Annales d'endocrinologie最新文献

{"title":"Chapter 8: Management of aggressive forms of primary HPT: Parathyroid carcinoma and atypical parathyroid tumor","authors":"Christine Do Cao ,&nbsp;Niki Christou ,&nbsp;Julien Hadoux ,&nbsp;Désirée Deandreis","doi":"10.1016/j.ando.2025.101697","DOIUrl":"10.1016/j.ando.2025.101697","url":null,"abstract":"<div><div>Parathyroid carcinoma is extremely rare, affecting 1% of cases of primary hyperparathyroidism. For this reason, management is poorly codified and requires expertise in specialized center. PC is genetically determined in a quarter to a third of cases, notably involving the <em>CDC73</em> gene coding for parafibromin. Since 2004, malignancy has been diagnosed on both macroscopic and microscopic invasion criteria, as set out in the WHO 2022 histopathological classification. Surgery is an essential part of treatment. Resection must be oncological, after prior medical treatment for hypercalcemia that are often severe, and be supported by imaging studies to guide the surgical procedure. After incomplete resection with no possibility of reoperation, adjuvant external radiotherapy should be discussed, given the high risk of local recurrence, even if its value is debated. The recurrence rate for PC is 30–67%. Overall 5-year survival ranges from 60 to 95%. In cases of localized or oligometastatic recurrence, locoregional treatments are preferred. There is no standard treatment for metastatic disease, but the literature review suggests possible benefit from targeted anti-angiogenic therapy. Extensive tumor genotyping is recommended to screen for targetable alterations in driver genes. All parathyroid carcinoma cases should be reviewed in a specialized tumor board. Patients operated on for atypical parathyroid tumors or parathyroid tumors with loss of immunohistochemical expression of parafibromin also require long-term monitoring.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 1","pages":"Article 101697"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018200","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chapter 13: Changes in 2022 WHO classification of parathyroid tumors","authors":"Margot Dupeux ,&nbsp;Sébastien Aubert","doi":"10.1016/j.ando.2025.101702","DOIUrl":"10.1016/j.ando.2025.101702","url":null,"abstract":"<div><div>The latest 2022 WHO classification of the parathyroid tumors incorporates recent data on parathyroid pathophysiology, in particular from genetic sequencing. It highlights histological features potentially indicative of underlying genetic abnormalities, because of their implications for patient management. Immunohistochemical markers can help characterize parathyroid lesions and molecular screening. This new classification is a reminder of the imperative need to provide pathologists with comprehensive clinical and paraclinical information for accurate pathological lesion characterization.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 1","pages":"Article 101702"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018101","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Chapter 9: Indications for the treatment of primary hyperparathyroidism","authors":"Samuel Frey ,&nbsp;Helena Mosbah ,&nbsp;Gianluca Donatini ,&nbsp;Laurent Brunaud ,&nbsp;Olivier Chabre ,&nbsp;Delphine Vezzosi","doi":"10.1016/j.ando.2025.101698","DOIUrl":"10.1016/j.ando.2025.101698","url":null,"abstract":"<div><div>The choice of therapeutic method for the management of primary hyperparathyroidism depends on the severity of the disease and its complications at the time of diagnosis, the specific situation of each patient and his/her natural history, and assessment of the risk/benefit ratio for each method (surgery, local destruction or drugs). This chapter summarizes the indications for the treatment of primary hyperparathyroidism, based on the international literature available as of December 31st, 2023.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 1","pages":"Article 101698"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018203","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":"Epidemiology of primary hyperparathyroidism (Chapter 1)","authors":"Thomas Cuny ,&nbsp;Muriel Mathonnet ,&nbsp;Igor Tauveron","doi":"10.1016/j.ando.2025.101690","DOIUrl":"10.1016/j.ando.2025.101690","url":null,"abstract":"<div><div>Primary hyperparathyroidism (PHPT) is a frequent disease. Prevalence continues to rise in Europe, long after the advent of automated calcemia meters, while incidence has stabilized. The disease is much more common in women, at around 75% of cases, and is more prevalent with advancing age, and particularly post-menopause.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 1","pages":"Article 101690"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018032","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":"Chapter 6: Syndromic primary hyperparathyroidism","authors":"Abdallah Al-Salameh ,&nbsp;Magalie Haissaguerre ,&nbsp;Christophe Tresallet ,&nbsp;Paulina Kuczma ,&nbsp;Camille Marciniak ,&nbsp;Catherine Cardot-Bauters","doi":"10.1016/j.ando.2025.101695","DOIUrl":"10.1016/j.ando.2025.101695","url":null,"abstract":"<div><div>Syndromic primary hyperparathyroidism has several features in common: younger age at diagnosis when compared with sporadic primary hyperparathyroidism, often synchronous or metachronous multi-glandular involvement, higher possibility of recurrence, association with other endocrine or extra-endocrine disorders, and suggestive family background with autosomal dominant inheritance. Hyperparathyroidism in multiple endocrine neoplasia type 1 is the most common syndromic hyperparathyroidism. It is often asymptomatic in adolescents and young adults, but may be responsible for recurrent lithiasis and/or bone loss. Hyperparathyroidism-jaw tumor syndrome is less frequent, but often immediately symptomatic, with higher blood calcium levels, and is sometimes associated with an atypic parathyroid tumor or parathyroid carcinoma. Hyperparathyroidism in multiple endocrine neoplasia type 2A is not at the forefront of the clinical picture, rarely revealing the disease, and often manifests with few symptoms. Multiple endocrine neoplasia type 4 is a more recently described entity, in which hyperparathyroidism seems to occur later and be less severe than in previous syndromes. In all cases, the indications and modalities of surgical treatment should be discussed in an expert center. The risk of recurrence after surgery, particularly high in multiple endocrine neoplasia type 1, requires long-term monitoring.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 1","pages":"Article 101695"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018195","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":"Diagnosis and management of children and adult craniopharyngiomas: A French Endocrine Society/French Society for Paediatric Endocrinology & Diabetes Consensus Statement","authors":"Thomas Cuny ,&nbsp;Rachel Reynaud ,&nbsp;Gérald Raverot ,&nbsp;Régis Coutant ,&nbsp;Philippe Chanson ,&nbsp;Dulanjalee Kariyawasam ,&nbsp;Christine Poitou ,&nbsp;Cécile Thomas-Teinturier ,&nbsp;Bertrand Baussart ,&nbsp;Dinane Samara-Boustani ,&nbsp;Loïc Feuvret ,&nbsp;Carine Villanueva ,&nbsp;Chiara Villa ,&nbsp;Benjamin Bouillet ,&nbsp;Maïthé Tauber ,&nbsp;Stéphanie Espiard ,&nbsp;Sarah Castets ,&nbsp;Albert Beckers ,&nbsp;Jessica Amsellem ,&nbsp;Marie-Christine Vantyghem ,&nbsp;Blandine Gatta-Cherifi","doi":"10.1016/j.ando.2024.07.002","DOIUrl":"10.1016/j.ando.2024.07.002","url":null,"abstract":"","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 1","pages":"Article 101631"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141604618","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Co-existing autonomous cortisol secretion in primary aldosteronism","authors":"Tugba Barlas,&nbsp;Alev Eroglu Altinova,&nbsp;Fusun Balos Toruner,&nbsp;Ethem Turgay Cerit,&nbsp;Mehmet Muhittin Yalcin,&nbsp;Ayhan Karakoc,&nbsp;Mujde Akturk","doi":"10.1016/j.ando.2025.101706","DOIUrl":"10.1016/j.ando.2025.101706","url":null,"abstract":"<div><h3>Aim</h3><div>Co-existing primary aldosteronism (PA) and autonomous cortisol secretion (ACS) has been recently recognized as a distinct entity. This study aimed to assess the incidence of ACS in patients with PA, and its impact on clinical and laboratory parameters.</div></div><div><h3>Methods</h3><div>Ninety-two patients diagnosed with PA were included. Demographic data, comorbidities, laboratory and imaging results were retrospectively analyzed. Patients with overnight 1<!--> <!-->mg dexamethasone suppression test<!--> <!-->&gt;<!--> <!-->1.8<!--> <!-->μg/dL were classified as PA with ACS.</div></div><div><h3>Results</h3><div>Twenty-four patients (26.1%) were in the PA-with-ACS group, and 68 (73.9%) in the PA-without-ACS group. Mean age (<em>P</em> <!-->=<!--> <!-->0.034), body mass index (<em>P</em> <!-->=<!--> <!-->0.034), number of female patients (<em>P</em> <!-->=<!--> <!-->0.012) and maximum adenoma diameter (<em>P</em> <!-->&lt;<!--> <!-->0.001) were higher in the PA-with-ACS group than in the PA-without-ACS group. Basal (<em>P</em> <!-->=<!--> <!-->0.001) and post-saline infusion plasma aldosterone concentrations (PAC) (<em>P</em> <!-->=<!--> <!-->0.009) were higher in the PA-without-ACS group than in the PA-with-ACS group. No significant differences between groups were found in intensity of antihypertensive treatment, presence of type 2 diabetes, coronary artery disease, proteinuria or glomerular filtration rate (<em>P</em> <!-->&gt;<!--> <!-->0.05). Left ventricular hypertrophy (LVH) was detected in 49.4% of patients. Logistic regression demonstrated that PAC and gender were associated factors for LVH.</div></div><div><h3>Conclusion</h3><div>Cortisol co-secretion was identified in approximately one-quarter of patients diagnosed with PA. PA patients without ACS had higher PAC than those with co-existing ACS. According to our results, the co-existing ACS may not seem to have a significant negative impact on clinical parameters in patients with PA.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 2","pages":"Article 101706"},"PeriodicalIF":2.9,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143070125","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":"Natural history of medullary thyroid carcinoma in MEN 2 patients carrying a variant at codon 804 in the RET proto-oncogene: A study by the French Neuroendocrine Tumor Group (GTE)","authors":"Valentine Suteau ,&nbsp;Maÿlis Lebeault ,&nbsp;Martin Schlumberger ,&nbsp;Mohamed Zalzali ,&nbsp;Hélène Lasolle ,&nbsp;Maëlle Le Bras ,&nbsp;Gérard Chabrier ,&nbsp;Isabelle Raingeard ,&nbsp;Frédéric Castinetti ,&nbsp;Philippe Caron ,&nbsp;Cécile Ghander ,&nbsp;Nicolas Chevalier ,&nbsp;Delphine Mirebeau-Prunier ,&nbsp;Vincent Rohmer ,&nbsp;Patrice Rodien ,&nbsp;Claire Briet","doi":"10.1016/j.ando.2025.101705","DOIUrl":"10.1016/j.ando.2025.101705","url":null,"abstract":"<div><h3>Background</h3><div><em>RET</em> variants affecting codon 804 are part of the low-to-moderate risk group in the ATA classification, with indications for prophylactic thyroidectomy beyond age of 5<!--> <!-->years. However, aggressiveness seems to be variable. The objective of this study was to report a large cohort of French carriers of a pathogenic variant at codon 804 in the <em>RET</em> proto-oncogene.</div></div><div><h3>Methods</h3><div>Patients from 12 university hospitals with a <em>RET</em> 804 variant were recruited in this retrospective non-interventional French national study, from the French GTE-ENDOCAN-RENATEN database. Incidence and severity (TNM stage and calcitonin levels) of medullary thyroid carcinoma (MTC), phenotype-genotype correlation and clinical outcome were assessed.</div></div><div><h3>Results</h3><div>A total of 322 patients were analyzed. Index cases (<em>n</em> <!-->=<!--> <!-->65) had a median age at diagnosis of 57<!--> <!-->years (range: 46–66), and relatives (<em>n</em> <!-->=<!--> <!-->257) a median age of 37<!--> <!-->years (range: 18–51). Median first calcitonin measurement was 240<!--> <!-->ng/L (range: 79–1344) in index cases, and 6.7<!--> <!-->ng/L (range: 0–22) in relatives. In index cases, the pathogenic variant c.2410G&gt;A (p.Val804Met) in <em>RET</em> was more frequent (80% of cases) than c.2410G&gt;C or c.2410G&gt;T (p.Val804Leu). MTC was multifocal, node-positive and metastatic in 64%, 51% and 20% of cases respectively. TNM stage, preoperative calcitonin level and male gender were predictive of persistent disease (defined by postoperative calcitonin<!--> <!-->&gt;<!--> <!-->5<!--> <!-->ng/L) (<em>P</em> <!-->&lt;<!--> <!-->0.001). Ten-year disease-free survival (DFS) was 61%. In total, 113 relatives were operated on: 62% with MTC and 34% with isolated C-cell hyperplasia (CCH); the youngest patients were aged 20 for MTC and 4<!--> <!-->years for CCH. Ten-year DFS was 90%.</div></div><div><h3>Conclusion</h3><div>The <em>RET</em> pathogenic variants affecting the codon 804 mainly led to low aggressiveness disease, with late presentation and prolonged DFS. We suggest surgery in relatives if calcitonin values are above 6<!--> <!-->ng/L, instead of 10<!--> <!-->ng/L. Long-term surveillance is mandatory, since recurrence remains possible several years after surgery.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 2","pages":"Article 101705"},"PeriodicalIF":2.9,"publicationDate":"2025-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Gonadotropic axis following endoscopic surgery for pituitary neuroendocrine tumor in patients of reproductive age","authors":"George Riley ,&nbsp;Léa Demarquet ,&nbsp;Bruno Guerci ,&nbsp;Marc Klein ,&nbsp;Isabelle Merlot ,&nbsp;Mikael Agopiantz ,&nbsp;Nicolas Scheyer","doi":"10.1016/j.ando.2025.101688","DOIUrl":"10.1016/j.ando.2025.101688","url":null,"abstract":"<div><h3>Purpose</h3><div>Pituitary neuroendocrine tumor (PitNET), excluding prolactinoma, often requires endoscopic endonasal surgery (EES). Identifying predictive factors for complications, and particularly rare ones such as hypogonadotropic hypogonadism (HH) that may affect fertility, is challenging. This study investigated de-novo postoperative HH and its potential impact on fertility.</div></div><div><h3>Methods</h3><div>We conducted a retrospective study of 211 patients undergoing EES. HH was evaluated using age- and gender-specific criteria. The characteristics of patients of reproductive age were analyzed to identify risk factors for de-novo postoperative HH.</div></div><div><h3>Results</h3><div>Twelve of the 60 patients of reproductive age with no preoperative HH (20%) developed de-novo HH within 4–6<!--> <!-->months’ follow-up, with 7 (12%) presenting long-term HH (median: 893 days). De-novo HH was significantly associated with corticotroph adenoma (<em>P</em> <!-->=<!--> <!-->0.01). Median tumor size was greater in HH than non-HH patients (<em>P</em> <!-->&lt;<!--> <!-->0.01).</div></div><div><h3>Conclusion</h3><div>De-novo HH is a frequent complication of pituitary surgery, affecting 1 in 5 patients in our cohort, and is persistent in most cases. While risk factors such as large tumor size and corticotroph subtype were identified, the condition is still difficult to predict. These findings underscore the importance of integrating this risk into preoperative counseling and follow-up.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 2","pages":"Article 101688"},"PeriodicalIF":2.9,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Determinants of cerebrospinal fluid leakage in a large cohort of macroprolactinomas","authors":"Coline Martin ,&nbsp;Delphine Leclercq ,&nbsp;Anne-Laure Boch ,&nbsp;Christel Jublanc ,&nbsp;Emmanuelle Kuhn","doi":"10.1016/j.ando.2025.101685","DOIUrl":"10.1016/j.ando.2025.101685","url":null,"abstract":"<div><h3>Introduction</h3><div>Macroprolactinomas are the most frequent subtype of pituitary adenomas. Their treatment has been improved since the onset of dopamin agonists (DA). Nevertheless, DA can cause a cerebospinal fluid (CSF) leakage by shrinking the tumor and lead to a bacterial meningitis. This complication might have lethal consequences.</div></div><div><h3>Methods</h3><div>We conducted an observational, retrospective study in the Pituitary Unit in Pitié Salpêtrière Hospital. A total of 171 patients with macroprolactinomas (larger diameter greater than 10mm) were included in the study. We compared patients who presented cerebrospinal rhinorrhea and/or meningitis, so-called complicated patients (C group), to patients who presented no complications during their follow-up, so-called uncomplicated patients (UC group): no occurrence of rhinorrhea, meningitis.</div></div><div><h3>Results</h3><div>Cerebrospinal fluid (CSF) leakage has been found in 5% of patients in our large cohort of macroprolactinoma. Determinants of CSF leakage seems to be : adenoma size with concomitant supra- and infrasellar extension, very high prolactin level (&gt;<!--> <!-->1000µg/l), cabergoline treatment.</div></div><div><h3>Conclusion</h3><div> <!-->Cerebrospinal rhinorrhea is a rare complication of macroprolactinomas, but potentially lethal because of meningitis risk. Anti-pneumococcal and anti-haemophilus vaccination appears to be appropriate in these patients at the time of introduction of DA, to prevent meningitis.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 2","pages":"Article 101685"},"PeriodicalIF":2.9,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}