Annales d'endocrinologie最新文献

{"title":"Altitude and paraganglioma","authors":"Julie Sanceau ,&nbsp;Rebecca Westbrook ,&nbsp;Judith Favier","doi":"10.1016/j.ando.2025.101772","DOIUrl":"10.1016/j.ando.2025.101772","url":null,"abstract":"<div><div>The relationship between altitude and the development of paragangliomas (PGLs), rare tumors within the sympathetic nervous system has been suggested since the early 1970's. Here, we discuss how altitude, marked by lower barometric pressure and hypoxia (reduced oxygen partial pressure), may influence cancer rates. Chronic hypoxia triggers physiological changes, such as carotid body (CB) hyperplasia and a higher incidence of head and neck paragangliomas (HN-PGL) which has been reported in high-altitude populations, with a predominance of females among affected individuals. The involvement of hypoxia signalling in PGL tumorigenesis is further reinforced by the demonstration that genetic mutations, (particularly in <em>VHL</em>, <em>SDHx</em> and <em>EPAS1</em> genes) cause a pseudo-hypoxic response. Furthermore, somatic mutations in <em>EPAS1</em> are also linked to an increased risk of PGL in individuals with chronic hypoxemic conditions such as cyanotic congenital heart disease or haemoglobin diseases. Altogether, this review emphasizes the unique sensitivity of paragangliomas to hypoxic signalling, and shows that whether due to low environmental oxygen at high altitudes, diseases, or genetic mutations, hypoxia plays a pivotal role in PGL formation.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 3","pages":"Article 101772"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144031465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The thyroid hormone system and its disruption","authors":"Anni Herranen ,&nbsp;Patricia Rannaud-Bartaire ,&nbsp;Jean-Baptiste Fini","doi":"10.1016/j.ando.2025.101773","DOIUrl":"10.1016/j.ando.2025.101773","url":null,"abstract":"","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 3","pages":"Article 101773"},"PeriodicalIF":2.9,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144185476","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical phenotypes and genetic screening in hereditary primary hyperparathyroidism: A single-center case series","authors":"Yian Gu ,&nbsp;Yuanyuan Ye ,&nbsp;Ning Xu ,&nbsp;Lina Chang,&nbsp;Xin Wang,&nbsp;Yumeng Huang,&nbsp;Baoping Wang ,&nbsp;Ming Liu ,&nbsp;Qing He","doi":"10.1016/j.ando.2025.101791","DOIUrl":"10.1016/j.ando.2025.101791","url":null,"abstract":"<div><h3>Background</h3><div>Hereditary primary hyperparathyroidism (PHPT) is a monogenic autosomal disorder, constituting 5–10% of all PHPT cases. Data on hereditary PHPT in the Chinese population are scarce.</div></div><div><h3>Purpose</h3><div>This study aimed to delineate the etiology, phenotype, genotype, management, and prognosis of hereditary PHPT in Tianjin Medical University General Hospital, expanding the spectrum of pathogenic genes and evaluating the age-dependent penetrance of clinical phenotypes. Additionally, genotype-phenotype correlations were explored in multiple endocrine neoplasia type 1 (MEN1).</div></div><div><h3>Methods</h3><div>A retrospective analysis of medical records from January 1st, 2008 to July 31st, 2024 included clinical presentations, biochemical markers, imaging findings, and whole exome sequencing.</div></div><div><h3>Results</h3><div>The study comprised 73 cases. MEN1 was predominant (80.8%), followed by hyperparathyroidism-jaw-tumor syndrome (9.6%), familial hypocalciuric hypercalcemia (5.5%), MEN2A (2.7%), and familial isolated hyperparathyroidism (1.4%). The male:female sex ratio was 1:1.6. Thirty patients (41.1%) exhibited multiglandular parathyroid involvement. Genetic testing in 57 patients identified 12 novel mutations, with 70.2% harboring pathogenic or likely pathogenic variants. Mean age at initial presentation for PHPT mutation carriers was 42.0<!--> <!-->±<!--> <!-->14.5 years, with 64.3% penetrance by 45 years of age. No significant genotype-phenotype correlations were observed for <em>MEN1</em> mutations.</div></div><div><h3>Conclusion</h3><div>This case series provided insight into the clinical phenotypes and mutational spectrum of hereditary PHPT, emphasizing the role of genetic testing for subtype classification, complications monitoring, treatment guidance and family surveillance. Genetic testing is recommended for PHPT patients with early-onset, complex clinical presentations, multiglandular parathyroid involvement or family history.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 4","pages":"Article 101791"},"PeriodicalIF":2.9,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144096245","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ENDOCAN-TUTHYREF guidelines. Locoregional therapies for locally advanced and/or metastatic thyroid cancer","authors":"Arnaud Jannin ,&nbsp;Alexandre Escande ,&nbsp;Dana Hartl ,&nbsp;Guillaume Louvel ,&nbsp;Ingrid Breuskin ,&nbsp;Françoise Borson-Chazot ,&nbsp;Julien Hadoux ,&nbsp;Livia Lamartina ,&nbsp;Christine Do Cao ,&nbsp;Frédéric Deschamps","doi":"10.1016/j.ando.2025.101790","DOIUrl":"10.1016/j.ando.2025.101790","url":null,"abstract":"<div><div>This article presents consensus recommendations by a multidisciplinary panel of endocrinologists, medical oncologists, pathologists, radiation oncologists, surgeons and nuclear medicine physicians. The recommendations specifically address iodine-refractory well-differentiated thyroid carcinoma and locally advanced and/or metastatic medullary thyroid carcinoma. Treatment algorithms based on risk–benefit assessments of various multimodal therapeutic approaches are proposed for each clinical scenario. Given the limited data available on the management of these rare but aggressive forms of thyroid cancer, these consensus recommendations provide essential guidance for multidisciplinary teams to ensure optimal care for patients with these complex thyroid carcinomas.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 4","pages":"Article 101790"},"PeriodicalIF":2.9,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144086802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Esophageal necrosis following thermal ablation of a thyroid toxic nodule: A case report","authors":"Adrien Ben Hamou ,&nbsp;Gilles Russ","doi":"10.1016/j.ando.2025.101789","DOIUrl":"10.1016/j.ando.2025.101789","url":null,"abstract":"","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 4","pages":"Article 101789"},"PeriodicalIF":2.9,"publicationDate":"2025-05-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144082769","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ENDOCAN TUTHYREF network consensus recommendations: Anaplastic thyroid cancer","authors":"Livia Lamartina ,&nbsp;Arnaud Jannin ,&nbsp;Myriam Decaussin-Petrucci ,&nbsp;Stéphane Bardet ,&nbsp;Alexandre Escande ,&nbsp;Renaud Ciappuccini ,&nbsp;Françoise Borson Chazot ,&nbsp;Abir Al Ghuzlan ,&nbsp;Christine Do Cao ,&nbsp;Julien Hadoux","doi":"10.1016/j.ando.2025.101788","DOIUrl":"10.1016/j.ando.2025.101788","url":null,"abstract":"<div><div>Anaplastic thyroid cancer is a rare and rapidly deadly disease. In case of clinical suspicion (rapid growth, stony neck mass), diagnostic work-up should be carried out as a matter of urgency to enable prompt treatment. Multidisciplinary assessment involving the patient's referring specialists, the support care team, and if necessary, a geriatric oncology specialist should be performed and must take account of disease extent, comorbidities, general health status and the patient's wishes. Patients and their families should receive realistic information about the prognosis; either active treatment in parallel to support care or exclusive palliative care can be recommended from the outset. Despite the dismal prognosis, recent advances in tumor molecular profiling and treatment with the advent of targeted treatment and immunotherapy hold out great promise for the future. This article summarizes the consensus recommendations on management of anaplastic thyroid cancers by the ENDOCAN TUTHYREF network, a rare-cancer network of the French National Institute for Cancer (INCa).</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 4","pages":"Article 101788"},"PeriodicalIF":2.9,"publicationDate":"2025-05-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144009610","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"ENDOCAN TUTHYREF network consensus recommendations: Refractory follicular-derived thyroid cancer","authors":"Christine Do Cao ,&nbsp;Yann Godbert ,&nbsp;Stéphane Bardet ,&nbsp;Francoise Borson-Chazot ,&nbsp;Myriam Decaussin-Petrucci ,&nbsp;Johanna Wassermann ,&nbsp;Alexandre Lugat ,&nbsp;Camila Nascimento ,&nbsp;Sophie Leboulleux ,&nbsp;Bérangère Narciso ,&nbsp;Arnaud Jannin ,&nbsp;Julien Hadoux ,&nbsp;Paul Schwartz ,&nbsp;Ségolène Hescot ,&nbsp;Camille Buffet ,&nbsp;Livia Lamartina ,&nbsp;the ENDOCAN-TUTHYREF network","doi":"10.1016/j.ando.2025.101735","DOIUrl":"10.1016/j.ando.2025.101735","url":null,"abstract":"<div><div>Radioactive-iodine-refractory differentiated thyroid cancer (RAIR DTC) represents 3–5% of follicular-derived DTCs, with approximately 200–300 new cases diagnosed annually in France. Median overall survival in the French RAIR DTC database is 9.5<!--> <!-->years, underscoring the importance of long-term support for caregivers and patients. To guide treatment decision-making, the French ENDOCAN TUTHYREF network has provided algorithms for RAIR DTC management, available at the TUTHYREF website. The present article summarizes these recent practical recommendations, focusing on 5 points. (1) RAIR DTC has long been defined by locally advanced disease not amenable to surgery or metastatic disease not fully responding to radioactive iodine (RAI) therapy, a definition that can be further refined considering prognostic factors. (2) Treatment should be tailored according to tumor burden and progression, with local treatments prioritized for non-progressive or slowly progressive disease. (3) Early tumor molecular testing should be performed to identify driver oncogenes such as BRAF mutation or RET/NTRK/ALK fusion, to optimize access to existing selective targeted therapies. (4) For symptomatic or progressive RAIR DTC, tyrosine multikinase inhibitors, such as sorafenib, lenvatinib or cabozantinib, are the standard therapies, but alternative and 2nd-line kinase inhibitors are also available. (5) Since most therapies are associated with common side-effects such as fatigue and cardiovascular, digestive and skin issues, preparing and monitoring patients for systemic therapy should include careful assessment of comorbidities, toxicity prevention and individual dose adjustment. Overall, management of RAIR DTC requires a multidisciplinary approach, with an emphasis on personalized treatment strategies and proactive therapeutic education.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 4","pages":"Article 101735"},"PeriodicalIF":2.9,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144037462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Taste and endocrine disruption","authors":"Marie-Chantal Canivenc-Lavier ,&nbsp;Wided Kouidhi ,&nbsp;Sofiane Boudalia ,&nbsp;Mireille Folia","doi":"10.1016/j.ando.2025.101768","DOIUrl":"10.1016/j.ando.2025.101768","url":null,"abstract":"","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 3","pages":"Article 101768"},"PeriodicalIF":2.9,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144106537","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Obesity and global warming: A two-way relationship?","authors":"André Scheen","doi":"10.1016/j.ando.2025.101783","DOIUrl":"10.1016/j.ando.2025.101783","url":null,"abstract":"<div><div>Our modern society has to face several health problems, among which climate change characterized by global warming and increased pollution and obesity epidemic and associated morbidities are prominent ones. Interestingly, several epidemiological studies argue for a closed connection between these two health concerns, in fact pointing out a bidirectional relationship. Global warming and its associated exposure to pollutants could contribute to weight gain through different mechanisms, including some endocrine disorders linked to adipocyte dysfunction (adiposopathy) and reduced thermogenesis, as well as a reluctance to physical activity in a hot ambient temperature. Conversely, obesity epidemic may play a role in global warming by an increased consumption of energetic ultra-processed foods and an enhanced energy waste for transportation, both leading to increased greenhouse gas emission. Thus, there is an urgent need for greater action to slow the process of global warming also to prevent harmful effects on health linked to obesity epidemic.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 3","pages":"Article 101783"},"PeriodicalIF":2.9,"publicationDate":"2025-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144055392","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endocrine-disrupting chemicals and reproductive health: With focus on the developmental window of susceptibility","authors":"Terje Svingen","doi":"10.1016/j.ando.2025.101787","DOIUrl":"10.1016/j.ando.2025.101787","url":null,"abstract":"<div><div>Sexual differentiation is highly dependent on the fetal hormonal environment, guiding sexual development and establishing the foundation for lifelong reproductive health. This short communication highlights critical windows of sex determination and differentiation, emphasizing the role of steroid sex hormones, alongside other factors, in orchestrating these processes in early life. Growing evidence suggests that endocrine-disrupting chemicals (EDCs) can disrupt these tightly regulated pathways, leading to developmental disturbances that manifest as reproductive disorders at birth or later in life. In males, disrupted androgen signaling during fetal development is linked to hypospadias, cryptorchidism, reduced fertility, and testicular cancer, while in females, EDC exposure may contribute to altered ovarian function, early puberty, polycystic ovary syndrome (PCOS), and infertility. By illustrating how EDCs can interfere with sexual development, this brief review underscores the need for further research and regulatory measures to mitigate their impact on human health.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 3","pages":"Article 101787"},"PeriodicalIF":2.9,"publicationDate":"2025-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144030971","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}