Annales d'endocrinologie最新文献

{"title":"Colchicine as an adjunctive therapy in steroid-dependent recurrent subacute thyroiditis: A case report","authors":"Burcak Cavnar Helvaci, Mustafa Ozbek, Erman Cakal","doi":"10.1016/j.ando.2026.102488","DOIUrl":"10.1016/j.ando.2026.102488","url":null,"abstract":"","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 2","pages":"Article 102488"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146101117","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":"Genotype–phenotype correlation and challenges in mutation detection in McCune–Albright syndrome: A retrospective study of a French cohort","authors":"Camille Giannetti ,&nbsp;Karine Aouchiche ,&nbsp;Arnaud Lagarde ,&nbsp;Doriane Barets ,&nbsp;Stéphanie Mallet ,&nbsp;Sylvie Salenave ,&nbsp;Thierry Brue ,&nbsp;Rachel Reynaud ,&nbsp;Anne Barlier ,&nbsp;Pauline Romanet","doi":"10.1016/j.ando.2026.102514","DOIUrl":"10.1016/j.ando.2026.102514","url":null,"abstract":"<div><h3>Background</h3><div>McCune–Albright syndrome MAS is a rare mosaic disorder caused by post-zygotic <em>GNAS</em> activating mutations. MAS is characterized by fibrous dysplasia (FD) of the skeleton, café-au-lait skin macules, and hyperfunctioning endocrinopathies such as precocious puberty, thyroid disease, growth hormone excess, and FGF23-mediated phosphate wasting. Mosaicism leads to marked clinical heterogeneity and complicates molecular diagnosis.</div></div><div><h3>Methods</h3><div>We retrospectively analyzed clinical and genotyping data of patients referred for suspected or clinically diagnosed MAS in a single French center (2014–2025). <em>GNAS</em> R201C and R201H mutations were detected by digital droplet PCR using peripheral blood as first-line samples, with additional testing of circulating cell-free, saliva, or tissue when indicated.</div></div><div><h3>Results</h3><div>We included 405 patients, from which 89 (22%) carried a <em>GNAS</em> mutation (52 R201C, 37 R201H). No significant clinical differences were observed between R201C and R201H. Among 578 analyzed samples, mutation detection varied by sample type, with the highest rates in tissue. Mutant allele frequency (MAF) in blood DNA was higher in patients with polyostotic than in monostotic FD (<em>P</em> <!-->=<!--> <!-->0.0055), but was not associated with the overall MAS-related lesion number. No correlation was found between MAF and age at diagnosis.</div></div><div><h3>Conclusions</h3><div>MAS shows substantial clinical and molecular heterogeneity without clear genotype–phenotype differences between R201 variants. Mutation detection strongly depends on sample type, reflecting disease mosaicism. A multimodal diagnostic strategy and larger collaborative cohorts are needed to optimize molecular diagnosis and refine genotype–phenotype correlations in MAS patients.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 2","pages":"Article 102514"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147494819","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":"Y chromosome and male fertility: The AZF genes and their deletion","authors":"Csilla Krausz ,&nbsp;Chiara Abrardo ,&nbsp;Judit Vargha ,&nbsp;Viola Bonini ,&nbsp;Zsolt Kopa","doi":"10.1016/j.ando.2026.102512","DOIUrl":"10.1016/j.ando.2026.102512","url":null,"abstract":"<div><div>The Y chromosome plays a crucial role in male fertility as it carries genes that are essential for testis development and spermatogenesis. The <em>Yq</em> gene content can be disrupted by microdeletions of AZoospermia Factor (AZF) regions, leading to impaired sperm production and influencing the likelihood of successful testicular sperm extraction (TESE) in azoospermic men. Here, we review the available evidence on TESE outcomes according to deletion type and integrate it with our original data. Our findings confirm that among complete AZF deletions, only AZFc deletions are associated with positive TESE outcomes, resulting in an overall success rate of 58.85%. Conversely, the semen and testicular phenotypes vary considerably in cases of partial AZFa and AZFb deletions. For this reason, accurately defining the extent of these deletions — and thereby distinguishing between complete and partial deletions — is of pivotal importance. AZF screening is the only currently available pre-TESE predictive test. Finally, we address the clinical implications of the various AZF deletions, including genetic counselling.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 2","pages":"Article 102512"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147494850","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":"Assessment of hypothalamic syndrome in adult craniopharyngioma patients","authors":"Beatriz Tavares da Silva ,&nbsp;Ana Rita Neves ,&nbsp;Maria Teresa Pereira ,&nbsp;Carolina Noronha ,&nbsp;Isabel Ribeiro ,&nbsp;Cláudia Amaral","doi":"10.1016/j.ando.2026.102507","DOIUrl":"10.1016/j.ando.2026.102507","url":null,"abstract":"<div><div>Hypothalamic syndrome (HS) is a rare and severe complication of craniopharyngioma (CP). Diagnostic criteria have been reported for pediatric patients, but no validated criteria exist for adults, limiting clinical recognition and comparability between studies. The present study applied van Santen et al.’s pediatric criteria for HS to an adult cohort with CP, assessing clinical relevance and estimating HS prevalence in this population. We performed a cross-sectional study of adults with histologically confirmed CP followed in a tertiary center. Clinical, biochemical and neuroimaging data were extracted from medical records. Hypothalamic involvement was classified on Müller grade. HS was assessed on van Santen criteria; weight trajectory, hyperphagia, sleep dysregulation, behavioral symptoms, autonomic dysfunction and daytime somnolence. Effect sizes and proportions were calculated accordingly. Twenty-one patients (57.1% female; median age at diagnosis 24.0 years) were included. Most tumors showed limited hypothalamic involvement, with 76.2% Müller grade 0 and no grade 2. Obesity was common (47.6%), but with no hyperphagia. Only 1 patient (4.8%) met the full diagnostic definition of HS. In this adult cohort, characterized by predominantly non-invasive tumors with minimal hypothalamic involvement, prevalence of HS was low on pediatric-derived diagnostic criteria. These findings suggest that van Santen et al.’s criteria have limited sensitivity in adults and that cohort composition, particularly a low rate of hypothalamic invasion, strongly influences HS detection. Larger and more heterogeneous adult cohorts are needed to validate and refine diagnostic criteria for HS in adulthood.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 2","pages":"Article 102507"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147464467","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":"NGS versus exome versus genome wide: Advantages? Disadvantages?","authors":"Anne Barlier ,&nbsp;Jérôme Bouligand","doi":"10.1016/j.ando.2026.102508","DOIUrl":"10.1016/j.ando.2026.102508","url":null,"abstract":"<div><div>The technical development of automated Sanger sequencing in the 2000s followed by next-generation sequencing (NGS) in the 2010s, has enabled significant advancements in the molecular diagnosis of inherited diseases. The launch of France's first National Rare Diseases Plan in 2011 further supported the establishment of rare disease centers and networks of rare diseases. Concurrently, NGS platform were integrated into molecular biology laboratories, enabling the first diagnoses using Targeted Exome Sequencing (TES) (gene panel). These approaches have been progressively implemented at very high throughput, evolving from Whole Exome Sequencing (WES, which analyzes all coding regions of the human genome) to Whole Genome Sequencing (WGS), the latter being integrated into the France Genomic Medicine 2025 plan initiated in 2016. In this review, we compare TES, WES, and WGS, and discuss their respective advantages, limitations, and future prospects, as well as their applications in the field of endocrinology.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 2","pages":"Article 102508"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147494865","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":"What are circulating nucleic acids?","authors":"Jean-Michel Dupont,&nbsp;Bérénice Hervé,&nbsp;Aurélie Coussement,&nbsp;Hoda Zahi,&nbsp;Thierry Bienvenu","doi":"10.1016/j.ando.2026.102513","DOIUrl":"10.1016/j.ando.2026.102513","url":null,"abstract":"","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 2","pages":"Article 102513"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147647834","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":"Acute liver injury associated with tirzepatide: An unexpected adverse event warranting clinical attention","authors":"Bayan Alqarni ,&nbsp;Shaher Aldadi ,&nbsp;Awatef Alotaibi","doi":"10.1016/j.ando.2026.102485","DOIUrl":"10.1016/j.ando.2026.102485","url":null,"abstract":"<div><div>Tirzepatide is a novel dual glucose-dependent insulinotropic polypeptide (GIP) and glucagon-like peptide-1 (GLP-1) receptor agonist approved for the treatment of type-2 diabetes and for weight management. While generally well-tolerated, common adverse effects include gastrointestinal symptoms such as nausea and vomiting. Hepatotoxicity is not a widely recognized complication of tirzepatide, and reported cases of liver injury are exceedingly rare. As its use expands beyond diabetic populations, emerging safety concerns are increasingly relevant to clinical practice. We report a case of a young, previously healthy female who developed acute hepatocellular liver injury several months after initiating tirzepatide therapy for weight loss. Following dose escalation, she experienced recurrent episodes of abdominal pain radiating to the back. Workup revealed a hepatocellular pattern of injury, with exclusion of viral, autoimmune, biliary or structural causes. Symptoms resolved and liver enzymes normalized within 3<!--> <!-->weeks of presentation. This case adds to the limited but growing body of literature on tirzepatide-associated hepatotoxicity and emphasizes the importance of considering drug-induced liver injury even with newer agents believed to have favorable safety profiles.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 2","pages":"Article 102485"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145949439","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":"Genome architecture in endocrine diseases: X-linked acrogigantism (X-LAG) syndrome","authors":"Adrian F. Daly,&nbsp;Albert Beckers,&nbsp;Patrick Pétrossians","doi":"10.1016/j.ando.2026.102511","DOIUrl":"10.1016/j.ando.2026.102511","url":null,"abstract":"<div><div>X-linked acrogigantism (X-LAG) is a rare disease that represents a severe form of pituitary gigantism characterized by early-onset growth hormone (GH), insulin-like growth factor 1 (IGF1) and prolactin excess. X-LAG is associated with duplications involving the gene <em>GPR101</em> on chromosome Xq26.3. Clinically, X-LAG manifests in infancy, with a median age at onset of 18 months, presenting as rapid linear growth, acral enlargement, and large pituitary macroadenomas. While predominantly a sporadic disease affecting females through constitutional duplications, somatic mosaicism is found in sporadic male cases. Three familial cases of X-LAG have been described. Management is difficult due to the young age of affected patients and the relative resistance of GH excess to somatostatin analogs. Multimodal therapy, including neurosurgery and medical therapy such as pegvisomant, is often required to achieve hormonal control and limit final adult height. Unlike other genetic forms of pituitary tumorigenesis that are due to sequence-based mutations, X-LAG is caused by structural changes in 3D genome architecture. Specifically, microduplications on chromosome Xq26.3 disrupt a topologically associating domain (TAD) containing <em>GPR101</em>. This process facilitates the formation of a “neoTAD”, where the <em>GPR101</em> promoter is driven by ectopic enhancers, primarily an intronic enhancer located within the <em>VGLL1</em> gene, leading to massive pituitary upregulation of this constitutively active receptor and GH excess. X-LAG is an example of how novel disease mechanisms can explain the molecular dysregulation behind rare and difficult to manage endocrine pathologies.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 2","pages":"Article 102511"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147522950","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":"Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions","authors":"Laurence Faivre ,&nbsp;Camille Level ,&nbsp;Régis Coutant ,&nbsp;Patrice Rodien ,&nbsp;Anne Barlier ,&nbsp;Alexandru Saveanu ,&nbsp;Claire Bouvattier ,&nbsp;Patricia Bretones ,&nbsp;Laetitia Martinerie ,&nbsp;Sylvie Rossignol ,&nbsp;Camille Lenelle ,&nbsp;Florence Roucher ,&nbsp;Christine Binquet ,&nbsp;Laurent Pasquier ,&nbsp;Emeline Davoine ,&nbsp;Coline Cormier ,&nbsp;Marie Bournez ,&nbsp;Raphaelle Maudinas ,&nbsp;Maxime Gonnot ,&nbsp;Augustin Lefevre ,&nbsp;Véronique Tardy-Guidolet","doi":"10.1016/j.ando.2026.102517","DOIUrl":"10.1016/j.ando.2026.102517","url":null,"abstract":"<div><h3>Introduction</h3><div>Genome sequencing (GS) is reshaping newborn screening (NBS) by enabling the early detection of a broader range of rare, treatable and/or actionable disorders. In the context of rapid therapeutic advances, international pilot programs — many coordinated within the International Consortium on Newborn Sequencing (ICoNS) — are evaluating genome-based NBS (gNBS) as a preventive public health strategy.</div></div><div><h3>Materials and methods</h3><div>We reviewed published international gNBS pilot studies, with particular attention to discussions related to endocrine disorders. We integrated insights from the French PERIGENOMED-CLINICS 1 (PGC1) project, including its curated gene list and collaboration mainly with the FIRENDO French network dedicated to rare endocrine diseases.</div></div><div><h3>Results</h3><div>No publications were identified specifically addressing gNBS in rare pediatric endocrine diseases as a unified domain. In comparative analyses of gNBS pilot programs, endocrine disorders represented approximately 10% of included conditions, with marked heterogeneity across initiatives and no primary endocrine disorder uniformly retained. Analysis of the PGC1 dataset identified 125 endocrine and endocrine-adjacent gene–disease dyads (14% of all project dyads), divided into list 1 (“treatable”, n<!--> <!-->=<!--> <!-->62) and list 2 (“actionable”, n<!--> <!-->=<!--> <!-->63). List 1 predominantly included early-onset, hormonally driven disorders, whereas list 2 extended toward obesity-related and multisystem syndromic conditions. Stratification by clinical actionability revealed four categories ranging from time-critical neonatal conditions to surveillance-driven and long-term risk phenotypes, underscoring substantial variability in timing of intervention, penetrance, and level of evidence supporting early benefit.</div></div><div><h3>Conclusion</h3><div>Genomic NBS is transforming rare disease management, including endocrine diseases, by enabling earlier diagnosis, precision care, and coordinated professional and family-based interventions, marking a paradigm shift in population health.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 2","pages":"Article 102517"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147494837","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":"Genetic mechanisms of primary aldosteronism","authors":"May Fayad ,&nbsp;Teresa Cosentino ,&nbsp;Nicolo’ Faedda ,&nbsp;Sheerazed Boulkroun ,&nbsp;Maria-Christina Zennaro ,&nbsp;Fabio L. Fernandes-Rosa","doi":"10.1016/j.ando.2026.102520","DOIUrl":"10.1016/j.ando.2026.102520","url":null,"abstract":"<div><div>Primary aldosteronism (PA) represents the leading cause of secondary hypertension, resulting from autonomous aldosterone production driven in the majority of cases by a lateralized aldosterone-producing adenoma or by bilateral adrenal hyperplasia. Its frequency increases in parallel with hypertension severity, reaching a prevalence of up to 25% of patients with treatment resistant hypertension. Advances in our understanding on the genetic causes of PA have reshaped our understanding of the pathogenesis of the disease, revealing a broad spectrum of somatic and inherited mutations across most aldosterone-producing adenomas as well as familial forms of the disorder. More recently, susceptibility loci shared between unilateral and bilateral PA, and overlapping with known blood-pressure associated variants, have been identified, highlighting genetic susceptibility that extends beyond PA to hypertension in the general population. Associated with clinical and biochemical evidence of a continuum of aldosterone dysregulation in hypertension, these discoveries suggest that common genetic variants may drive aldosterone dysregulation in a large fraction of hypertensive subjects leading, in extreme cases, to overt PA.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 2","pages":"Article 102520"},"PeriodicalIF":2.9,"publicationDate":"2026-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147500908","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}