Annales d'endocrinologie最新文献

{"title":"Chapter 11: Treatment modalities","authors":"Grégory Baud ,&nbsp;Stéphanie Espiard ,&nbsp;Camille Buffet ,&nbsp;Adrien Ben Hamou ,&nbsp;Héloise Henry ,&nbsp;Nunza Cinzia Paladino ,&nbsp;Frédéric Sebag ,&nbsp;Bernard Goichot","doi":"10.1016/j.ando.2025.101700","DOIUrl":"10.1016/j.ando.2025.101700","url":null,"abstract":"<div><div>Treatment modalities for primary hyperparathyroidism must take account of the expected benefits and risks of each treatment envisaged, before choosing the definitive option to be proposed to the patient. In this section, a Foreword puts in perspective the difficulties involved in choosing the criteria for a particular treatment method. Treatments are then considered one after the other: surgery, local destruction and medical management. This section does not consider therapeutic indications, which are dealt with in a section 9.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 1","pages":"Article 101700"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018083","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 14: Post surgical follow-up of primary hyperparathyroidism","authors":"Sara Barraud ,&nbsp;Antoine Guy Lopez ,&nbsp;Emmanuelle Sokol ,&nbsp;Fabrice Menegaux ,&nbsp;Claire Briet","doi":"10.1016/j.ando.2025.101703","DOIUrl":"10.1016/j.ando.2025.101703","url":null,"abstract":"<div><div>Primary hyperparathyroidism is treated surgically. Postoperatively, close monitoring of blood calcium levels is necessary to detect any hypocalcemia. Postoperative PTH assays can be performed within 24<!--> <!-->hours to identify patients who will not develop permanent hypoparathyroidism. Hypocalcemia may be caused by hypoparathyroidism (especially in the case of multi-glandular surgery or revision surgery) or by hungry bone syndrome. The latter should be suspected in case of major skeletal damage or severe preoperative vitamin D deficiency. It leads to severe hypocalcemia with normal or elevated PTH concentration, hypophosphatemia, hypomagnesemia, and low calciuria despite high doses of calcium and 1–25 OH vitamin D. Treatment of postoperative hypocalcemia depends on severity, symptoms and surgical procedure. In uni-glandular surgery, symptomatic treatment with calcium alone is recommended (0.5 to 1<!--> <!-->g/day). In multi-glandular involvement or repeat surgery, treatment with calcium (1 to 3<!--> <!-->g/day) is recommended if hypocalcemia is symptomatic or profound (&lt;<!--> <!-->1.9<!--> <!-->mmol/L) (i.e. 76<!--> <!-->mg/L). If it is insufficient, the potential contribution of active vitamin D treatment should be assessed with an endocrinologist. If hypocalcemia is treated, patients should preferably be monitored by an endocrinologist (blood calcium level, calciuria and possibly phosphatemia and PTH). Under medical treatment of hypoparathyroidism, blood calcium levels should be monitored at least every 3 months for the first year, then at least twice a year.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 1","pages":"Article 101703"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018111","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 7: The different forms of primary hyperparathyroidism at different ages of life: Childhood, pregnancy, lactation, old age","authors":"Madleen Lemaitre ,&nbsp;Clotilde Picart ,&nbsp;Iva Gueorguieva ,&nbsp;Judith Charbit ,&nbsp;Thomas Edouard ,&nbsp;Agnès Linglart ,&nbsp;Dominique Luton ,&nbsp;Philippe Chanson","doi":"10.1016/j.ando.2025.101696","DOIUrl":"10.1016/j.ando.2025.101696","url":null,"abstract":"<div><div>Primary hyperparathyroidism is rare in children. A germline mutation is identified in half of all children with primary hyperparathyroidism (70% of newborns and infants, and 40% of children and adolescents). The clinical manifestations of primary hyperparathyroidism in children are highly variable (often absent in newborns, rather severe and symptomatic in children and adolescents) and depend on the genetic cause, as well as the severity, rapidity of onset and duration of hypercalcemia. Morphological investigation and treatment of children and adolescents follow the same rules as for adults. Surgery must be carried out by a surgeon expert in this pathology in children. Primary hyperparathyroidism is rarely diagnosed during pregnancy. Pregnancy-related changes in phosphocalcic homeostasis can sometimes mask its symptomatology, which explains why it is most often asymptomatic and/or undiagnosed due to low levels of hypercalcemia and/or the attribution of certain symptoms (e.g. vomiting) to pregnancy itself. Maternal-fetal morbidity associated with primary hyperparathyroidism during pregnancy, historically considered significant, is in fact rare and depends on maternal calcium levels. Treatment (conservative or surgical) must be adapted to the term of pregnancy, the severity of symptoms and maternal-fetal risks. Primary hyperparathyroidism is common in the elderly. Although the diagnostic approach is comparable to that in younger patients, some clinical specificities of this population need to be considered. In view of the high prevalence of osteoporotic fractures and their consequences for morbidity and mortality in the elderly, surgery is the preferred option in case of osteoporosis. In 2024, the neuropsychological symptoms and cardiovascular impairment associated with primary hyperparathyroidism do not justify parathyroidectomy. Parathyroidectomy is much less frequent than in the younger population, although it remains the first-line treatment, especially as its safety and efficacy have been widely demonstrated.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 1","pages":"Article 101696"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018150","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 5: The roles of genetics in primary hyperparathyroidism","authors":"Pauline Romanet ,&nbsp;Lucie Coppin ,&nbsp;Arnaud Molin ,&nbsp;Nicolas Santucci ,&nbsp;Maëlle Le Bras ,&nbsp;Marie-Françoise Odou","doi":"10.1016/j.ando.2025.101694","DOIUrl":"10.1016/j.ando.2025.101694","url":null,"abstract":"<div><div>Around 10% of cases of primary hyperparathyroidism are thought to be genetic in origin, some of which are part of a syndromic form such as multiple endocrine neoplasia types 1, 2A or 4 or hyperparathyroidism-jaw tumor syndrome, while the remainder are cases of isolated familial primary hyperparathyroidism. Recognition of these genetic forms is important to ensure appropriate management according to the gene and type of variant involved, but screening for a genetic cause is not justified in all patients presenting primary hyperparathyroidism. The indications for genetic analysis have made it possible to propose a decision tree that takes into account whether the presentation is familial or sporadic, syndromic or isolated, patient age, and histopathological type of parathyroid lesion. Thus, the first consensus recommendation is to propose genetic screening to any patient with a familial form of primary hyperparathyroidism (≥<!--> <!-->2 1st or 2nd degree relatives) or in syndromic presentation or a sporadic isolated presentation if the patient is under 50 years of age, or over 50 with a recurrent or multi-glandular form, carcinoma, atypical parathyroid tumor and/or loss of parafibromin expression. The panel of genes currently recommended for first-line treatment comprises <em>MEN1, CDKN1B, CDC73, CASR, GNA11, AP2S1</em> and <em>GCM2</em>. Other genes may also be involved in familial primary hyperparathyroidism, but in a much more rarely and less consistently. The second recommendation is to propose genetic screening, up to and including whole-genome sequencing in the event of inconclusive panel analysis, to patients with proven familial primary hyperparathyroidism and/or pediatric onset. The role of the genetic practitioner is to interpret the sequencing data by categorizing the variants into 5 classes of pathogenicity. The aim of genetic analysis is to identify the genetic variant involved in the patient's phenotype, in order to make or refute a diagnosis of hereditary primary hyperparathyroidism, and to adapt management and monitoring. Appropriate genetic counseling should then be provided for patient and family.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 1","pages":"Article 101694"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018189","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 12: Preparation for parathyroid surgery","authors":"Anne-Lise Lecoq ,&nbsp;Arnaud Jannin ,&nbsp;Cédric Cirenei ,&nbsp;Nathalie Chereau ,&nbsp;David Osman ,&nbsp;Peter Kamenický","doi":"10.1016/j.ando.2025.101701","DOIUrl":"10.1016/j.ando.2025.101701","url":null,"abstract":"<div><div>Preoperative treatment of PHPT aims to (1) manage severe and/or symptomatic hypercalcemia and (2) prevent postoperative hypocalcemia. Severe hypercalcemia, defined as a blood calcium level<!--> <!-->≥<!--> <!-->3.5<!--> <!-->mmol/L, requires admission to hospital in a conventional or critical care unit, depending on clinical symptoms and comorbidities. Decision to admit a patient in a critical care unit relies on the existence of one or more clinical manifestations (impaired alertness, dehydration with acute renal failure, severe acute pancreatitis) or threatening electrocardiographic signs, or one or more significant comorbidities, notably cardiovascular. Oral rehydration and/or intravenous volume expansion, adapted to cardiac and renal function, form the basis of treatment to lower blood calcium level. If insufficient, intravenous bisphosphonates (zoledronate or pamidronate) are recommended to achieve a reduction in blood calcium levels sufficiently long to allow surgery to be organized. All bisphosphonate injections must be preceded by a minimum etiological work-up of hypercalcemia, including PTH, phosphate and 25-hydroxy vitamin D levels, as well as calciuria and creatininuria. Since bisphosphonates take 24–36<!--> <!-->hours to take effect, calcitonin can initially be combined with them, as it has a rapid onset of action of a few hours. Denosumab is recommended in second line where bisphosphonates cannot be used, notably because of impaired renal function. Hemodialysis is proposed for patients with an identified vital risk, especially if volume expansion is not possible due to cardiac or renal insufficiency. Correction of vitamin D deficiency is recommended before parathyroid surgery if blood calcium levels are<!--> <!-->&lt;<!--> <!-->3.5<!--> <!-->mmol/L, to prevent or attenuate severe postoperative hypocalcemia due to massive calcium transfer to the bone.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 1","pages":"Article 101701"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018094","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 3: Impact of primary hyperparathyroidism","authors":"Nicolas Scheyer ,&nbsp;Samuel Frey ,&nbsp;Eugénie Koumakis ,&nbsp;Carole Guérin ,&nbsp;Rachel Desailloud ,&nbsp;Lionel Groussin ,&nbsp;Bertrand Cariou ,&nbsp;Bruno Vergès ,&nbsp;Laurent Brunaud ,&nbsp;Eric Mirallié ,&nbsp;Lucile Figueres ,&nbsp;Hélène Lasolle","doi":"10.1016/j.ando.2025.101692","DOIUrl":"10.1016/j.ando.2025.101692","url":null,"abstract":"<div><div>At present, primary hyperparathyroidism is most often discovered in an asymptomatic patient, but can sometimes be revealed by a renal or bone complications. In all cases, a full work-up is recommended, with assessment of renal function (glomerular filtration rate), 24-hour calciuria, screening for risk factors for lithiasis, and renal and urinary tract imaging (ultrasound or CT scan) to look for stones or nephrocalcinosis. Bone densitometry, with measurements of the spine, femur and radius, is the recommended reference test for demineralization. Standard X-rays of the spine or other imaging techniques are recommended for the detection of asymptomatic vertebral fracture. Neurocognitive manifestations, reduced quality of life or cardiovascular manifestations should not be routinely screened for, as they are not currently consensual criteria for surgical indications.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 1","pages":"Article 101692"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018178","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 10: What parathyroid imaging is required for hyperparathyroidism?","authors":"Benjamin Chevalier ,&nbsp;Cécile Ghander ,&nbsp;Miriam Ladsous ,&nbsp;Sébastien Gaujoux ,&nbsp;David Taieb ,&nbsp;Camille Buffet ,&nbsp;Delphine Drui ,&nbsp;Jean-Christophe Lifante ,&nbsp;Luigi Maione ,&nbsp;Charlotte Lussey-Lepoutre ,&nbsp;Françoise Borson-Chazot","doi":"10.1016/j.ando.2025.101699","DOIUrl":"10.1016/j.ando.2025.101699","url":null,"abstract":"<div><div>In over 80% of cases, primary hyperparathyroidism results from hypersecretion of PTH by a single parathyroid adenoma. Multi-glandular involvement, combining adenoma and/or hyperplasia in varying proportions, is also possible, although less frequent. When the diagnosis of hyperparathyroidism is certain and surgery is envisaged, imaging is useful for locating the hyperfunctioning gland or glands. First-line exploration is based on a parathyroid ultrasound and a nuclear medicine examination, which may be parathyroid scintigraphy, preferably double isotope I/^12399m Tc-sestamibi, with planar and tomoscintigraphic acquisitions, or a PET-CT scan with ¹⁸F-choline. In the event of negative results, it is advisable to perform a choline PET scan if the initial examination was scintigraphy. In difficult situations, additional investigations using 4D parathyroid CT or parathyroid MRI, fine-needle aspiration cytology and determination of PTH in the flushing fluid are possible after multidisciplinary discussion in an expert center.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 1","pages":"Article 101699"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018076","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":"Acknowledging our 2024 reviewers","authors":"","doi":"10.1016/j.ando.2025.101708","DOIUrl":"10.1016/j.ando.2025.101708","url":null,"abstract":"","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 1","pages":"Article 101708"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143488123","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 15: Recurrent or persistent primary hyperparathyroidism, parathyromatosis","authors":"Miriam Ladsous ,&nbsp;Sophie Deguelte ,&nbsp;Elif Hindié ,&nbsp;Robert Caiazzo ,&nbsp;Brigitte Delemer","doi":"10.1016/j.ando.2025.101704","DOIUrl":"10.1016/j.ando.2025.101704","url":null,"abstract":"<div><div>Persistent primary hyperparathyroidism is defined as the persistence or recurrence of hypercalcemia within 6 months of parathyroid surgery. Recurrent primary hyperparathyroidism is defined as the recurrence of primary hyperparathyroidism more than 6 months after an initially curative parathyroidectomy. In these situations, it is essential to rule out differential diagnoses, and in particular secondary hyperparathyroidism and familial hypocalciuric hypercalcemia. Failure to remove the pathological parathyroid gland or glands during initial surgery for primary hyperparathyroidism is the most common situation in non-expert centers. In other situations, genetically determined multi-glandular primary hyperparathyroidism must be screened for. More rarely, a second sporadic adenoma is identified, or, exceptionally, a parathyroid carcinoma or parathyromatosis. Effective morphological evaluation, combining a morphological and functional imaging, is essential prior to any new parathyroid surgery. The indications for surgery must be discussed in a multidisciplinary team, assessing the risk/benefit ratio, since the risk of surgical complications is higher. Revision surgery should be performed using a suitable approach, after laryngoscopy, in an expert center, ideally with intraoperative PTH measurement and recurrent nerve neuromonitoring.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 1","pages":"Article 101704"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018127","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 4: Differential diagnosis of primary hyperparathyroidism","authors":"Peter Kamenický ,&nbsp;Pascal Houillier ,&nbsp;Marie-Christine Vantyghem","doi":"10.1016/j.ando.2025.101693","DOIUrl":"10.1016/j.ando.2025.101693","url":null,"abstract":"<div><div>The differential diagnosis of primary hyperparathyroidism can be considered clinically, biologically and radiologically. Clinically, primary hyperparathyroidism should be suspected in case of diffuse pain, renal lithiasis, osteoporosis, repeated fracture, cognitive or psychiatric disorder, or disturbance of consciousness. Nevertheless, the differential diagnosis of primary hyperparathyroidism is mainly biological, particularly in atypical forms, which must be differentiated from hypercalcemia with hypocalciuria or non-elevated PTH on the one hand, and from normo-calcemia with elevated PTH, hypophosphatemia or hypercalciuria on the other. Any differential diagnosis must be preceded by an analysis of the factors likely to disturb phospho-calcium parameters: vitamin D deficiency (assay), renal insufficiency (eGFR measurement), malabsorption (inflammatory disease of the digestive tract, celiac disease, bariatric surgery, etc.), insufficient calcium intake (GRIO questionnaire) and iatrogenic causes (diuretics, anti-osteoporotic drugs, excessive vitamin D or calcium supplementation, lithium, corticosteroid therapy, phosphorus intake). Once these factors have been eliminated, hypercalcemia with hypocalciuria should suggest a genetic cause. Hypercalcemia with non-elevated PTH may be secondary to neoplasm, hypervitaminosis D (excessive intake, production or catabolism), immobilization or endocrine causes. Elevated PTH values without hypercalcemia must be differentiated from normo-calcemic hyperparathyroidism. High PTH levels are found in PTH-resistant patients, as well as in hypophosphatemic (especially X-linked) or hypercalciuric tubulopathies (certain rare diseases, immobilization, loop diuretics or idiopathic causes favored by a metabolic syndrome). Radiologically, brown tumor must be differentiated primarily from bone metastasis, chondrosarcoma and giant cell tumor.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 1","pages":"Article 101693"},"PeriodicalIF":2.9,"publicationDate":"2025-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018184","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}