Annales d'endocrinologie最新文献

{"title":"Genotype-phenotype correlation and challenges in mutation detection in McCune-Albright syndrome: A retrospective study of a French cohort.","authors":"Camille Giannetti, Karine Aouchiche, Arnaud Lagarde, Doriane Barets, Stéphanie Mallet, Sylvie Salenave, Thierry Brue, Rachel Reynaud, Anne Barlier, Pauline Romanet","doi":"10.1016/j.ando.2026.102556","DOIUrl":"https://doi.org/10.1016/j.ando.2026.102556","url":null,"abstract":"<p><strong>Background: </strong>McCune-Albright syndrome MAS is a rare mosaic disorder caused by post-zygotic GNAS 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.</p><p><strong>Methods: </strong>We retrospectively analyzed clinical and genotyping data of patients referred for suspected or clinically diagnosed MAS in a single French center (2014-2025). GNAS 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.</p><p><strong>Results: </strong>We included 405 patients, from which 89 (22%) carried a GNAS 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 (P=0.0055), but was not associated with the overall MAS-related lesion number. No correlation was found between MAF and age at diagnosis.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147856710","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}

{"title":"Y chromosome and male fertility: The AZF genes and their deletion.","authors":"Csilla Krausz, Chiara Abrardo, Judit Vargha, Viola Bonini, Zsolt Kopa","doi":"10.1016/j.ando.2026.102555","DOIUrl":"https://doi.org/10.1016/j.ando.2026.102555","url":null,"abstract":"<p><p>The Y chromosome plays a crucial role in male fertility as it carries genes that are essential for testis development and spermatogenesis. The Yq 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.</p>","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857271","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}

{"title":"Genetic mechanisms of primary aldosteronism.","authors":"May Fayad, Teresa Cosentino, Nicolo' Faedda, Sheerazed Boulkroun, Maria-Christina Zennaro, Fabio L Fernandes-Rosa","doi":"10.1016/j.ando.2026.102558","DOIUrl":"https://doi.org/10.1016/j.ando.2026.102558","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857823","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}

{"title":"Genome architecture in endocrine diseases: X-Linked Acrogigantism (X-LAG) syndrome.","authors":"Adrian F Daly, Albert Beckers, Patrick Pétrossians","doi":"10.1016/j.ando.2026.102554","DOIUrl":"https://doi.org/10.1016/j.ando.2026.102554","url":null,"abstract":"<p><p>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 GPR101 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 GPR101. This process facilitates the formation of a \"neoTAD\", where the GPR101 promoter is driven by ectopic enhancers, primarily an intronic enhancer located within the VGLL1 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.</p>","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857830","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}

{"title":"NGS versus exome versus genome wide: Advantages? Disadvantages?","authors":"Anne Barlier, Jérôme Bouligand","doi":"10.1016/j.ando.2026.102553","DOIUrl":"https://doi.org/10.1016/j.ando.2026.102553","url":null,"abstract":"<p><p>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.</p>","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147856685","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}

{"title":"Genomic newborn screening as a paradigm shift in rare disease management, with emphasis on endocrine conditions.","authors":"Laurence Faivre, Camille Level, Régis Coutant, Patrice Rodien, Anne Barlier, Alexandru Saveanu, Claire Bouvattier, Patricia Bretones, Laetitia Martinerie, Sylvie Rossignol, Camille Lenelle, Florence Roucher, Christine Binquet, Laurent Pasquier, Emeline Davoine, Coline Cormier, Marie Bournez, Raphaelle Maudinas, Maxime Gonnot, Augustin Lefevre, Julien Maraval, Hana Safraou, Yannis Duffourd, Christine Bellanné-Chantelot, Cécile Saint-Martin, Anne Bergougnoux, Delphine Mallet, Jérôme Bouligand, Nicolas de Roux, Lucie Coppin, Gwenaelle Diene, Christine Poitoux, Delphine Prunier, Xavier Dieu, Nelly Burnichon, Sophie Christin-Maitre, Sylvie Jaillard, Erika Launay, Jean-Pierre Rabès, Pascale Benlian, Mathilde Di Filippo, Oriane Marmontel, Christine Poitou Bernert, Corinne Vigouroux, Elise Bismuth, Jacques Beltrand, Michel Polak, Sophie Giraud, Pascal Pigny, Frédérique Savagner, Isabelle Olivier Petit, Jean-Baptiste Arnoux, Sophie Beliard, Marie-Françoise Odou, Pauline Romanet, Arnaud Molin, Andreea Apetrei, Nicolas Richard, Laurence Pacot, Eric Pasmant, Marguerite Hureaux, Rosa Vargas, Mathilde Gay-Bellile, Karine Aouchiche, Alain Carrié, Margaux Chauvet, Antonio Gallo, Julie Lemale, Philippe Moulin, Noël Peretti, Christel Thauvin-Robinet, Frédéric Huet, Véronique Tardy-Guidolet","doi":"10.1016/j.ando.2026.102557","DOIUrl":"https://doi.org/10.1016/j.ando.2026.102557","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Materials and methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":""},"PeriodicalIF":2.9,"publicationDate":"2026-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147857932","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}

{"title":"Appropriate thyroid test ordering: when clinical excellence meets environmental sustainability.","authors":"Damien Gruson, Maria-Cristina Burlacu","doi":"10.1016/j.ando.2026.102561","DOIUrl":"https://doi.org/10.1016/j.ando.2026.102561","url":null,"abstract":"<p><p>Thyroid function tests are one of the most frequently requested laboratory investigations worldwide and a recognized area of over-testing. While inappropriate thyroid testing was traditionally discussed in terms of clinical relevance and economic burden, its environmental impact was largely overlooked. Each unnecessary test contributes to healthcare-related carbon emissions, through patient travel, blood collection, single-use consumables, reagent production, analyzer operating and waste management. In the context of growing commitments toward sustainable healthcare and net-zero emissions, laboratory medicine must reassess not only what is tested, but also why and how often. This article explores the intersection between clinical appropriateness and environmental sustainability in thyroid test ordering. Evidence-based strategies, including TSH-first and reflex testing algorithms, can substantially reduce unnecessary free hormone and antibody measurements while preserving diagnostic accuracy. Furthermore, contextualized reference intervals, particularly in elderly populations and during pregnancy, may reduce overdiagnosis and avoid repeated testing driven by physiological variations. Laboratory stewardship programs are therefore a pragmatic strategy for improving clinical quality while contributing to more sustainable healthcare delivery.</p>","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":"102561"},"PeriodicalIF":2.9,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147824609","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}

{"title":"Prenatal Exposure to Parabens: Associations with Reproductive Hormone Alterations Prenatal Paraben Exposure and Reproductive Hormones.","authors":"Abderrezak Khelfi, Aicha Touati, Ikram Zouaoui, Mohamed Cherifi, Amel Dammene-Debbih, Lounas Benghanem, Youcef Tayebi, Mohamed Azzouz","doi":"10.1016/j.ando.2026.102562","DOIUrl":"https://doi.org/10.1016/j.ando.2026.102562","url":null,"abstract":"<p><strong>Background: </strong>Parabens are ubiquitous in the environment due to their extensive use in food, personal care products and pharmaceuticals. Owing to their estrogenic properties, they are classified as suspected endocrine-disrupting chemicals.</p><p><strong>Objectives: </strong>This study aimed to characterize paraben exposure profiles in umbilical cord blood and to evaluate associations between paraben concentration and reproductive hormone level in pregnant women.</p><p><strong>Material and methods: </strong>A total of 154 pregnant women living in Algiers were recruited. Umbilical cord blood samples were collected immediately after delivery. Reproductive hormones (LH, FSH, testosterone, progesterone, estradiol and prolactin) were quantified by electrochemiluminescence. Methylparaben (MP), ethylparaben (EP), and propylparaben (PP) were measured using liquid chromatography coupled with tandem mass spectrometry.</p><p><strong>Results: </strong>MP, EP and PP were detected in 88.3%, 74.0% and 85.1% of samples, respectively, with mean concentrations of 1,420 ± 1,085, 1,193 ± 1,196, and 1,402 ± 1,308 ng/mL. Significant negative associations were found between MP and both FSH (β = -0.051) and estradiol (β = -1173.862). MP and PP concentrations were inversely associated with testosterone level (β = -0.248 and β = -0.239, respectively). EP concentrations showed a significant negative correlation with prolactin (β = -854.906). Sex-stratified analyses revealed distinct patterns. In male neonates, MP was inversely associated with FSH and EP was negatively associated with prolactin. In female neonates, MP was inversely associated with estradiol and testosterone, while PP was also negatively associated with testosterone. No significant associations were observed between parabens and luteinizing hormone or progesterone in either sex.</p><p><strong>Conclusion: </strong>Prenatal exposure to parabens is associated with alterations in reproductive hormone levels, which may have adverse consequences for newborn health.</p>","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":"102562"},"PeriodicalIF":2.9,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147824528","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}

{"title":"Efficacy and Safety of Radiofrequency Ablation for Secondary Hyperparathyroidism: A Systematic Review and Single-Arm Meta-Analysis.","authors":"Mohamed Sherif Ali Ahmed, Ahmed Hamouda, Hassan Magdy, Mohamed Attia Elfadali, Mohamed Hamouda Elkasaby, Mohamed Ehab Eldesoky, Mahmoud M Elsayed, Mohamed Elhawary","doi":"10.1016/j.ando.2026.102549","DOIUrl":"https://doi.org/10.1016/j.ando.2026.102549","url":null,"abstract":"<p><strong>Background: </strong>Radiofrequency ablation (RFA) has emerged as a minimally invasive alternative to surgery for secondary hyperparathyroidism (SHPT), but efficacy and safety are still under evaluation. This meta-analysis assesses the effectiveness and complications of ultrasound-guided RFA in SHPT.</p><p><strong>Methods: </strong>We searched PubMed, Scopus, Web of Science, and the Cochrane Library from inception to February 10, 2025, for studies enrolling dialysis patients with SHPT treated by ultrasound-guided RFA. We included observational cohorts and case series (≥10 patients) with ≥6 month's follow-up, reporting changes in intact parathyroid hormone (iPTH), serum calcium or phosphorus; conference Abstracts, case reports, non-human studies, and non-English-language publications were excluded. Random-effects models were used to pool standardized mean differences (SMDs) and complication rates; heterogeneity was assessed using I².</p><p><strong>Results: </strong>Eight retrospective studies (n = 349) were included. RFA was associated with significant reductions in iPTH at 1 day (SMD = -2.64, 95% CI -3.72 to -1.56; p < 0.00001), 6 months (SMD = -2.09, 95% CI -2.54 to -1.64; p < 0.00001), 12 months (SMD = -1.76, 95% CI -2.17 to -1.35; p < 0.00001), and at final follow-up (SMD = -1.47, 95% CI -1.85 to -1.09; p < 0.00001). Serum calcium decreased at 1 day (SMD = -1.26, 95% CI -2.22 to -0.30; p = 0.010), 6 months (SMD = -0.98, 95% CI -1.35 to -0.61; p < 0.00001), 12 months (SMD = -1.15, 95% CI -1.49 to -0.82; p < 0.00001), and final follow-up (SMD = -1.24, 95% CI -2.21 to -0.28; p = 0.010). Serum phosphorus also decreased at 1 day (SMD = -1.25, 95% CI -2.21 to -0.30; p = 0.010), 6 months (SMD = -0.77, 95% CI -1.03 to -0.51; p < 0.00001), 12 months (SMD = -0.73, 95% CI -0.95 to -0.50; p < 0.00001), and final follow-up (SMD = -0.75, 95% CI -1.01 to -0.49; p < 0.00001). Pooled complication rates included hypocalcemia (0.447, 95% CI 0.211-0.682), hoarseness (0.056, 95% CI 0.019-0.093), and recurrent laryngeal nerve injury/paralysis (0.027, 95% CI 0.000-0.066), with substantial heterogeneity in outcomes.</p><p><strong>Conclusion: </strong>RFA is an effective and safe alternative to parathyroidectomy for SHPT, with significant biochemical improvements and low risk of permanent complications. Long-term clinical trials are needed before drawing solid conclusions.</p>","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":"102549"},"PeriodicalIF":2.9,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147791970","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}

{"title":"LDL cholesterol calculation methods and their influence on the indications for cholesterol-lowering treatment.","authors":"Sébastien Magnifico, Charlotte Durand-Maugard, Agnès Boullier, Rachel Desailloud, Antoine Galmiche, Abdallah Al-Salameh","doi":"10.1016/j.ando.2026.102560","DOIUrl":"https://doi.org/10.1016/j.ando.2026.102560","url":null,"abstract":"<p><strong>Introduction: </strong>The Friedewald equation is problematic at high triglyceride or low LDL-c levels. Alternatives, such as the Martin-Hopkins or Sampson-NIH equations, have been proposed. This study aims to compare LDL-c estimates derived from these 3 equations with directly measured LDL-c and to assess whether the choice of equation affects clinical management.</p><p><strong>Methods: </strong> LDL-c levels calculated on the 3 equations were compared with measured LDL values. Comparisons were stratified by total triglyceride (TG) (0-400 mg/dL, 400-800 mg/dL and >800 mg/dL) and LDL-c levels (below or above 70 mg/dL). Random samples were selected from each category (TG 0-400 mg/dL, TG 400-800 mg/dL and LDL-c <70 mg/dL) and the misclassification rates attributable to each equation were determined in subjects in secondary prevention.</p><p><strong>Results: </strong> In subjects with TG 0-400 mg/dL, the misclassification rate was 4.4% on Sampson-NIH, 4.9% on Martin-Hopkins and 6.4% on Friedewald. In subjects with TG 400-800 mg/dL, rates were 7.4%, 3.7% and 14.8%, respectively. In subjects with LDL-c <70mg/dL, rates were 14.7%, 14.7% and 17.6%, respectively.</p><p><strong>Conclusion: </strong> This study demonstrated that the 3 methods performed very well in subjects with TG 0-400 mg/dl, relatively well for TG 400-800 mg/dL and less well for LDL-c <70 mg/dL. However, the Sampson and Martin-Hopkins equations were less prone to therapeutic misclassification errors than the Friedewald equation.</p>","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":"102560"},"PeriodicalIF":2.9,"publicationDate":"2026-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147792002","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}