Pub Date : 2026-02-01Epub Date: 2025-11-19DOI: 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}
Pub Date : 2026-02-01Epub Date: 2025-12-30DOI: 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}
Pub Date : 2026-02-01Epub Date: 2026-01-02DOI: 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}
Pub Date : 2026-02-01Epub Date: 2026-02-03DOI: 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.
{"title":"Refractory hypothyroidism: Diagnostic evaluation and management strategies","authors":"Maria Mavromati , Patrick Jarlborg , Marco Demarchi , 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 (> 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}
Pub Date : 2026-02-01Epub Date: 2026-01-02DOI: 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 , Amélie Parisel , Luc Coppens , Laurie Henry , Olivier Gaspard , Maxime Sempels , 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}
Pub Date : 2026-02-01Epub Date: 2025-10-15DOI: 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, Shashank Dokania, 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}
Pub Date : 2026-02-01Epub Date: 2026-02-03DOI: 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.
{"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 , 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","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> <!--><<!--> <!-->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}
Pub Date : 2025-12-01Epub Date: 2025-09-15DOI: 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.
{"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) , 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)","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}