首页 > 最新文献

Annales d'endocrinologie最新文献

英文 中文
Acknowledging our 2025 reviewers 感谢我们的2025位审稿人
IF 2.9 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2026-02-01 Epub Date: 2026-03-07 DOI: 10.1016/j.ando.2026.102495
{"title":"Acknowledging our 2025 reviewers","authors":"","doi":"10.1016/j.ando.2026.102495","DOIUrl":"10.1016/j.ando.2026.102495","url":null,"abstract":"","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 1","pages":"Article 102495"},"PeriodicalIF":2.9,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147396567","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}
引用次数: 0
Management of dyslipidemia in adults. A consensus statement from the French Society of Endocrinology (SFE), the French-speaking Diabetes Society (SFD), the New French-speaking Society of Atherosclerosis (NSFA) and the French Society of Cardiology (SFC) 成人血脂异常的管理。法国内分泌学会(SFE)、法语糖尿病学会(SFD)、新法语动脉粥样硬化学会(NSFA)和法国心脏病学会(SFC)的共识声明。
IF 2.9 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2026-02-01 Epub Date: 2025-11-19 DOI: 10.1016/j.ando.2025.102471
Benjamin Bouillet , Romain Boulestreau , Victor Aboyans , Sophie Béliard , Franck Boccara , Bertrand Cariou , Sybil Charrière , Philippe Moulin , Bruno Vergès , Rene Valero , Antonio Gallo
{"title":"Management of dyslipidemia in adults. A consensus statement from the French Society of Endocrinology (SFE), the French-speaking Diabetes Society (SFD), the New French-speaking Society of Atherosclerosis (NSFA) and the French Society of Cardiology (SFC)","authors":"Benjamin Bouillet , Romain Boulestreau , Victor Aboyans , Sophie Béliard , Franck Boccara , Bertrand Cariou , Sybil Charrière , Philippe Moulin , Bruno Vergès , Rene Valero , Antonio Gallo","doi":"10.1016/j.ando.2025.102471","DOIUrl":"10.1016/j.ando.2025.102471","url":null,"abstract":"","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 1","pages":"Article 102471"},"PeriodicalIF":2.9,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146215425","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}
引用次数: 0
Therapeutic advances in Graves’ orbitopathy: From corticosteroids to targeted immunotherapy — Insights from the TOGO and THRIVE trials Graves眼病的治疗进展:从皮质类固醇到靶向免疫治疗——来自TOGO和THRIVE试验的见解。
IF 2.9 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2026-02-01 Epub Date: 2025-12-30 DOI: 10.1016/j.ando.2025.102479
Miriam Ladsous, Philippe Caron
{"title":"Therapeutic advances in Graves’ orbitopathy: From corticosteroids to targeted immunotherapy — Insights from the TOGO and THRIVE trials","authors":"Miriam Ladsous, Philippe Caron","doi":"10.1016/j.ando.2025.102479","DOIUrl":"10.1016/j.ando.2025.102479","url":null,"abstract":"","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 1","pages":"Article 102479"},"PeriodicalIF":2.9,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145890611","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}
引用次数: 0
Letter to the editor: Cost utility of second-line acromegaly treatment in France (Raverot et al., 2025) 致编辑的信:法国二线肢端肥大症治疗的成本效用(Raverot et al., 2025)
IF 2.9 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2026-02-01 Epub Date: 2026-01-02 DOI: 10.1016/j.ando.2025.102480
Dédé Sika Kossi
{"title":"Letter to the editor: Cost utility of second-line acromegaly treatment in France (Raverot et al., 2025)","authors":"Dédé Sika Kossi","doi":"10.1016/j.ando.2025.102480","DOIUrl":"10.1016/j.ando.2025.102480","url":null,"abstract":"","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 1","pages":"Article 102480"},"PeriodicalIF":2.9,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146023229","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}
引用次数: 0
Refractory hypothyroidism: Diagnostic evaluation and management strategies 难治性甲状腺功能减退:诊断评估和管理策略。
IF 2.9 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2026-02-01 Epub Date: 2026-02-03 DOI: 10.1016/j.ando.2026.102489
Maria Mavromati , Patrick Jarlborg , Marco Demarchi , Sophie Leboulleux
The term refractory hypothyroidism is used to describe the condition in which patients require levothyroxine doses higher than expected for their age and weight (> 1.9–2.5 μg/kg/day). Its prevalence is not well defined. Refractory hypothyroidism is not related to thyroid hormone resistance, while most common causes include non-compliance (also known as pseudo-malabsorption) and malabsorption. Malabsorption can be caused by food and/or medication interactions as well as digestive pathologies such as gastritis, coeliac disease, lactose intolerance, or a history of digestive surgery. Less commonly, refractory hypothyroidism is caused by increased thyroid hormone degradation due to elevated expression of type 3 deiodinase, typically related to hemangiomatous tumors or tyrosine kinase inhibitors treatment. Medical history and clinical examination will help to guide the diagnosis and etiological investigations. Screening for associated deficiencies and digestive auto immune diseases can direct the diagnosis towards a digestive pathology. A levothyroxine absorption test may be performed to confirm true malabsorption and avoid more invasive tests such as digestive endoscopies.
“难治性甲状腺功能减退”一词用于描述患者需要的左甲状腺素剂量高于其年龄和体重的预期剂量(1.9-2.5 μg/kg/天)的情况。其流行程度尚不明确。顽固性甲状腺功能减退症与甲状腺激素抵抗无关,而最常见的原因包括不顺应性(也称为假性吸收)和吸收不良。吸收不良可由食物和/或药物相互作用以及消化系统疾病如胃炎、乳糜泻、乳糖不耐症或消化系统手术史引起。不太常见的是,顽固性甲状腺功能减退症是由3型脱碘酶表达升高引起的甲状腺激素降解增加引起的,通常与血管瘤肿瘤或酪氨酸激酶抑制剂治疗有关。病史和临床检查将有助于指导诊断和病因调查。筛选相关的缺陷和消化自身免疫疾病可以直接诊断为消化病理。可进行左甲状腺素吸收试验以确认真正的吸收不良,避免更多的侵入性检查,如消化内窥镜检查。
{"title":"Refractory hypothyroidism: Diagnostic evaluation and management strategies","authors":"Maria Mavromati ,&nbsp;Patrick Jarlborg ,&nbsp;Marco Demarchi ,&nbsp;Sophie Leboulleux","doi":"10.1016/j.ando.2026.102489","DOIUrl":"10.1016/j.ando.2026.102489","url":null,"abstract":"<div><div>The term refractory hypothyroidism is used to describe the condition in which patients require levothyroxine doses higher than expected for their age and weight (&gt; 1.9–2.5<!--> <!-->μg/kg/day). Its prevalence is not well defined. Refractory hypothyroidism is not related to thyroid hormone resistance, while most common causes include non-compliance (also known as pseudo-malabsorption) and malabsorption. Malabsorption can be caused by food and/or medication interactions as well as digestive pathologies such as gastritis, coeliac disease, lactose intolerance, or a history of digestive surgery. Less commonly, refractory hypothyroidism is caused by increased thyroid hormone degradation due to elevated expression of type 3 deiodinase, typically related to hemangiomatous tumors or tyrosine kinase inhibitors treatment. Medical history and clinical examination will help to guide the diagnosis and etiological investigations. Screening for associated deficiencies and digestive auto immune diseases can direct the diagnosis towards a digestive pathology. A levothyroxine absorption test may be performed to confirm true malabsorption and avoid more invasive tests such as digestive endoscopies.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 1","pages":"Article 102489"},"PeriodicalIF":2.9,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146127732","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}
引用次数: 0
Sertoli cell-only syndrome (Del Castillo syndrome): Past, present and future 仅支持细胞综合征(德尔卡斯蒂略综合征):过去,现在和未来。
IF 2.9 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2026-02-01 Epub Date: 2026-01-02 DOI: 10.1016/j.ando.2025.102481
Hernan Valdes-Socin , Amélie Parisel , Luc Coppens , Laurie Henry , Olivier Gaspard , Maxime Sempels , Patrick Petrossians
Del Castillo, Trabucco and De la Balze syndrome was described in five patients in Buenos Aires in 1947. Secondary sexual characteristics and urological examination were normal, except for small testicle volume (“the size of an olive”). Treatment with hCG was ineffective. On testicular biopsy, only Sertoli cells and seminiferous tubules were detected, with no spermatozoa or spermatogonia. For this reason, it is currently known as testicular germ cell aplasia or Sertoli cell-only syndrome (SCOS). SCOS is the most severe histological phenotype of male infertility, associated with non-obstructive azoospermia and low testicular volume. This review provides a comprehensive synthesis of the historical background, clinical presentation, hormonal and histological features, genetic underpinnings and emerging therapeutic perspectives in SCOS.
Del Castillo, Trabucco和De la Balze综合征是1947年在布宜诺斯艾利斯的五名患者身上发现的。第二性征和泌尿检查正常,除了睾丸体积小(“橄榄大小”)。hCG治疗无效。在睾丸活检中,仅检测到支持细胞和精小管,未发现精子或精原细胞。因此,它目前被称为睾丸生殖细胞发育不全或仅支持细胞综合征(SCOS)。SCOS是男性不育最严重的组织学表型,与非阻塞性无精子症和低睾丸体积有关。本文综述了SCOS的历史背景、临床表现、激素和组织学特征、遗传基础和新兴治疗观点。
{"title":"Sertoli cell-only syndrome (Del Castillo syndrome): Past, present and future","authors":"Hernan Valdes-Socin ,&nbsp;Amélie Parisel ,&nbsp;Luc Coppens ,&nbsp;Laurie Henry ,&nbsp;Olivier Gaspard ,&nbsp;Maxime Sempels ,&nbsp;Patrick Petrossians","doi":"10.1016/j.ando.2025.102481","DOIUrl":"10.1016/j.ando.2025.102481","url":null,"abstract":"<div><div>Del Castillo, Trabucco and De la Balze syndrome was described in five patients in Buenos Aires in 1947. Secondary sexual characteristics and urological examination were normal, except for small testicle volume (“the size of an olive”). Treatment with hCG was ineffective. On testicular biopsy, only Sertoli cells and seminiferous tubules were detected, with no spermatozoa or spermatogonia. For this reason, it is currently known as testicular germ cell aplasia or Sertoli cell-only syndrome (SCOS). SCOS is the most severe histological phenotype of male infertility, associated with non-obstructive azoospermia and low testicular volume. This review provides a comprehensive synthesis of the historical background, clinical presentation, hormonal and histological features, genetic underpinnings and emerging therapeutic perspectives in SCOS.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 1","pages":"Article 102481"},"PeriodicalIF":2.9,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145901789","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}
引用次数: 0
Reassessing paraben – thyroid associations in pregnancy: The need for longitudinal, mixture-based and mechanistic approaches 重新评估妊娠对羟基苯甲酸酯与甲状腺的关系:需要纵向的、混合的和机械的方法
IF 2.9 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2026-02-01 Epub Date: 2025-10-15 DOI: 10.1016/j.ando.2025.102465
Parth Aphale, Shashank Dokania, Himanshu Shekhar
{"title":"Reassessing paraben – thyroid associations in pregnancy: The need for longitudinal, mixture-based and mechanistic approaches","authors":"Parth Aphale,&nbsp;Shashank Dokania,&nbsp;Himanshu Shekhar","doi":"10.1016/j.ando.2025.102465","DOIUrl":"10.1016/j.ando.2025.102465","url":null,"abstract":"","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 1","pages":"Article 102465"},"PeriodicalIF":2.9,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145733343","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}
引用次数: 0
Prevalence, risk factors and management of bone complications in Cushing's syndrome across Europe. Data from the European Registry on Cushing's syndrome (ERCUSYN) 库欣综合征在欧洲的患病率、危险因素和骨并发症的管理。数据来自欧洲库欣综合征登记处(ERCUSYN)。
IF 2.9 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2026-02-01 Epub Date: 2026-02-03 DOI: 10.1016/j.ando.2026.102490
Aleksandra Zdrojowy-Wełna , Claudia Amaral , Marta Araujo-Castro , Nienke Biermasz , Marek Bolanowski , Jens Bollerslev , Thierry Brue , Davide Carvalho , Frederic Castinetti , Filippo Ceccato , Justine Cristante , Daniela Dadej , Mario Detomas , Timo Deutschbein , Emanuele Ferrante , Atanaska Elenkova , Joan Gil , Ezio Ghigo , Aleksandra Gilis-Januszewska , Roberta Giordano , Elena Valassi

Objective

The aim of the study was to investigate bone comorbidities and their management in patients included in the European Register on Cushing's syndrome (ERCUSYN).

Design

A retrospective multicentric cohort study and on-line survey.

Methods

We analyzed the prevalence of osteoporosis (OP) and fractures among 1682 patients with Cushing's syndrome (CS), at initial evaluation and during follow-up. All the ERCUSYN partners received a survey addressing bone disease management in CS.

Results

Seven hundred and sixty-six patients (45%) had DXA examination at baseline, of whom 157 (21%) presented OP at spine and 103 (13%) at hip. Risk factors for OP were older age (P = 0.038) and lower BMI (P = 0.022). An X-ray was performed in 492 (29%) patients and fracture was detected in 87 (18%). Risk factors for fractures at baseline were male sex (P < 0.001), muscle weakness (P = 0.026) and bone mineral density (BMD) at hip indicating OP (P = 0.026). During follow-up, spine BMD deterioration was more common in older patients (P = 0.005) and in those with diabetes mellitus (P = 0.024), while worsening of hip BMD was more frequent in patients with hypopituitarism (P = 0.021), diabetes mellitus (P = 0.034), on levothyroxine substitution (P = 0.008) and those less often treated with anti-osteoporotic agents (P = 0.022). The survey evidenced significant heterogeneity in terms of timing of bone evaluation and treatment initiation.

Conclusions

A significant number of patients with CS experienced OP and fractures. Clinical factors may help to select patients at the highest risk. There are currently no standards of care for the management of bone complications in CS across Europe.
目的:本研究的目的是调查欧洲库欣综合征(ERCUSYN)登记患者的骨骼合并症及其管理。设计:回顾性多中心队列研究和在线调查。方法:分析1682例库欣综合征(CS)患者在初始评估和随访期间骨质疏松症(OP)和骨折的患病率。所有ERCUSYN合作伙伴都收到了一份关于CS骨病管理的调查。结果:766例患者(45%)在基线时进行了DXA检查,其中157例(21%)出现脊柱OP, 103例(13%)出现髋关节OP。OP的危险因素为年龄较大(p=0.038)和BMI较低(p=0.022)。492例(29%)患者接受x线检查,87例(18%)患者发现骨折。基线时发生骨折的危险因素为男性(p)。结论:大量CS患者发生OP和骨折。临床因素可能有助于选择风险最高的患者。目前在整个欧洲,CS的骨并发症管理没有护理标准。
{"title":"Prevalence, risk factors and management of bone complications in Cushing's syndrome across Europe. Data from the European Registry on Cushing's syndrome (ERCUSYN)","authors":"Aleksandra Zdrojowy-Wełna ,&nbsp;Claudia Amaral ,&nbsp;Marta Araujo-Castro ,&nbsp;Nienke Biermasz ,&nbsp;Marek Bolanowski ,&nbsp;Jens Bollerslev ,&nbsp;Thierry Brue ,&nbsp;Davide Carvalho ,&nbsp;Frederic Castinetti ,&nbsp;Filippo Ceccato ,&nbsp;Justine Cristante ,&nbsp;Daniela Dadej ,&nbsp;Mario Detomas ,&nbsp;Timo Deutschbein ,&nbsp;Emanuele Ferrante ,&nbsp;Atanaska Elenkova ,&nbsp;Joan Gil ,&nbsp;Ezio Ghigo ,&nbsp;Aleksandra Gilis-Januszewska ,&nbsp;Roberta Giordano ,&nbsp;Elena Valassi","doi":"10.1016/j.ando.2026.102490","DOIUrl":"10.1016/j.ando.2026.102490","url":null,"abstract":"<div><h3>Objective</h3><div>The aim of the study was to investigate bone comorbidities and their management in patients included in the European Register on Cushing's syndrome (ERCUSYN).</div></div><div><h3>Design</h3><div>A retrospective multicentric cohort study and on-line survey.</div></div><div><h3>Methods</h3><div>We analyzed the prevalence of osteoporosis (OP) and fractures among 1682 patients with Cushing's syndrome (CS), at initial evaluation and during follow-up. All the ERCUSYN partners received a survey addressing bone disease management in CS.</div></div><div><h3>Results</h3><div>Seven hundred and sixty-six patients (45%) had DXA examination at baseline, of whom 157 (21%) presented OP at spine and 103 (13%) at hip. Risk factors for OP were older age (<em>P</em> <!-->=<!--> <!-->0.038) and lower BMI (<em>P</em> <!-->=<!--> <!-->0.022). An X-ray was performed in 492 (29%) patients and fracture was detected in 87 (18%). Risk factors for fractures at baseline were male sex (<em>P</em> <!-->&lt;<!--> <!-->0.001), muscle weakness (<em>P</em> <!-->=<!--> <!-->0.026) and bone mineral density (BMD) at hip indicating OP (<em>P</em> <!-->=<!--> <!-->0.026). During follow-up, spine BMD deterioration was more common in older patients (<em>P</em> <!-->=<!--> <!-->0.005) and in those with diabetes mellitus (<em>P</em> <!-->=<!--> <!-->0.024), while worsening of hip BMD was more frequent in patients with hypopituitarism (<em>P</em> <!-->=<!--> <!-->0.021), diabetes mellitus (<em>P</em> <!-->=<!--> <!-->0.034), on levothyroxine substitution (<em>P</em> <!-->=<!--> <!-->0.008) and those less often treated with anti-osteoporotic agents (<em>P</em> <!-->=<!--> <!-->0.022). The survey evidenced significant heterogeneity in terms of timing of bone evaluation and treatment initiation.</div></div><div><h3>Conclusions</h3><div>A significant number of patients with CS experienced OP and fractures. Clinical factors may help to select patients at the highest risk. There are currently no standards of care for the management of bone complications in CS across Europe.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 1","pages":"Article 102490"},"PeriodicalIF":2.9,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146127688","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}
引用次数: 0
Late-onset isolated corticotrophin deficiency induced by pembrolizumab in a patient with non-small-cell lung carcinoma 1例非小细胞肺癌患者由派姆单抗诱导的晚发性孤立性促皮质激素缺乏
IF 2.9 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2026-02-01 Epub Date: 2025-11-13 DOI: 10.1016/j.ando.2025.102470
Ibtissem Oueslati , Nezha Hafsi , Xavier Piguel , Hela Skhiri , Helena Mosbah
{"title":"Late-onset isolated corticotrophin deficiency induced by pembrolizumab in a patient with non-small-cell lung carcinoma","authors":"Ibtissem Oueslati ,&nbsp;Nezha Hafsi ,&nbsp;Xavier Piguel ,&nbsp;Hela Skhiri ,&nbsp;Helena Mosbah","doi":"10.1016/j.ando.2025.102470","DOIUrl":"10.1016/j.ando.2025.102470","url":null,"abstract":"","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"87 1","pages":"Article 102470"},"PeriodicalIF":2.9,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145733342","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}
引用次数: 0
CO-041 La duplication constitutionnelle de PRKACA est à l’origine de dysplasie micronodulaire pigmentée des surrénales (PPNAD) et génère de nouvelles interactions chromatiniennes CO-041 PRKACA的宪法复制导致色素沉着的肾上腺微瘤发育不良(PPNAD),并产生新的染色质相互作用。
IF 2.9 3区 医学 Q3 ENDOCRINOLOGY & METABOLISM Pub Date : 2025-12-01 Epub Date: 2025-09-15 DOI: 10.1016/j.ando.2025.101889
P. Vaduva (Dr) , F. Violon (Dr) , A. Chansavang (Dr) , D. Hadjadj (Dr) , G. Raverot (Pr) , S. Espiard (Pr) , A. Attia (Dr) , L. Bouys (Dr) , L. Thomeret (Dr) , A. Weber Kuhn (Dr) , K. Perlemoine , N. Chevalier (Pr) , M.C. Vantyghem (Pr) , M. Polak (Pr) , M. Fragoso (Pr) , A. Berthon (Dr) , B. Ragazzon (Dr) , A. Jouinot (Dr) , E. Pasmant (Pr) , J. Bertherat (Pr)

Objectif

Des duplications constitutionnelles de PRKACA (PRKACAdup) ont été décrites dans de rares cas de maladies nodulaires bilatérales des corticosurrénales (BNAD). Notre objectif était de préciser le phénotype et les conséquences de ces duplications après dépistage systématique dans les BNAD.

Méthodes

Entre 2020 et 2024, 781 cas index de BNAD, 693 hyperplasies macronodulaires bilatérales et 88 dysplasies micronodulaires pigmentées (PPNAD), ont été génotypés par séquençage nouvelle génération avec un panel ciblant ARMC5, KDM1A, MEN1, PRKAR1A et PRKACA, ou par séquençage du génome entier (WGS). À partir de librairies Hi-C de 3 tumeurs, des analyses de conformation chromatinienne ont été réalisées.

Résultats

Des PRKACAdup ont été identifiées chez 8 cas index. Le WGS réalisé sur 4 cas index n’a permis d’identifier aucun autre gène dans la région dupliquée, ni aucunes autres altérations géniques connus pour être impliqués en pathologie surrénalienne. Les PRKACAdup ont généré des néo-domaines d’association topologique (TAD), dans les cartes Hi-C des tumeurs, en comparaison à des cellules souches embryonnaires humaines. Tous les cas index ont subi une surrénalectomie bilatérale pour hypercorticisme périphérique, avec une histologie confirmant la PPNAD. L’immunohistochimie (anticorps PRKACA et PRKAR1A) a permis de différencier les altérations génétiques responsables de PPNAD.

Conclusion

Les PRKACAdup sont à l’origine de PPNAD (9 % des cas index avec PPNAD ici), mais pas d’autres formes de BNAD. Elles génèrent des néo-TAD dans les cartes Hi-C des tumeurs dérivées des patients, indiquant des régions spécifiques de dysrégulation de l’expression génique induite par ces duplications dans les PPNAD.
PRKACA (PRKACAdup)的体质复制已在罕见的双侧皮质肾结节病(BNAD)病例中被描述。我们的目标是在NADB中进行系统筛查后,阐明这些重复的表型和后果。方法在2020年至2024年期间,通过ARMC5、KDM1A、MEN1、PRKAR1A和PRKACA的新一代测序或全基因组测序(WGS),对781例BNAD指数病例、693例双侧巨噬细胞增生和88例色素微噬细胞发育不良(PPNAD)进行了基因分型。对3个肿瘤的Hi-C库进行了染色质构象分析。在8个指数病例中发现了PRKACAdup。对4个病例进行的WGS没有在复制区域发现任何其他基因,也没有已知与肾上腺病理有关的其他基因改变。与人类胚胎干细胞相比,PRKACAdup在肿瘤的Hi-C图谱中生成了拓扑关联新域(TAD)。所有指数病例均因外周皮质亢进而进行双侧肾切除,组织学确认为PNAD。免疫组织化学(PRKACA和PRKAR1A抗体)已被用来区分导致PPNAD的遗传变异。PRKACAdup导致PPNAD(9%的PPNAD指数病例),但没有其他形式的BNAD。它们在患者衍生肿瘤的Hi-C图谱中产生neo -TAD,表明这些重复在PNAD中引起基因表达失调的特定区域。
{"title":"CO-041 La duplication constitutionnelle de PRKACA est à l’origine de dysplasie micronodulaire pigmentée des surrénales (PPNAD) et génère de nouvelles interactions chromatiniennes","authors":"P. Vaduva (Dr) ,&nbsp;F. Violon (Dr) ,&nbsp;A. Chansavang (Dr) ,&nbsp;D. Hadjadj (Dr) ,&nbsp;G. Raverot (Pr) ,&nbsp;S. Espiard (Pr) ,&nbsp;A. Attia (Dr) ,&nbsp;L. Bouys (Dr) ,&nbsp;L. Thomeret (Dr) ,&nbsp;A. Weber Kuhn (Dr) ,&nbsp;K. Perlemoine ,&nbsp;N. Chevalier (Pr) ,&nbsp;M.C. Vantyghem (Pr) ,&nbsp;M. Polak (Pr) ,&nbsp;M. Fragoso (Pr) ,&nbsp;A. Berthon (Dr) ,&nbsp;B. Ragazzon (Dr) ,&nbsp;A. Jouinot (Dr) ,&nbsp;E. Pasmant (Pr) ,&nbsp;J. Bertherat (Pr)","doi":"10.1016/j.ando.2025.101889","DOIUrl":"10.1016/j.ando.2025.101889","url":null,"abstract":"<div><h3>Objectif</h3><div>Des duplications constitutionnelles de <em>PRKACA</em> (<em>PRKACA</em>dup) ont été décrites dans de rares cas de maladies nodulaires bilatérales des corticosurrénales (BNAD). Notre objectif était de préciser le phénotype et les conséquences de ces duplications après dépistage systématique dans les BNAD.</div></div><div><h3>Méthodes</h3><div>Entre 2020 et 2024, 781 cas index de BNAD, 693 hyperplasies macronodulaires bilatérales et 88 dysplasies micronodulaires pigmentées (PPNAD), ont été génotypés par séquençage nouvelle génération avec un panel ciblant <em>ARMC5, KDM1A, MEN1, PRKAR1A</em> et <em>PRKACA</em>, ou par séquençage du génome entier (WGS). À partir de librairies Hi-C de 3 tumeurs, des analyses de conformation chromatinienne ont été réalisées.</div></div><div><h3>Résultats</h3><div>Des <em>PRKACA</em>dup ont été identifiées chez 8 cas index. Le WGS réalisé sur 4 cas index n’a permis d’identifier aucun autre gène dans la région dupliquée, ni aucunes autres altérations géniques connus pour être impliqués en pathologie surrénalienne. Les <em>PRKACA</em>dup ont généré des néo-domaines d’association topologique (TAD), dans les cartes Hi-C des tumeurs, en comparaison à des cellules souches embryonnaires humaines. Tous les cas index ont subi une surrénalectomie bilatérale pour hypercorticisme périphérique, avec une histologie confirmant la PPNAD. L’immunohistochimie (anticorps PRKACA et PRKAR1A) a permis de différencier les altérations génétiques responsables de PPNAD.</div></div><div><h3>Conclusion</h3><div>Les <em>PRKACA</em>dup sont à l’origine de PPNAD (9 % des cas index avec PPNAD ici), mais pas d’autres formes de BNAD. Elles génèrent des néo-TAD dans les cartes Hi-C des tumeurs dérivées des patients, indiquant des régions spécifiques de dysrégulation de l’expression génique induite par ces duplications dans les PPNAD.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 6","pages":"Article 101889"},"PeriodicalIF":2.9,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145061339","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}
引用次数: 0
期刊
Annales d'endocrinologie
全部 Acc. Chem. Res. ACS Applied Bio Materials ACS Appl. Electron. Mater. ACS Appl. Energy Mater. ACS Appl. Mater. Interfaces ACS Appl. Nano Mater. ACS Appl. Polym. Mater. ACS BIOMATER-SCI ENG ACS Catal. ACS Cent. Sci. ACS Chem. Biol. ACS Chemical Health & Safety ACS Chem. Neurosci. ACS Comb. Sci. ACS Earth Space Chem. ACS Energy Lett. ACS Infect. Dis. ACS Macro Lett. ACS Mater. Lett. ACS Med. Chem. Lett. ACS Nano ACS Omega ACS Photonics ACS Sens. ACS Sustainable Chem. Eng. ACS Synth. Biol. Anal. Chem. BIOCHEMISTRY-US Bioconjugate Chem. BIOMACROMOLECULES Chem. Res. Toxicol. Chem. Rev. Chem. Mater. CRYST GROWTH DES ENERG FUEL Environ. Sci. Technol. Environ. Sci. Technol. Lett. Eur. J. Inorg. Chem. IND ENG CHEM RES Inorg. Chem. J. Agric. Food. Chem. J. Chem. Eng. Data J. Chem. Educ. J. Chem. Inf. Model. J. Chem. Theory Comput. J. Med. Chem. J. Nat. Prod. J PROTEOME RES J. Am. Chem. Soc. LANGMUIR MACROMOLECULES Mol. Pharmaceutics Nano Lett. Org. Lett. ORG PROCESS RES DEV ORGANOMETALLICS J. Org. Chem. J. Phys. Chem. J. Phys. Chem. A J. Phys. Chem. B J. Phys. Chem. C J. Phys. Chem. Lett. Analyst Anal. Methods Biomater. Sci. Catal. Sci. Technol. Chem. Commun. Chem. Soc. Rev. CHEM EDUC RES PRACT CRYSTENGCOMM Dalton Trans. Energy Environ. Sci. ENVIRON SCI-NANO ENVIRON SCI-PROC IMP ENVIRON SCI-WAT RES Faraday Discuss. Food Funct. Green Chem. Inorg. Chem. Front. Integr. Biol. J. Anal. At. Spectrom. J. Mater. Chem. A J. Mater. Chem. B J. Mater. Chem. C Lab Chip Mater. Chem. Front. Mater. Horiz. MEDCHEMCOMM Metallomics Mol. Biosyst. Mol. Syst. Des. Eng. Nanoscale Nanoscale Horiz. Nat. Prod. Rep. New J. Chem. Org. Biomol. Chem. Org. Chem. Front. PHOTOCH PHOTOBIO SCI PCCP Polym. Chem.
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1