis Anagnostis (Consultant Endocrinologist) , John C. Stevenson (Consultant Metabolic Physician)

{"title":"Cardiovascular health and the menopause, metabolic health","authors":"Panagiotis Anagnostis (Consultant Endocrinologist) , John C. Stevenson (Consultant Metabolic Physician)","doi":"10.1016/j.beem.2023.101781","DOIUrl":"10.1016/j.beem.2023.101781","url":null,"abstract":"<div><p><span><span>Estrogen depletion following menopause predisposes to increased risk of cardiovascular disease (CVD), mainly due to ischemic heart disease. This is mostly evident in cases with </span>premature menopause<span><span>. The pathophysiological basis for this atherosclerotic process is the accumulation of several risk factors, such as abdominal obesity, atherogenic </span>dyslipidemia, insulin resistance and arterial hypertension. The presence of </span></span>vasomotor<span><span> symptoms may further augment this risk, especially in women younger than 60 years. Menopausal hormone therapy (MHT) exerts many beneficial effects on lipid profile and </span>glucose homeostasis<span><span><span> as well as direct arterial effects, and may reduce CVD risk if initiated promptly (i.e.,<60 years or within ten years of the final menstrual period). Transdermal estradiol and micronized </span>progesterone<span> or dydrogesterone are the safest regimens in terms of venous </span></span>thromboembolic events (VTE) and breast cancer risk. In any case, an individualized approach, taking into account the patient’s total CVD, VTE and breast cancer risk, is recommended.</span></span></p></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":null,"pages":null},"PeriodicalIF":7.4,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9832913","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

Best practice & research clinical endocrinology & metabolism focusing on the menopause – Diagnostic and therapeutic strategies 最佳实践与研究临床内分泌学与新陈代谢，聚焦更年期--诊断与治疗策略

IF 7.4 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2024-01-01 DOI: 10.1016/j.beem.2023.101856

Katie A. Barber (GP and Accredited Menopause Specialist, Clinical Lead, Clinical Director)

引用次数: 0