Best practice & research. Clinical endocrinology & metabolism最新文献_第4页

Persistence and Recurrence of Primary Hyperparathyroidism 原发性甲状旁腺功能亢进的持续和复发。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-03-01 DOI: 10.1016/j.beem.2025.101986

Rasha A.Y. Alnajmi , Dalal S. Ali , Aliya A. Khan

{"title":"Persistence and Recurrence of Primary Hyperparathyroidism","authors":"Rasha A.Y. Alnajmi , Dalal S. Ali , Aliya A. Khan","doi":"10.1016/j.beem.2025.101986","DOIUrl":"10.1016/j.beem.2025.101986","url":null,"abstract":"<div><div>Persistent and recurrent primary hyperparathyroidism (PHPT) represent significant challenges in the management of PHPT. Persistent PHPT is defined as persistence of hypercalcemia following parathyroidectomy (PTX) or the recurrence of hypercalcemia within the first 6 months following surgery. Recurrent PHPT is defined as recurrence of hypercalcemia after 6 months following PTX and requires normalization of serum calcium prior to the recurrence. These conditions are often attributed to missed or ectopic glands, multiglandular disease, surgeon inexperience, or rare causes such as parathyromatosis and parathyroid carcinoma. Diagnosis requires a detailed biochemical evaluation, imaging studies, and exclusion of other causes of hypercalcemia as well as secondary causes of hyperparathyroidism. Preoperative imaging modalities, including neck ultrasound, SPECT-CT with 99m Tc-sestamibi scan, 4D-CT, 18F-Fluorocholine PET/CT, and PET/MRI are helpful in localizing abnormal parathyroid glands in cases requiring repeat surgery. Repeat surgery is associated with higher risk and requires an experienced surgeon. When surgery is not indicated or possible, medical management with cinacalcet and antiresorptive therapies may be considered. This review highlights the etiology, diagnostic approaches, and management strategies for persistent and recurrent PHPT, emphasizing the importance of multidisciplinary care in order to optimize outcomes.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 2","pages":"Article 101986"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143617967","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

Adolescent primary hyperparathyroidism 青少年原发性甲状旁腺功能亢进。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-03-01 DOI: 10.1016/j.beem.2025.101975

Anima Sharma, Saba Samad Memon, Manjiri Karlekar, Tushar Bandgar

{"title":"Adolescent primary hyperparathyroidism","authors":"Anima Sharma, Saba Samad Memon, Manjiri Karlekar, Tushar Bandgar","doi":"10.1016/j.beem.2025.101975","DOIUrl":"10.1016/j.beem.2025.101975","url":null,"abstract":"<div><div>Adolescent primary hyperparathyroidism (PHPT) is a rare endocrine disorder bearing distinctions from the adult form. This review examines its unique aspects, focusing on clinical presentation, genetic etiologies, genotype-phenotype correlations, and therapeutic management. Adolescent PHPT often has a genetic basis, whether familial, syndromic, or apparently sporadic, and identifying the underlying genetic cause is important for patient care. The clinical presentation is predominantly symptomatic worldwide. Unique manifestations in this age group include rickets, short stature, and slipped capital femoral epiphysis. Genotype-specific differences are evident in the adolescent PHPT characteristics. Diagnostic evaluation requires careful interpretation of biochemical and dual-energy X-ray absorptiometry findings using age and gender-specific reference ranges, with targeted screening for syndrome-associated neoplasms. Surgery remains the cornerstone of management. Current knowledge gaps in their management include treatment protocols for multiple endocrine neoplasia type 1-associated PHPT, the efficacy and safety of nonsurgical options, and long-term post-surgical outcomes.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 2","pages":"Article 101975"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018079","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

Pregnancy with primary hyperparathyroidism 妊娠伴有原发性甲状旁腺功能亢进。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-03-01 DOI: 10.1016/j.beem.2025.101983

Rimesh Pal , Soham Mukherjee , Trupti N. Prasad , Sanjay Kumar Bhadada

引用次数: 0

Association of primary hyperparathyroidism with pituitary adenoma and management issues 原发性甲状旁腺功能亢进与垂体腺瘤的关系及处理问题。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-03-01 DOI: 10.1016/j.beem.2025.101978

Liza Das , Pinaki Dutta

{"title":"Association of primary hyperparathyroidism with pituitary adenoma and management issues","authors":"Liza Das , Pinaki Dutta","doi":"10.1016/j.beem.2025.101978","DOIUrl":"10.1016/j.beem.2025.101978","url":null,"abstract":"<div><div>The co-occurrence of primary hyperparathyroidism (PHPT) and pituitary adenomas (PAs) is often indicative of underlying genetic syndromes such as Multiple Endocrine Neoplasia type 1 (MEN1) and, less commonly, MEN4. Although both conditions can occur sporadically, their simultaneous presence warrants evaluation for genetic mutations, with MEN1 mutations being the most frequent cause. The management of concurrent PHPT and PAs, especially in MEN1 patients, presents unique challenges. Management complexities arise from the syndromic nature, involving both surgical and medical interventions tailored to each condition. PHPT often manifests earlier and more aggressively in MEN1, requiring surgical intervention. However, recurrence rates remain high due to multiglandular involvement. Pituitary adenomas in MEN1 are primarily prolactinomas, and treatment with dopamine agonists results in significant tumour control in most cases. Overall, PAs associated with MEN1 are generally responsive to medical therapy, but careful long-term monitoring is essential. The utility of genetic screening cannot be overstated, as it aids in early detection, risk stratification, and management of both the index case and affected family members by cascade screening. A multidisciplinary approach is crucial for optimizing outcomes, with ongoing surveillance to manage recurrence and associated complications. In summary, the co-occurrence of PHPT and PAs, particularly in the context of MEN1, necessitates an integrated management strategy. Genetic testing is key in confirming diagnosis and guiding treatment, while surgical and medical interventions should be tailored to the extent and nature of glandular involvement. Close monitoring for recurrence and proactive family screening are essential components of long-term care.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 2","pages":"Article 101978"},"PeriodicalIF":6.1,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143367053","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

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 DOI: 10.1016/j.beem.2024.101926

Alessio Imperiale (Nuclear Medicine Physician) , Valentina Berti (Nuclear Medicine Physician)

{"title":"SDH-related head and neck paragangliomas: Unraveling PET radiomics beyond 18F-FDG","authors":"Alessio Imperiale (Nuclear Medicine Physician) , Valentina Berti (Nuclear Medicine Physician)","doi":"10.1016/j.beem.2024.101926","DOIUrl":"10.1016/j.beem.2024.101926","url":null,"abstract":"<div><div>Radiomics revolutionizes medical imaging by providing quantitative analysis that complements traditional qualitative assessments through advanced computational techniques. In this narrative review we have investigated the impact of succinate dehydrogenase (<em>SDH</em>) pathogenic variants on the radiomic profile of <sup>18</sup>F-FDG, <sup>18</sup>F-DOPA, and <sup>68</sup>Ga-DOTA-peptides PET in paragangliomas, focusing on head and neck localizations (HNPGLs). This influence manifests in uptake intensity and textural heterogeneity, revealing a complex radiomic landscape that may reflect specific tumor behaviors and mutation statuses. By combining radiomic analysis with genetic data, we will gain new insights into the relationship between PET imaging features and underlying molecular changes. In the future, we envision an approach integrating macroscopic indices, such as lesion location, size, and SUV, with advanced computer-based algorithms. This comprehensive analysis could facilitate <em>in vivo</em> predictions of <em>SDH</em> pathogenic variants, thereby encouraging genetic testing, and ultimately improving patient outcomes.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 1","pages":"Article 101926"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142082832","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

Systemic therapy for patients with metastatic pheochromocytoma and paraganglioma 转移性嗜铬细胞瘤和副神经节瘤的全身治疗。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 DOI: 10.1016/j.beem.2025.101977

Alessa Fischer (Resident Internal Medicine and Endocrinology) , Jaydira del Rivero (Associate Research Physician) , Katharina Wang (Resident Internal Medicine and Endocrinology) , Svenja Nölting (Assistant Professor) , Camilo Jimenez (Professor)

{"title":"Systemic therapy for patients with metastatic pheochromocytoma and paraganglioma","authors":"Alessa Fischer (Resident Internal Medicine and Endocrinology) , Jaydira del Rivero (Associate Research Physician) , Katharina Wang (Resident Internal Medicine and Endocrinology) , Svenja Nölting (Assistant Professor) , Camilo Jimenez (Professor)","doi":"10.1016/j.beem.2025.101977","DOIUrl":"10.1016/j.beem.2025.101977","url":null,"abstract":"<div><div>Pheochromocytomas and paragangliomas are rare neuroendocrine tumors derived from the paraganglia. These tumors frequently secrete excessive amounts of catecholamines leading to cardiovascular and gastrointestinal complications. While all pheochromocytomas and paragangliomas possess the potential for metastasis, actual metastatic occurrences are observed in approximately one third of cases. The metastases primarily affect the lymph nodes, skeletal system, liver, and lungs. Furthermore, patients often experience a reduced overall survival rate attributed to factors such as tumor size, disease advancement, and excessive catecholamine secretion. For several decades, treatment options for patients diagnosed with metastatic pheochromocytomas and paragangliomas have primarily included combination chemotherapy with cyclophosphamide, vincristine, and dacarbazine, along with Iodine-131-metaiodobenzylguanidine. However, significant advancements in scientific research over the past 25 years have enabled a comprehensive characterization of these tumors from biochemical, molecular, and diagnostic standpoints, resulting in the identification of new therapeutic alternatives for affected patients. In the last decade, we have witnessed the introduction of innovative systemic therapies specifically designed for those with metastatic pheochromocytomas and paragangliomas. In this review, we aim to present findings on the efficacy, safety, and overall activity from prospective clinical trials involving radiopharmaceuticals and tyrosine kinase inhibitors, and we will also outline the prospective advantages of additional novel therapies currently under evaluation.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 1","pages":"Article 101977"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070222","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

Overview of recent guidelines and consensus statements on initial screening and management of phaeochromocytoma and paraganglioma in SDHx pathogenic variant carriers and patients 关于 SDHx 致病变异携带者和患者中的嗜铬细胞瘤和副神经节瘤的初步筛查和管理的最新指南和共识声明概览

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 DOI: 10.1016/j.beem.2024.101938

Charlotte Lussey-Lepoutre , Karel Pacak , Ashley Grossman , David Taieb , Laurence Amar

{"title":"Overview of recent guidelines and consensus statements on initial screening and management of phaeochromocytoma and paraganglioma in SDHx pathogenic variant carriers and patients","authors":"Charlotte Lussey-Lepoutre , Karel Pacak , Ashley Grossman , David Taieb , Laurence Amar","doi":"10.1016/j.beem.2024.101938","DOIUrl":"10.1016/j.beem.2024.101938","url":null,"abstract":"<div><div>Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumours with a strong genetic predisposition, involving over 20 genes and with germline pathogenic variants identified in 40 % of cases. The succinate dehydrogenase (<em>SDHx</em>) genes are the most commonly implicated in hereditary PPGLs, accounting for 20 % of cases, and present unique diagnostic and treatment challenges due to their potential for multiple, recurrent, and aggressive manifestations, often necessitating lifelong follow-up. Over the past two decades, advances in biochemical and imaging assessments, management, and follow-up protocols have significantly improved care for both adult and paediatric patients. These advances include next-generation sequencing, new biochemical tests, cluster-specific functional imaging, and improved surgical and radiotherapy techniques, such as stereotactic surgery and peptide receptor radionuclide therapy (PRRT). International consensus guidelines have been developed to standardise the management of patients with <em>SDHx</em> pathogenic variants, emphasising multidisciplinary approaches and frequent tumour board discussions. These guidelines, summarised below, cover recommendations for initial genetic testing, tumour screening, follow-up care, and management of patients and asymptomatic carriers.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 1","pages":"Article 101938"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142267231","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

Progress in surgical approaches and outcomes of patients with pheochromocytoma and paraganglioma 嗜铬细胞瘤和副神经节瘤患者的手术方法和疗效进展。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 DOI: 10.1016/j.beem.2024.101954

Lindsay R. Friedman (Surgical Oncology Research Fellow), Bhavishya Ramamoorthy (Surgical Oncology Research Fellow), Naris Nilubol (Endocrine Surgeon)

{"title":"Progress in surgical approaches and outcomes of patients with pheochromocytoma and paraganglioma","authors":"Lindsay R. Friedman (Surgical Oncology Research Fellow), Bhavishya Ramamoorthy (Surgical Oncology Research Fellow), Naris Nilubol (Endocrine Surgeon)","doi":"10.1016/j.beem.2024.101954","DOIUrl":"10.1016/j.beem.2024.101954","url":null,"abstract":"<div><div>Significant advances have been made in the past few decades in surgical management and outcomes of patients with pheochromocytoma and paraganglioma. Improvements in preoperative hypertensive control with the implementation of alpha- and beta-adrenergic blockade has resulted in better intra-operative blood pressure control and less incidence of hypertensive crises, which had been a large source of morbidity in the past. Emphasis on anesthesia and surgical team communication has also assisted in minimizing intraoperative hypertensive events at critical points of the operation. Shifting away from open resection, the now standard-of-care laparoscopic and minimally invasive adrenalectomy offers less pain, shorter hospitalizations, and quicker recoveries. Patient underlying germline mutations can guide the timing, approach, and extent of surgery. Postoperative outcomes have significantly improved with recent advancements in perioperative care in addition to regimented biochemical and radiographic surveillance. Here, we highlight the recent advancements in surgical approaches and outcomes for patients with pheochromocytoma and paraganglioma.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 1","pages":"Article 101954"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142376433","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 and research clinical endocrinology and metabolism issue on phaeochromocytomas and paragangliomas 嗜铬细胞瘤和副神经节瘤的临床内分泌学和代谢问题的最佳实践与研究。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 DOI: 10.1016/j.beem.2025.101976

Karel Pacak , Svenja Nölting

引用次数: 0

Personalized management for phaeochromocytomas and paragangliomas in Latin America: A genetic perspective 拉丁美洲嗜铬细胞瘤和副神经节瘤的个性化治疗：遗传学视角。

IF 6.1 1区医学

Best practice & research. Clinical endocrinology & metabolism Pub Date : 2025-01-01 DOI: 10.1016/j.beem.2024.101922

Felipe Freitas-Castro (Postdoctoral Fellow) , Madson Q. Almeida (Associate Professor)

{"title":"Personalized management for phaeochromocytomas and paragangliomas in Latin America: A genetic perspective","authors":"Felipe Freitas-Castro (Postdoctoral Fellow) , Madson Q. Almeida (Associate Professor)","doi":"10.1016/j.beem.2024.101922","DOIUrl":"10.1016/j.beem.2024.101922","url":null,"abstract":"<div><div>Phaeochromocytomas and paragangliomas (PPGLs) are rare neuroendocrine tumors with clinical heterogeneity and a high association with hereditary disease, affecting approximately 30 % of the cases. Differences in the presentation and genetic etiologies of PPGLs have been demonstrated between Chinese and European patients. The frequency of germline genetic diagnosis was remarkably higher in Brazilian patients (∼50 %) compared with other cohorts (Chinese 21 %, European 31 %, and The Cancer Genome Atlas Program cohort 27 %). Interestingly, germline <em>SDHB</em> genetic defects were also more prevalent in Brazilian patients (17 %) with PPGLs when compared with other cohorts (3–9 %). The <em>SDHB</em> exon 1 deletion was responsible for approximately 50 % of the <em>SDHB</em> pathogenic/likely pathogenic variants in Brazilian patients with PPGLs due to a founder effect. The germline <em>SDHB</em> exon 1 deletion represents ∼10 % of the germline drivers in Brazilian patients (and possibly in Latin America). Therefore, a single diagnostic PCR for the <em>SDHB</em> exon 1 deletion might be very useful in clinical practice for genetic testing and counseling of patients with PPGLs in Latin America.</div></div>","PeriodicalId":8810,"journal":{"name":"Best practice & research. Clinical endocrinology & metabolism","volume":"39 1","pages":"Article 101922"},"PeriodicalIF":6.1,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142147066","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