{"title":"Key data from the 2024 European Thyroid Association annual meeting: “Thyroid and pregnancy”","authors":"Philippe Caron","doi":"10.1016/j.ando.2024.101681","DOIUrl":"10.1016/j.ando.2024.101681","url":null,"abstract":"","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 2","pages":"Article 101681"},"PeriodicalIF":2.9,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143018232","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}
Lauriane Le Collen , Théo Charnay , Sang Ly , Brigitte Delemer , Arnaud Lagarde , Giuliana Ascone , Adrian F. Daly , Anne Barlier , Pauline Romanet , AURAGEN consortium
{"title":"Tatton-Brown-Rahman syndrome: A new multiple endocrine neoplasia syndrome with intellectual disability?","authors":"Lauriane Le Collen , Théo Charnay , Sang Ly , Brigitte Delemer , Arnaud Lagarde , Giuliana Ascone , Adrian F. Daly , Anne Barlier , Pauline Romanet , AURAGEN consortium","doi":"10.1016/j.ando.2024.101680","DOIUrl":"10.1016/j.ando.2024.101680","url":null,"abstract":"<div><div>We describe for the first time the case of a woman presenting with Tatton-Brown-Rahman syndrome (TBRS) and multiple endocrine neoplasia (MEN). She developed primary hyperparathyroidism at age 13, a pituitary cyst at age 14, adrenal tumor at age 21, and metastatic insulinoma at age 34. In addition, she showed intellectual disability, obesity, multiple lipomas, facial dysmorphia, hemihypertrophy and kyphoscoliosis. At age 35, genome analysis revealed a pathogenic de-novo heterozygous germline <em>DNMT3A</em> variant, while classic MEN syndromes were ruled out by targeted somatic and germline genetic testing. This case highlights not only the importance of genomic analysis in patients with multiple and atypical conditions, but also the need for a multidisciplinary approach for TBRS patients, including in adulthood, involving endocrinologists to enhance understanding and optimize monitoring of this syndrome.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 2","pages":"Article 101680"},"PeriodicalIF":2.9,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142904298","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}
Cecilia Piazzola , Thomas Graillon , Nadine Girard , Henry Dufour , Thierry Brue , Frederic Castinetti
{"title":"Desmopressin is a safe and effective secretagogue to replace corticotropin-releasing hormone in petrosal sinus sampling","authors":"Cecilia Piazzola , Thomas Graillon , Nadine Girard , Henry Dufour , Thierry Brue , Frederic Castinetti","doi":"10.1016/j.ando.2024.101678","DOIUrl":"10.1016/j.ando.2024.101678","url":null,"abstract":"<div><h3>Purpose</h3><div>Bilateral inferior petrosal sinus sampling (BIPSS) with corticotropin-releasing hormone (CRH) was the gold standard for distinguishing Cushing disease (CD) from ectopic ACTH secretion (EAS). CRH, however, is no longer available.</div></div><div><h3>Objective</h3><div>To assess the reliability of BIPSS with desmopressin to differentiate CD from EAS.</div></div><div><h3>Methods</h3><div>A retrospective study included patients who underwent BIPSS with desmopressin for ACTH-dependent hypercortisolism, with the whole diagnostic procedure in a single center.</div></div><div><h3>Results</h3><div>Fifty-eight patients with confirmed etiological diagnosis were included: 51 CD, 7 EAS. Forty-three CD patients (84.3%) had post-stimulation ratio ≥<!--> <!-->2 before stimulation and 6 of the other 8 (75%) had a ratio ≥<!--> <!-->3. All EAS patients were correctly diagnosed before and after stimulation. Sensitivity was 84.3% before stimulation and 92.2% combining pre- and post-stimulation results; specificity reached 100%. A ROC curve established optimal thresholds at 1.4 before stimulation and 1.7 after.</div></div><div><h3>Conclusion</h3><div>Desmopressin is a good substitute for CRH, correcting diagnosis compared to baseline BIPSS in 12% of cases.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 2","pages":"Article 101678"},"PeriodicalIF":2.9,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142873661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Evaluation of the analytic performance and macroprolactin sensitivity of a new prolactin immunoassay","authors":"Guillaume David , Pauline Perrin , Camille Sergeant , Gérald Raverot , Véronique Raverot","doi":"10.1016/j.ando.2024.101677","DOIUrl":"10.1016/j.ando.2024.101677","url":null,"abstract":"<div><h3>Purpose</h3><div>Prolactin measurement is essential in endocrine diagnostics. Challenges such as the hook effect and reactivity to macroprolactin, which varies according to the reagent, complicate accurate measurement. The present study evaluated a newly marketed reagent to detect prolactin, IDS Prolactin, comparing it to an established reagent, Roche Elecsys Prolactin, assessing its behavior toward macroprolactin and polyethylene glycol (PEG) treatment, and establishing reference intervals.</div></div><div><h3>Methods</h3><div>The IDS Prolactin and Roche Elecsys Prolactin assays were compared using 44 samples containing macroprolactin confirmed on gel filtration chromatography (macroprolactin: BBPRL) and 104 samples for which the diagnosis of macroprolactin was excluded (monomeric prolactin: MNPRL). Analytic performance of the IDS Prolactin assay was also assessed.</div></div><div><h3>Results</h3><div>The new reagent showed satisfactory analytic performance, meeting EFLM standards for repeatability and intermediate imprecision. Comparison between the two methods found robust correlation for monomeric samples (y<!--> <!-->=<!--> <!-->1.060x–18.28; r<sup>2</sup> <!-->=<!--> <!-->0.993). Compared to the Roche assay, which is particularly low in its reaction to macroprolactin, the IDS assay displayed a higher level of detection. PEG precipitation effectively separated monomeric and macroprolactin samples when a cut-off of 65% recovery was used or at the threshold of 444 mIU/L (20.9<!--> <!-->μg/L) for post-PEG monomeric prolactin upper limit of normal. Reference intervals were established for women, with ROC curve analysis demonstrating high sensitivity and specificity.</div></div><div><h3>Conclusion</h3><div>The IDS Prolactin assay showed excellent analytic performance and satisfactory characteristics on macroprolactinemic samples.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 2","pages":"Article 101677"},"PeriodicalIF":2.9,"publicationDate":"2024-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142803802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Omolara Khadijat Tijani, Maria Moreno-Lopez, Isaline Louvet, Ana Acosta-Montalvo, Anaïs Coddeville, Valery Gmyr, Julie Kerr-Conte, François Pattou, Marie-Christine Vantyghem, Chiara Saponaro, Caroline Bonner, Stéphanie Espiard
{"title":"Impact of therapeutic doses of prednisolone and other glucocorticoids on insulin secretion from human islets","authors":"Omolara Khadijat Tijani, Maria Moreno-Lopez, Isaline Louvet, Ana Acosta-Montalvo, Anaïs Coddeville, Valery Gmyr, Julie Kerr-Conte, François Pattou, Marie-Christine Vantyghem, Chiara Saponaro, Caroline Bonner, Stéphanie Espiard","doi":"10.1016/j.ando.2024.101676","DOIUrl":"10.1016/j.ando.2024.101676","url":null,"abstract":"<div><h3>Introduction</h3><div>Glucocorticoid-induced diabetes (GCID) is a prevalent health issue, generally attributed to insulin resistance. High doses of dexamethasone (DEX) are known to inhibit glucose-stimulated insulin secretion (GSIS), but the effects of lower doses, commonly used in chronic therapy, and equipotent doses of other glucocorticoids (GCs) such as hydrocortisone (HC) and prednisone (PRED) remain underexplored. This study aimed to investigate these effects in vitro, and explore variations between patients.</div></div><div><h3>Materials and methods</h3><div>Dynamic perifusion assays were conducted on human islets to evaluate the impact of different GCs on GSIS. The islets were treated for 24<!--> <!-->h with 250<!--> <!-->nM PRED and other GCs at equipotent anti-inflammatory doses (HC: 1<!--> <!-->μM; DEX: 38<!--> <!-->nM).</div></div><div><h3>Results</h3><div>In 11 human islet donor preparations, 250<!--> <!-->nM PRED, corresponding to a clinical oral dose of 5<!--> <!-->mg/day, significantly inhibited the first and second phase of GSIS: area under the curve (AUC) decreased by 32.3% (<em>P</em> <!--><<!--> <!-->0.001), first phase by 41.5% (<em>P</em> <!--><<!--> <!-->0.001), and second phase by 38.4% (<em>P</em> <!--><<!--> <!-->0.001). Despite interindividual differences in GSIS response to PRED, no significant differences were observed according to body mass index, gender or age. Comparing the effects of GCs at equipotent anti-inflammatory doses, DEX had a more pronounced inhibitory effect on GSIS than HC or PRED.</div></div><div><h3>Conclusions</h3><div>In vitro, low-dose PRED treatment significantly impacted GSIS. DEX had a more unfavorable impact on GSIS than HC or PRED, indicating that metabolic effects do not align with anti-inflammatory potency.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 2","pages":"Article 101676"},"PeriodicalIF":2.9,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142792907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yann Bertolani, Claudia García-Arumí, Tetiana Goncharova, Albert Arnaiz-Camacho, Jose García-Arumí
{"title":"Choroidal metastasis secondary to follicular thyroid carcinoma successfully managed with larotrectinib: A case report and review of the literature","authors":"Yann Bertolani, Claudia García-Arumí, Tetiana Goncharova, Albert Arnaiz-Camacho, Jose García-Arumí","doi":"10.1016/j.ando.2024.11.001","DOIUrl":"10.1016/j.ando.2024.11.001","url":null,"abstract":"","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 2","pages":"Article 101675"},"PeriodicalIF":2.9,"publicationDate":"2024-11-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142756040","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}
Aysa Hacioglu , Emre Urhan , Zuleyha Karaca , Ahmet Selcuklu , Halil Ulutabanca , Okkes Celil Gokcek , Bilal Yekeler , Kursad Unluhizarci , Kaj Blennow , Henrik Zetterberg , Fahrettin Kelestimur
{"title":"Predictive value of neuronal markers for pituitary dysfunction following traumatic brain injury: A preliminary study","authors":"Aysa Hacioglu , Emre Urhan , Zuleyha Karaca , Ahmet Selcuklu , Halil Ulutabanca , Okkes Celil Gokcek , Bilal Yekeler , Kursad Unluhizarci , Kaj Blennow , Henrik Zetterberg , Fahrettin Kelestimur","doi":"10.1016/j.ando.2024.10.003","DOIUrl":"10.1016/j.ando.2024.10.003","url":null,"abstract":"<div><h3>Purpose</h3><div>Traumatic brain injury (TBI), a well-known risk factor for pituitary dysfunction, is associated with increased serum neurofilament light chain (NFL), glial fibrillary acidic protein (GFAP), and total tau (t-tau) levels. We aimed to assess the predictive value of these markers and pituitary dysfunction following TBI in a prospective manner.</div></div><div><h3>Methods</h3><div>Adult patients following TBI were included. Serum levels of NFL, GFAP, t-tau and pituitary and target hormones were analyzed prospectively during first week and one year after TBI.</div></div><div><h3>Results</h3><div>Twenty-two patients (17 males, 5 females; mean age 40<!--> <!-->±<!--> <!-->15 years) were included in the study. Basal NFL levels correlated positively with length of hospital stay and basal cortisol (r<!--> <!-->=<!--> <!-->0.643, <em>P</em> <!-->=<!--> <!-->0.001 and r<!--> <!-->=<!--> <!-->0.558, <em>P</em> <!-->=<!--> <!-->0.007, respectively) and negatively with Glasgow Coma Scale (GCS) score and basal IGF-1 levels (r<!--> <!-->=<!--> <!-->−0.429, <em>P</em> <!-->=<!--> <!-->0.046 and r<!--> <!-->=<!--> <!-->−0.481, <em>P</em> <!-->=<!--> <!-->0.023, respectively), while there was no significant correlation between GFAP, t-tau and hormone levels. NFL, GFAP, and t-tau levels significantly decreased, and none of the patients developed hormone deficiencies one year after TBI. No correlations were detected between basal markers and first year pituitary hormone levels.</div></div><div><h3>Conclusion</h3><div>Serum NFL levels were correlated with hormonal changes during acute phase of TBI reflecting the physiological response to trauma. Larger studies are needed to analyze the associations during chronic phase.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"86 4","pages":"Article 101674"},"PeriodicalIF":2.9,"publicationDate":"2024-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142514486","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":"Commentary on: Diagnostic performance of various imaging modalities in localizing ectopic ACTH syndrome: A systematic review","authors":"Oskar Ragnarsson","doi":"10.1016/j.ando.2024.09.005","DOIUrl":"10.1016/j.ando.2024.09.005","url":null,"abstract":"","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"85 6","pages":"Page 632"},"PeriodicalIF":2.9,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142565094","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}
Dr A. Sagnella , Dr H. Lasolle , Dr Y. Godbert , Dr C. Do Cao , Dr D. Drui , Dr S. Hescot , Dr M. Laramas , Dr C. Sage , Pr J. Wassermann , Dr N. Roudaut , Dr F. Illouz , Pr F. Borson-Chazot , Dr M.B. Abdelouahab , Dr J. Hadoux , Pr I. Borget , Dr C. Buffet , Dr L. Lamartina
{"title":"Pronosthyc: Prognostic factors in radioiodine refractory differentiated thyroid cancer with distant metastases, a multicentric study from the French ENDOCAN-TUTHYREF Network","authors":"Dr A. Sagnella , Dr H. Lasolle , Dr Y. Godbert , Dr C. Do Cao , Dr D. Drui , Dr S. Hescot , Dr M. Laramas , Dr C. Sage , Pr J. Wassermann , Dr N. Roudaut , Dr F. Illouz , Pr F. Borson-Chazot , Dr M.B. Abdelouahab , Dr J. Hadoux , Pr I. Borget , Dr C. Buffet , Dr L. Lamartina","doi":"10.1016/j.ando.2024.08.111","DOIUrl":"10.1016/j.ando.2024.08.111","url":null,"abstract":"<div><h3>Background</h3><div>Radioiodine-refractory differentiated thyroid cancer (RAI-R DTC) patients with distant metastases have a heterogeneous prognosis, spanning from indolent to rapidly progressing disease. Our aim is to assess overall survival (OS) in RAI-R DTC patients and to identify the associated prognostic factors.</div></div><div><h3>Methods</h3><div>A retrospective multicentric (ENDOCAN-TUTHYREF Network) analysis of consecutive cases of distant metastatic RAI-R DTC, diagnosed between 1990 and 2022, was performed. Survival was estimated using the Kaplan-Meier method and prognostic factors were assessed by Cox's model.</div></div><div><h3>Results</h3><div>Our cohort included 899 patients (52.1% females, median age 65 years [20–90] at RAI-R DTC diagnosis). Median follow-up was 4.8 years [0.1–40.1], primary tumour resection in 95.9%. Histotypes were papillary (55.6%), follicular (12.2%), oncocytic (10.6%) and poorly differentiated (21.6%). Metastases diagnosis was synchronous to primary in 39.4%, macroscopic (>1<!--> <!-->cm) in 48.2% and multiple in 83.4% of the cases; 521 (58%) patients were treated with systemic therapies. In 332 (37%) patients, driver mutation status was assessed: 63% BRAFV600E, 29.5% RAS (21% NRAS, 5% HRAS, 3.5% KRAS) mutations and 6% gene fusions (3% RET, 2% NTRK, 1% ALK). After RAI-R DTC diagnosis, median OS was 9.5 years, (5-, 10-year OS rates; 74.8%, 48.1% respectively). Prognostic factors independently associated with worse OS were age ≥55 years (HR<!--> <!-->=<!--> <!-->2.54; 95%CI<!--> <!-->=<!--> <!-->1.84–3.57), multiple metastatic sites (HR<!--> <!-->=<!--> <!-->2.80; 95%CI<!--> <!-->=<!--> <!-->1.80–4.64), macroscopic metastases (HR<!--> <!-->=<!--> <!-->1.98; 95%CI<!--> <!-->=<!--> <!-->1.54–2.55), positive <sup>18</sup>FDG-PET uptake (HR<!--> <!-->=<!--> <!-->2.08; 95%CI<!--> <!-->=<!--> <!-->1.30–3.52), while better OS was associated to primary tumor resection (HR<!--> <!-->=<!--> <!-->0.50; 95%CI<!--> <!-->=<!--> <!-->0.31–0.86), differentiated tumor type (HR<!--> <!-->=<!--> <!-->0.53; 95%CI<!--> <!-->=<!--> <!-->0.41–0.68), metachronous metastatic presentation (HR<!--> <!-->=<!--> <!-->0.64; 95%CI<!--> <!-->=<!--> <!-->0.50–0.82).</div></div><div><h3>Conclusions</h3><div>RAI-R DTC prognosis can be stratified by some simple independent prognostic factors of OS.</div></div>","PeriodicalId":7917,"journal":{"name":"Annales d'endocrinologie","volume":"85 5","pages":"Pages 387-388"},"PeriodicalIF":2.9,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142359231","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}