Annales d'endocrinologie最新文献_第2页

Mechanisms Controlling Genomic Imprinting and Their Dysregulation in Human Imprinting Disorders. 基因组印迹的控制机制及其在人类印迹疾病中的失调。

IF 2.9

Annales d'endocrinologie Pub Date : 2026-04-15 DOI: 10.1016/j.ando.2026.102552

Aurélien Juven, Catherine Vaurs-Barrière, Franck Court, Bertille Montibus, Philippe Arnaud

{"title":"Mechanisms Controlling Genomic Imprinting and Their Dysregulation in Human Imprinting Disorders.","authors":"Aurélien Juven, Catherine Vaurs-Barrière, Franck Court, Bertille Montibus, Philippe Arnaud","doi":"10.1016/j.ando.2026.102552","DOIUrl":"https://doi.org/10.1016/j.ando.2026.102552","url":null,"abstract":"Imprinted genes play a pivotal role in regulating growth, development, and behavior through parent-of-origin-specific expression. This allelic specificity is orchestrated by \"imprinting control regions\" (ICRs), which depend on DNA methylation marks established on only one parental allele. The epigenetic life cycle of imprinting involves dynamic reprogramming: preexisting methylation is erased in primordial germ cells, followed by the establishment of new marks in either the female or male germline. After fertilization, these allele-specific methylation patterns are faithfully maintained throughout somatic development, ensuring proper gene dosage and function. Disruption of this tightly regulated epigenetic cycle, during germline erasure, establishment, or somatic maintenance, can lead to human diseases. Errors in imprinting are linked to at least thirteen congenital imprinting disorders, including Beckwith-Wiedemann syndrome (BWS), Prader-Willi syndrome (PWS), and Silver Russell Syndrome (SRS). Endocrine dysfunctions are central to these conditions, reflecting the critical involvement of imprinted genes in growth regulation and hormonal signalling. In this review, we dissect the molecular mechanisms governing the reset, acquisition, maintenance, and transmission of imprints across development, and examine how perturbations at each stage contribute to the pathogenesis of imprinting disorders.","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":"102552"},"PeriodicalIF":2.9,"publicationDate":"2026-04-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147719175","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

THE KEY DATA FROM THE 2025 ESE/ESPE CONGRESS: News on impaired sensitivity to thyroid hormone syndromes. 来自2025年ESE/ESPE大会的关键数据：关于甲状腺激素综合征敏感性受损的新闻。

IF 2.9

Annales d'endocrinologie Pub Date : 2026-04-10 DOI: 10.1016/j.ando.2026.102548

Solange Grunenwald, Philippe Caron

引用次数: 0

Facts and news about growth hormone replacement therapy in adults. 成人生长激素替代疗法的事实和新闻。

IF 2.9

Annales d'endocrinologie Pub Date : 2026-03-28 DOI: 10.1016/j.ando.2026.102547

Thierry Brue, Karine Aouchiche, Nicolas Sahakian, Cécilia Piazzola, Frédérique Albarel, Isabelle Morange, Marie Vermalle, Thomas Cuny, Frédéric Castinetti

{"title":"Facts and news about growth hormone replacement therapy in adults.","authors":"Thierry Brue, Karine Aouchiche, Nicolas Sahakian, Cécilia Piazzola, Frédérique Albarel, Isabelle Morange, Marie Vermalle, Thomas Cuny, Frédéric Castinetti","doi":"10.1016/j.ando.2026.102547","DOIUrl":"https://doi.org/10.1016/j.ando.2026.102547","url":null,"abstract":"Adult growth hormone deficiency (GHD) is associated with increased adiposity, reduced lean mass, adverse lipid profile, decreased bone density and impaired quality of life. Growth hormone (GH) replacement therapy provides significant metabolic, cardiovascular, musculoskeletal and psychological benefit. Traditional stimulation tests, such as the insulin tolerance and glucagon tests, are gold-standards for diagnosis, but the oral macimorelin test offers a safe, reliable and well-tolerated alternative. GH replacement should be titrated to achieve age-appropriate insulin-like growth factor 1 (IGF-1) levels. Monitoring should address potential side-effects, including glucose intolerance and fluid retention. Long-acting growth hormone (LAGH) formulations, such as somapacitan, lonapegsomatropin and somatrogon, now enable weekly administration, improving adherence while maintaining efficacy and safety comparable to daily therapy. Early evidence suggests enhanced patient satisfaction and similar metabolic outcomes. Ongoing longitudinal studies are essential to clarify long-term safety.","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":"102547"},"PeriodicalIF":2.9,"publicationDate":"2026-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147583185","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Adrenocortical Carcinoma: From genomics to patients. 肾上腺皮质癌：从基因组学到患者。

IF 2.9

Annales d'endocrinologie Pub Date : 2026-03-20 DOI: 10.1016/j.ando.2026.102521

Victor Gravrand, Anne Jouinot, Guillaume Assié

{"title":"Adrenocortical Carcinoma: From genomics to patients.","authors":"Victor Gravrand, Anne Jouinot, Guillaume Assié","doi":"10.1016/j.ando.2026.102521","DOIUrl":"https://doi.org/10.1016/j.ando.2026.102521","url":null,"abstract":"Background: Adrenocortical carcinoma (ACC) is a rare malignancy with limited therapeutic options and poor prognosis in advanced stages. Clinico-pathological markers, such as Ki67 and ENSAT stage remain insufficient to fully predict recurrence or treatment response, highlighting the need for molecular characterization.Molecular classification: Omic approaches, including transcriptomics, DNA methylation and chromosomal alteration profiling have consistently identified two distinct ACC subtypes \"C1A\" and \"C1B\". C1A tumors, overexpressing proliferation genes, are associated to poorer outcomes. C1B tumors however, are characterized by their immune signature and are of better prognosis. Single-cell analyses have helped understanding the mechanisms underlying these differences, hinting at a central role of intratumoral steroid differentiation in shaping the immune microenvironment.Clinical and therapeutic perspectives: Transcriptome sequencing from paraffin-embedded samples are bringing molecular classification closer to routine care, with ongoing prospective trials evaluating its feasability. Genomic classification represents a major step in ACC management and understanding, offering improved prognostic stratification and orienting future therapeutic strategies.","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":"102521"},"PeriodicalIF":2.9,"publicationDate":"2026-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147500761","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Genetic dyslipidemias. 遗传血脂异常。

IF 2.9

Annales d'endocrinologie Pub Date : 2026-03-20 DOI: 10.1016/j.ando.2026.102524

Bruno Vergès

{"title":"Genetic dyslipidemias.","authors":"Bruno Vergès","doi":"10.1016/j.ando.2026.102524","DOIUrl":"https://doi.org/10.1016/j.ando.2026.102524","url":null,"abstract":"Although genetic factors strongly influence lipid metabolism, genetic dyslipidemias refer to specific monogenic defects that significantly alter the function of proteins involved in lipid metabolism. Familial hypercholesterolemia results from mutations in the genes coding for LDL receptor, apolipoprotein B100 (apoB100), PCSK9, or LDLRAP1. The rare homozygous form is severe, with extravascular lipid deposits at an early age and a high incidence of coronary events in childhood, in the absence of early diagnosis. The heterozygous form is more frequent and characterized by elevated plasma LDL cholesterol levels (>190 mg/dL in adults) and a very high risk of premature coronary artery disease (usually before the age of 50 years). Familial chylomicronemia syndrome (FCS) is a major form of genetic hypertriglyceridemia caused by mutations in genes encoding lipoprotein lipase or one of its cofactors (apoC-II, apoA-V, GPIHBP1, or LMF1). Patients with FCS exhibit markedly elevated plasma triglyceride levels (>10 mmol/L) and are at high risk for acute pancreatitis. Congenital familial partial lipodystrophy and glycogen storage diseases are two other forms of genetic hypertriglyceridemia. In addition, other rare genetic dyslipidemias have been described in humans, including familial dysbetalipoproteinemia, abetalipoproteinemia, familial hypobetalipoproteinemia, familial combined hypolipidemia, sitosterolemia, and hypoalphalipoproteinemias.","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":"102524"},"PeriodicalIF":2.9,"publicationDate":"2026-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147500861","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

HOW GENETICS CHANGED OR WILL CHANGE THE THERAPY IN THYROID NODULES WITH INDETERMINATE CYTOLOGY. 遗传学如何改变或将改变细胞学不确定的甲状腺结节的治疗。

IF 2.9

Annales d'endocrinologie Pub Date : 2026-03-20 DOI: 10.1016/j.ando.2026.102523

Marina Muzza, Carla Colombo, Laura Fugazzola, Luca Persani

{"title":"HOW GENETICS CHANGED OR WILL CHANGE THE THERAPY IN THYROID NODULES WITH INDETERMINATE CYTOLOGY.","authors":"Marina Muzza, Carla Colombo, Laura Fugazzola, Luca Persani","doi":"10.1016/j.ando.2026.102523","DOIUrl":"https://doi.org/10.1016/j.ando.2026.102523","url":null,"abstract":"The incidence of thyroid cancer has risen in recent decades, largely due to the widespread use of increasingly sensitive imaging techniques that have enhanced the detection of thyroid nodules. Fine-needle aspiration cytology remains the diagnostic gold standard; however, 15-25% of samples fall into indeterminate Bethesda categories (III and IV), for which the traditional approach often involves diagnostic surgery, despite around 75% of these nodules ultimately prove to be benign. Advances in the genetic characterization of thyroid tumors, together with the development of next generation sequencing (NGS) technologies, have enabled the introduction of molecular tests aimed at improving preoperative risk stratification. Key genetic alterations include mutations in BRAF, the RAS family, the TERT promoter, and rearrangements involving RET, NTRK, and ALK, all of which have diagnostic and prognostic implications. Several commercial assays have been developed, employing methodologies including NGS, RNA sequencing, microRNA profiling, and qPCR. These tests demonstrate good sensitivity and high negative predictive value, helping to reduce unnecessary surgeries and better guide therapeutic decisions. Alongside commercial platforms, the high cost and limited accessibility of such tests have stimulated the development of increasingly robust in-house panels. Integrating molecular profiling with clinical and ultrasound findings now enables a more personalized approach to the management of indeterminate thyroid nodules, including surgery, mini-invasive treatments or active surveillance. Future perspectives include multi-omic and artificial intelligence approaches which may further enhance diagnostic accuracy and cost-effectiveness.","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":"102523"},"PeriodicalIF":2.9,"publicationDate":"2026-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147500871","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Annotating rare variants: a challenge that has not been completely resolved. 注释罕见的变体：一个尚未完全解决的挑战。

IF 2.9

Annales d'endocrinologie Pub Date : 2026-03-20 DOI: 10.1016/j.ando.2026.102526

Snaigune Miskinyte, Clemence Delcour, Rihab Makhlouf, Sana Fendri, Svetlana Maugenre, Nicolas de Roux

{"title":"Annotating rare variants: a challenge that has not been completely resolved.","authors":"Snaigune Miskinyte, Clemence Delcour, Rihab Makhlouf, Sana Fendri, Svetlana Maugenre, Nicolas de Roux","doi":"10.1016/j.ando.2026.102526","DOIUrl":"https://doi.org/10.1016/j.ando.2026.102526","url":null,"abstract":"Since the mid-1980s, the combination of clinical research into rare diseases and rapid advances in molecular genetics has led to major breakthroughs in the molecular diagnosis and management of these conditions, which sometimes affect only a small number of patients. These advances have been made possible by considerable investment in understanding the structure of the genome. Techniques have been greatly simplified over the past 20 years, and whole genome sequencing is now performed as part of patient care. Major advances have thus been made in the interest of patients, but new challenges have also emerged. The limiting factor is no longer knowing the sequence of a patient's genome, but rather confirming the link between a specific DNA variant and the phenotype. The more we advance in this understanding, the more we realize that the simplest situations are now well understood. The purpose of this article is to briefly review the organization of the human genome and the difficulties encountered in confirming the pathogenicity of a variant, using the example of congenital gonadotropin deficiency.","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":"102526"},"PeriodicalIF":2.9,"publicationDate":"2026-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147500905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

How has genetics changed the diagnosis and care of multiple endocrine neoplasia type 2? The merits and pitfalls of a genetic-based diagnostic and therapeutic approach. 遗传学如何改变2型多发性内分泌肿瘤的诊断和治疗？基于基因的诊断和治疗方法的优点和缺陷。

IF 2.9

Annales d'endocrinologie Pub Date : 2026-03-20 DOI: 10.1016/j.ando.2026.102522

Frederic Castinetti, Nicolas Sahakian, Pauline Romanet

引用次数: 0

How has genetics changed the diagnosis and the management of differences of sex development? 遗传学是如何改变性别发育差异的诊断和管理的？

IF 2.9

Annales d'endocrinologie Pub Date : 2026-03-20 DOI: 10.1016/j.ando.2026.102525

Claire Bouvattier, Khadidja Fouatih, Lise Duranteau, Jerôme Bouligand, Laurence Brunet

{"title":"How has genetics changed the diagnosis and the management of differences of sex development?","authors":"Claire Bouvattier, Khadidja Fouatih, Lise Duranteau, Jerôme Bouligand, Laurence Brunet","doi":"10.1016/j.ando.2026.102525","DOIUrl":"https://doi.org/10.1016/j.ando.2026.102525","url":null,"abstract":"Rare differences of sex development (DSD) encompass all medical situations in which chromosomal sex, gonadal development, or external genitalia are atypical. Genetic investigations of these medical conditions, often diagnosed in the neonatal period, have evolved considerably over the past 20 years. Excluding congenital adrenal hyperplasia, whose diagnosis is clinical and hormonal, a genetic diagnosis is done in 2026 in only approximately 35% of DSD children with 46, XY and 46, XX DSD outside CAH, using next-generation sequencing (NGS) or genome analysis. In 2021, for the first time, a legal framework organizing the care of children with a variation in genital development (VGD), sometimes referred to as \"intersex children\" or \"children with differences in sex development\" (DSD), was introduced in France (article L. 2131-6 of the Code of Public Health). The law requires national multidisciplinary case review for any DSD children, except life-saving treatment, and put genetics at the center of the framework. Posterior/proximal hypospadias may, if clinically isolated and with a normal hormonal and genetic profile, fall outside this new framework. Children with 46, XY hypospadias, carrying a pathogenic variant fall within the scope of the law. This subtle distinction, lacking scientific support, makes family care pathways difficult to understand and therefore more distressing.","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":"102525"},"PeriodicalIF":2.9,"publicationDate":"2026-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147500992","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Integrating Genetic Counseling in Endocrine Practice: Prevention, Reproductive Care, and Prenatal Diagnosis. 整合遗传咨询在内分泌实践：预防，生殖保健和产前诊断。

IF 2.9

Annales d'endocrinologie Pub Date : 2026-03-19 DOI: 10.1016/j.ando.2026.102518

Barbara Girerd, Cristina Peduto, Anya Rothenbuhler, Khadidja Fouatih, Anne-Sophie Lambert, Claire Bouvattier, Agnes Linglart

{"title":"Integrating Genetic Counseling in Endocrine Practice: Prevention, Reproductive Care, and Prenatal Diagnosis.","authors":"Barbara Girerd, Cristina Peduto, Anya Rothenbuhler, Khadidja Fouatih, Anne-Sophie Lambert, Claire Bouvattier, Agnes Linglart","doi":"10.1016/j.ando.2026.102518","DOIUrl":"https://doi.org/10.1016/j.ando.2026.102518","url":null,"abstract":"Genetic counseling has become a cornerstone of care in inherited endocrine and metabolic disorders, complementing clinical evaluation with molecular diagnosis and personalized risk assessment. In endocrinology, although many conditions are initially suspected based on clinical and biochemical findings, genetic testing refines diagnosis, clarifies prognosis, and guides long-term management including genetic counselling. Identification of pathogenic variants in genes such as MEN1, NR5A1, GNAS, PHEX, or CYP21A2 enables tailored surveillance, early detection of complications, and cascade screening of at-risk relatives. Beyond individual patient care, genetic counseling plays a pivotal role in reproductive medicine. By explaining inheritance patterns, including autosomal dominant, autosomal recessive, X-linked transmission, and imprinting mechanisms, it allows accurate estimation of recurrence risks and informed reproductive decision-making. Carrier detection, partner screening, prenatal diagnosis, and preimplantation genetic testing are integral components of this approach, particularly in disorders with significant morbidity or variable expressivity. Genetic consultation is also essential in the management of fetal anomalies detected on ultrasound. It supports diagnostic clarification, proposes appropriate molecular investigations, refines prognostic assessment, and addresses recurrence risk in future pregnancies. Importantly, counseling provides psychosocial support, helping families navigate uncertainty and complex medical decisions. Overall, integrating genetic counseling into endocrine practice promotes prevention, optimizes follow-up, enhances reproductive care, and fosters a proactive, family-centered model of management in hereditary endocrine diseases.","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":"102518"},"PeriodicalIF":2.9,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147494826","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0