Jonanlis Ramirez Alcantara, Natalie R Grant, Takara Stanley, Alyssa Halper, Florian S Eichler, Nicholas A Tritos
{"title":"HYPOGONADISM IN ADULT MALES WITH ADRENOLEUKODYSTROPHY.","authors":"Jonanlis Ramirez Alcantara, Natalie R Grant, Takara Stanley, Alyssa Halper, Florian S Eichler, Nicholas A Tritos","doi":"10.1016/j.ando.2025.102464","DOIUrl":"https://doi.org/10.1016/j.ando.2025.102464","url":null,"abstract":"<p><strong>Introduction: </strong>Hypogonadism has been reported in patients with X-linked adrenoleukodystrophy (ALD), but little is known about prevalence and characteristics. We aimed to further characterize hypogonadism in males with ALD.</p><p><strong>Methods: </strong>We conducted a retrospective chart review and a prospective study of male children and adults with ALD followed in a multidisciplinary clinic at a tertiary academic center. Serum gonadotropin and testosterone levels defined presence of hypogonadism in adults. Data on symptoms were collected in a survey.</p><p><strong>Results: </strong>We included 94 males: 56 adults, 32 adolescents and 6 infants. Seven of the 56 adults studied retrospectively (13%) had central hypogonadism. Five of the 49 adults with normal testosterone studied retrospectively (10%), and 7 of the 11 adults studied prospectively (64%) had elevated serum luteinizing hormone and normal testosterone levels, indicative of subclinical compensated primary testicular dysfunction. Adolescents and infants showed no evidence of testicular dysfunction, with normal anti-Müllerian hormone and inhibin levels. Erectile dysfunction was present in 25 of adults with ALD and normal serum testosterone levels (51%), likely reflecting neurologic dysfunction.</p><p><strong>Conclusions: </strong>Adult males with ALD are at risk of developing central hypogonadism and compensated primary hypogonadism. Adolescents and infants had normal testicular function, suggesting that testicular dysfunction ensues later in life as the disease progresses. Larger prospective studies of ALD cohorts are needed to fully characterize the prevalence and natural history of pituitary-gonadal dysfunction in this population.</p>","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":"102464"},"PeriodicalIF":2.9,"publicationDate":"2025-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145314148","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":"Tribute to Roger Guillemin, the father of neuroendocrinology.","authors":"Geneviève Sassolas","doi":"10.1016/j.ando.2025.102459","DOIUrl":"https://doi.org/10.1016/j.ando.2025.102459","url":null,"abstract":"","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":"86 5","pages":"102459"},"PeriodicalIF":2.9,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145294517","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}
Luisana Molina-Pimienta, Andrés A Cuéllar Cuéllar, Mireya Tapiero-García, Alfredo Romero-Rojas, Jesús O Sanchez-Castillo
{"title":"Prognostic Factors and Survival in Gastroenteropancreatic Neuroendocrine Neoplasm: Real-World Evidence from a South American Single-Center Cohort.","authors":"Luisana Molina-Pimienta, Andrés A Cuéllar Cuéllar, Mireya Tapiero-García, Alfredo Romero-Rojas, Jesús O Sanchez-Castillo","doi":"10.1016/j.ando.2025.102463","DOIUrl":"https://doi.org/10.1016/j.ando.2025.102463","url":null,"abstract":"<p><strong>Background: </strong>Gastroenteropancreatic neuroendocrine neoplasm (GEP-NEN) is a rare tumor, but with increasing global prevalence. However, data on epidemiology and survival in Latin America are sparse.</p><p><strong>Objective: </strong>To describe clinical characteristics and survival in GEP-NEN treated at the Instituto Nacional de Cancerología in Bogotá, Colombia.</p><p><strong>Methods: </strong>This retrospective observational study included patients diagnosed with GEP-NEN between January 1, 2008 and January 1, 2020. Clinical and pathological data were extracted from medical records. Survival analysis was conducted using Kaplan-Meier estimators and Cox proportional hazards models.</p><p><strong>Results: </strong>A total of 204 patients were included. Median age was 55 years (range: 19-83); 61.3% were women. Most tumors (95.6%) were well-differentiated gastroenteropancreatic neuroendocrine tumors (NETs), and 55.9% of patients presented with stage IV disease. The most common primary tumor sites were the pancreas (25.5%) and the small intestine (23.5%). Median interval from symptom onset to diagnosis was 12 months, with 25% of patients requiring ≥2 years for diagnosis. Median follow-up was 105 months (95% CI: 87.6-115.2). Median overall survival was not reached. Poorer survival was significantly associated with higher tumor grade (p < 0.001), age >65 years (p = 0.035), and metastatic disease at diagnosis (p < 0.001). In contrast, surgical treatment was significantly associated with better overall survival (p = 0.006).</p><p><strong>Conclusions: </strong>This study provides real-world evidence on outcomes in GEP-NEN in Latin America. Tumor grade, age, surgical treatment and metastasis at diagnosis were identified as key prognostic factors, highlighting the importance of early diagnosis and timely intervention.</p>","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":"102463"},"PeriodicalIF":2.9,"publicationDate":"2025-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145287921","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}
Romain Vankemmel, Aurore Declomesnil, Madleen Lemaitre, Anne Vambergue, Pascal Pigny
{"title":"Assessment of diagnostic cutoff for anti-glutamic acid decarboxylase autoantibodies (GADA) measured by a commercial radiobinding assay.","authors":"Romain Vankemmel, Aurore Declomesnil, Madleen Lemaitre, Anne Vambergue, Pascal Pigny","doi":"10.1016/j.ando.2025.102462","DOIUrl":"https://doi.org/10.1016/j.ando.2025.102462","url":null,"abstract":"<p><strong>Background: </strong>Using the manufacturer's suggested cutoff values for anti-glutamic acid decarboxylase antibodies (GADA) results in intermediate levels (1-2 U/mL) in which the patient's status is unclear. Our aim was to re-evaluate these thresholds by characterizing patient phenotype according to GADA level.</p><p><strong>Method: </strong>All patients under 25 years of age who underwent GADA assessment by CentAK® radiobinding assay (RBA) in a context of type-1 diabetes (T1D) between January 2020 and May 2023 were retrospectively included. Clinical phenotype, age at evaluation, number and nature of positive islet autoantibodies, and C-peptide and GADA levels were analyzed.</p><p><strong>Results: </strong>The study involved 219 subjects: 110 with recent onset of T1D and 109 asymptomatic at-risk relatives from T1D families. Most patients with T1D had positive GADA levels (> 2 U/mL) whereas most at-risk relatives had negative levels (< 1 U/mL). Seventeen subjects (7.8 %) had intermediate GADA levels. On ROC analysis, 2 U/mL and 1 U/mL were the best cutoffs, yielding diagnostic sensitivity of 80% and 90% and specificity of 91.7% and 88.1%, respectively. Inter-assay reproducibility was higher at 2 U/mL than at 1 U/mL. GADA-positive T1D patients significantly more often showed multiple islet autoantibodies than those with negative or intermediate levels.</p><p><strong>Conclusions: </strong>We propose a single > 2 U/mL threshold for the CentAK® RBA to identify GADA-positive children and young adults, as it yields higher specificity and identifies patients prone to a wider anti-islet autoimmune reaction.</p>","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":"102462"},"PeriodicalIF":2.9,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145282110","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":"Rare Causes of Pediatric Primary Adrenal Insufficiency: Data from a Large Nationwide Tunisian Cohort.","authors":"Rania Khalfallah, Fakhri Kallabi, Delphine Mallet, Manel Guirat, Sana Kmiha, Faten Hadj Kacem, Imen Chabchoub, Hajer Aloulou, Clement Janot, Imene Boujelbene, Nourhene Gharbi, Nedia Charfi, Houda Kanoun, Neila Belguith, Yves Morel, Mongia Hachicha, Thouraya Kamoun, Mohamed Abid, Leila Keskes, Mouna Mnif, Hassen Kamoun, Florence Roucher-Boulez","doi":"10.1016/j.ando.2025.102461","DOIUrl":"https://doi.org/10.1016/j.ando.2025.102461","url":null,"abstract":"<p><strong>Context: </strong>Primary adrenal insufficiency (PAI), a rare and potentially life-threatening disorder, involves genetic factors in over 80% of pediatric cases. Congenital adrenal hyperplasia (CAH) is common, while the prevalence of other genetic factors varies between countries.</p><p><strong>Objective: </strong>This study investigated the clinical and molecular genetic characteristics of a Tunisian PAI sub-cohort. Identifying causal variants is crucial for patient care, genetic counseling, follow-up and preventing complications. Determining variant prevalence will help in shaping a cost-effective molecular strategy in a country with limited resources.</p><p><strong>Patients and methods: </strong>Seventy-four patients from 65 families, with suspected congenital PAI, excluding CAH and autoimmune disease, were recruited. Clinical details were assessed by endocrinologists. Genetic analysis used a candidate gene approach (AAAS, ABCD1) and/or targeted enrichment with focused gene panels and next-generation sequencing (NGS). The pathogenicity of rare variants was assessed on in silico analysis.</p><p><strong>Results: </strong>The study achieved a diagnostic yield of 86% (56/65 families), confirming 45 patients with Allgrove syndrome (Triple A) and identifying 12 boys with adrenoleukodystrophy. The recurrent Maghreb variant (c.1331+ 1G>A) was identified within the AAAS gene. NGS revealed additional defects, including AAAS and ABCD1 variants in atypical cases (n=3). Other etiologies included MC2R (n = 1), NNT (n = 1), STAR (n = 2, 1 family), MCM4 (n= 1) variants; 14% remained undiagnosed, some with variants of uncertain significance.</p><p><strong>Conclusion: </strong>This study of Tunisia's largest PAI cohort confirmed the efficacy of the candidate gene approach. NGS significantly increased diagnostic yield (11%) and identified candidate variants. Achieving molecular diagnosis in almost 90% of children has implications for patient management, genetic counseling, monitoring and the prevention of complications.</p>","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":"102461"},"PeriodicalIF":2.9,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145276838","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}
Marie-Christine Vantyghem, Eric Mirallié, Abdallah Al-Salameh, Sébastien Aubert, Sara Barraud, Gregory Baud, Adrien Ben Hamou, Jean-Philippe Bertocchio, Françoise Borson-Chazot, Benjamin Bouillet, Claire Briet, Camille Buffet, Robert Caiazzo, Catherine Cardot-Bauters, Bertrand Cariou, Olivier Chabre, Philippe Chanson, Judith Charbit, Nathalie Chéreau, Benjamin Chevalier, Cédric Cirenei, Lucie Coppin, Bernard Corvillain, Niki Christou, Thomas Cuny, Désirée Deandreis, Sophie Deguelte, Brigitte Delemer, Rachel Desailloud, Christine Do Cao, Gianluca Donatini, Delphine Drui, Margot Dupeux, Stéphanie Espiard, Lucile Figueres, Samuel Frey, Edouard Ghanassia, Cecile Ghander, Sebastien Gaujoux, Bernard Goichot, Lionel Groussin, Iva Gueorguieva, Carole Guérin, Julien Hadoux, Magalie Haissaguerre, Héloise Henry, Elif Hindié, Pascal Houiller, Arnaud Jannin, Véronique Kerlan, Marc Klein, Eugénie Koumakis, Paulina Kuczma, Miriam Ladsous, Hélène Lasolle, Maëlle Le Bras, Anne-Lise Lecoq, Madleen Lemaitre, Jean-Christophe Lifante, Agnès Linglart, Antoine Guy Lopez, Charlotte Lussey-Lepoutre, Dominique Luton, Luigi Maione, Camille Marciniak, Muriel Mathonnet, Fabrice Menegaux, Arnaud Molin, Helena Mosbah, Claire Nominé-Criqui, Marie-Françoise Odou, David Osman, Nunza Cinzia Paladino, Clotilde Picart, Pauline Romanet, Nicolas Santucci, Nicolas Scheyer, Frédéric Sebag, Emmanuelle Sokol, David Taieb, Igor Tauveron, Christophe Tresallet, Frédéric Triponez, Bruno Vergès, Delphine Vezzosi, Laurent Brunaud, Kamenicky Peter
{"title":"French expert consensus statement on diagnosis and MANAGEMENT of PRIMARY HYPERPARATHYROIDISM.","authors":"Marie-Christine Vantyghem, Eric Mirallié, Abdallah Al-Salameh, Sébastien Aubert, Sara Barraud, Gregory Baud, Adrien Ben Hamou, Jean-Philippe Bertocchio, Françoise Borson-Chazot, Benjamin Bouillet, Claire Briet, Camille Buffet, Robert Caiazzo, Catherine Cardot-Bauters, Bertrand Cariou, Olivier Chabre, Philippe Chanson, Judith Charbit, Nathalie Chéreau, Benjamin Chevalier, Cédric Cirenei, Lucie Coppin, Bernard Corvillain, Niki Christou, Thomas Cuny, Désirée Deandreis, Sophie Deguelte, Brigitte Delemer, Rachel Desailloud, Christine Do Cao, Gianluca Donatini, Delphine Drui, Margot Dupeux, Stéphanie Espiard, Lucile Figueres, Samuel Frey, Edouard Ghanassia, Cecile Ghander, Sebastien Gaujoux, Bernard Goichot, Lionel Groussin, Iva Gueorguieva, Carole Guérin, Julien Hadoux, Magalie Haissaguerre, Héloise Henry, Elif Hindié, Pascal Houiller, Arnaud Jannin, Véronique Kerlan, Marc Klein, Eugénie Koumakis, Paulina Kuczma, Miriam Ladsous, Hélène Lasolle, Maëlle Le Bras, Anne-Lise Lecoq, Madleen Lemaitre, Jean-Christophe Lifante, Agnès Linglart, Antoine Guy Lopez, Charlotte Lussey-Lepoutre, Dominique Luton, Luigi Maione, Camille Marciniak, Muriel Mathonnet, Fabrice Menegaux, Arnaud Molin, Helena Mosbah, Claire Nominé-Criqui, Marie-Françoise Odou, David Osman, Nunza Cinzia Paladino, Clotilde Picart, Pauline Romanet, Nicolas Santucci, Nicolas Scheyer, Frédéric Sebag, Emmanuelle Sokol, David Taieb, Igor Tauveron, Christophe Tresallet, Frédéric Triponez, Bruno Vergès, Delphine Vezzosi, Laurent Brunaud, Kamenicky Peter","doi":"10.1016/j.ando.2025.102449","DOIUrl":"https://doi.org/10.1016/j.ando.2025.102449","url":null,"abstract":"<p><p>In 2024, the French Society of Endocrinology, the French speaking association of endocrine surgery, and the French society of nuclear medicine have elaborated a joint consensus statement on primary hyperparathyroidism, which was presented at the last congress of the French Society of Endocrinology, in October 2024, and subsequently published as 15 individual chapters in the Annals of Endocrinology. This consensus statement is a fruit of a joint effort by over 80 French-speaking experts in the field, including adult and pediatric endocrinologists, endocrine and pediatric surgeons, radiologists, nuclear medicine specialists, biologists and geneticists, and has been endorsed by the Belgian and Swiss endocrine societies. This document summarizes the recommendations, subdivided into 15 sections each preceded by a brief introduction. It aimed at covering systematically all areas of diagnosis and management of primary hyperparathyroidism throughout life in a comprehensive way, that we hope could be useful in particular to our younger colleagues in training.</p>","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":"102449"},"PeriodicalIF":2.9,"publicationDate":"2025-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144982172","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}
Camille Vatier, David Araújo-Vilar, Baris Akinci, Thierry Arnould, Carine Beaupère, Elise Bismuth, Rebecca J Brown, Giovanni Ceccarini, Philippe Collas, Alessandra Gambineri, Donatella Gilio, Sharon Halperin, Sonja Janmaat, Sophie Lamothe, Giovanna Lattanzi, Margherita Maffei, Ormond A MacDougald, Héléna Mosbah, Estelle Nobecourt, Elif A Oral, Justin Rochford, Ferruccio Santini, Eric C Schirmer, Julia von Schnurbein, Robert Semple, Daniel Tews, Martin Wabitsch, Marie-Christine Vantyghem, Corinne Vigouroux
{"title":"Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip) Paris, France, 20-21 May 2025.","authors":"Camille Vatier, David Araújo-Vilar, Baris Akinci, Thierry Arnould, Carine Beaupère, Elise Bismuth, Rebecca J Brown, Giovanni Ceccarini, Philippe Collas, Alessandra Gambineri, Donatella Gilio, Sharon Halperin, Sonja Janmaat, Sophie Lamothe, Giovanna Lattanzi, Margherita Maffei, Ormond A MacDougald, Héléna Mosbah, Estelle Nobecourt, Elif A Oral, Justin Rochford, Ferruccio Santini, Eric C Schirmer, Julia von Schnurbein, Robert Semple, Daniel Tews, Martin Wabitsch, Marie-Christine Vantyghem, Corinne Vigouroux","doi":"10.1016/j.ando.2025.102432","DOIUrl":"10.1016/j.ando.2025.102432","url":null,"abstract":"<p><p>Lipodystrophy syndromes are rare diseases characterized by anatomical and functional defects of adipose tissue, frequently leading to severe insulin resistance-associated metabolic complications. Subtypes of lipodystrophy syndromes differ in: their clinical presentation, with generalized or partial loss of adipose tissue; in their origin, either genetic or acquired; and in their comorbidities, forming a heterogeneous group of disorders of different severity. The European Consortium of Lipodystrophies (ECLip) was founded in 2014 as a non-profit network of health professionals, scientists and patient associations. ECLip aims to promote international collaborations to increase pathophysiological and clinical knowledge, and improve the management of lipodystrophy syndromes. ECLip now comprises 59 groups from 30 countries from Europe and beyond. The consortium developed in parallel to the increased awareness of clinical diagnosis, the growing scientific interest for these diseases at the crossroads between adipose tissue biology, whole body metabolism, genetics and immunity, and to the emergence of new pharmacological approaches. The ECLip congress, held every 18 months, aims to discuss the recent achievements and projects in the field of lipodystrophies, to consolidate ECLip activities and to promote future collaborations, highlighting clinical and fundamental aspects as well as patients' perspectives. Oral communications presented during the meeting in Paris, France, in 2025 are summarized in these minutes.</p>","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":" ","pages":"102432"},"PeriodicalIF":2.9,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144765811","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}
Z. Bellahreche, O. Sihali-Beloui, N. Semiane, A. Mallek, Y. Dahmani
{"title":"20-Hydroxyecdysone induces brown adipose tissue glycogen accumulation in obese gerbil model: Histochemical study","authors":"Z. Bellahreche, O. Sihali-Beloui, N. Semiane, A. Mallek, Y. Dahmani","doi":"10.1016/j.ando.2023.07.469","DOIUrl":"https://doi.org/10.1016/j.ando.2023.07.469","url":null,"abstract":"Obesity is a major public health problem. It is defined as an abnormal or excessive accumulation of fat harmful to health. Although the majority of obesity studies focus on changes in white adipose tissue, investigations into brown adipose tissue and its activation are becoming an increasingly popular area of interest. In this study, we attempted to examine the effects of 20-hydroxyecdysone (20E) on the glycogen amount stored in interscapular brown adipose tissue (IBAT). 15 gerbils were divided into: control group submitted to natural diet, two experimental groups submitted to high-calorie-diet supplemented or not with 20E. At the end of the experimental period, the animals were sacrificed and the IBAT was fixed in 10% formalin. Sections of 5 micrometers were made and stained with periodic acid-Schiff (PAS), to highlight the polysaccharides. Glycogen quantification in IBAT was performed using ImageJ software (NIH, Bethesda, MD, USA). PAS staining demonstrated that in the control gerbils, IBAT had strong cytoplasmic presence of glycogen. However, in the high-calorie diet group, the microscopy images had weaker PAS staining with lipid droplets infiltration compared to control group. We observed an important IBAT cytoplasm staining with PAS in group treated with 20E, indicating cells glycogen overload with reduction of lipid droplets accumulation. The quantification of glycogen had confirmed the qualitative study. Although the relationship between brown adipose tissue and glycogen storage remains underestimated and misunderstood, these preliminary results show that 20E could activate obese gerbil's brown adipocytes to store more glycogen.","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":"65 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135274371","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":"L’hémiballisme secondaire à l’hyperglycémie non cétosique : une situation rare","authors":"Z. Habbadi, I. Gam","doi":"10.1016/j.ando.2023.07.455","DOIUrl":"https://doi.org/10.1016/j.ando.2023.07.455","url":null,"abstract":"Le diabète déséquilibré peut entraîner des complications neurologiques comme des crises épileptiques et des troubles de conscience. L’hémiballisme est une manifestation plus rare. Le mécanisme expliquant la survenue de ces mouvements anormaux lors d’une hyperglycémie sans cétose reste mal élucidé. Patiente de 67 ans, hypertendue sous traitement, diabétique de type 2 depuis 4 ans sous association metformine et insuline. Admise aux urgences neurologiques pour des mouvements anormaux de l’hémicorps droit d’apparition brutale. Ces mouvements prédominent au niveau proximal, d’abord au niveau du membre supérieur droit, puis au membre inférieur homolatéral à type de flexion extension et de rotation. Ils sont brusques et irréguliers altérant sa qualité de vie. Le bilan étiologique révèle une hyperglycémie à 5 g/L sans hyperosmolarité ni cétonurie ni syndrome infectieux associé. La TDM cérébrale montre une atteinte du striatum gauche. L’évolution était marquée par la disparition de l’hémiballisme deux semaines après l’équilibre glycémique et la mise sous neuroleptique à faible dose. L’hémiballisme est un mouvement unilatéral rapide, brutal, non rythmique, non suppressible, dû à une atteinte du striatum controlatéral. Bien que rare, l’hyperglycémie non cétosique est l’une de ses causes. Dans ce cadre, plusieurs hypothèses sont avancées. En effet, l’épuisement de l’acide gamma-aminobutyrique et de l’acétate au cours de l’hyperglycémie sans cétose, avec le manque d’énergie et l’acidose métabolique, serait à l’origine de l’apparition des mouvements anormaux. Le diagnostic est radiologique et le traitement repose sur l’équilibre glycémique.","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":"28 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135274381","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}
W. Ben Hilel, I. Rojbi, S. Mekni, S. Essayeh, K. Khiari, I. Ben Nacef
{"title":"Cardiothyréose : à propos de neuf cas","authors":"W. Ben Hilel, I. Rojbi, S. Mekni, S. Essayeh, K. Khiari, I. Ben Nacef","doi":"10.1016/j.ando.2023.07.254","DOIUrl":"https://doi.org/10.1016/j.ando.2023.07.254","url":null,"abstract":"La cardiothyréose, complication majeure de l’hyperthyroïdie peut révéler ou survenir après le diagnostic la maladie. L’objectif de ce travail est de décrire le profil clinique, paraclinique et évolutif de la cardiothyréose. Il s’agissait d’une étude rétrospective descriptive réalisée à partir des patients hyperthyroïdiens hospitalisés dans notre service entre 2008 et 2022. Le diagnostic de cardiothyréose était retenu devant un trouble de rythme, une insuffisance cardiaque ou coronaire. Au total, 4 % des patients hyperthyroïdiens avaient une cardiothyréose (9/227). L’âge moyen était 55 ± 12 ans avec un sexe ratio = 2. La fréquence cardiaque moyenne était à 166 ± 32. L’amaigrissement et les palpitations étaient les signes prédominants retrouvés chez huit patients. L’hyperthyroïdie était fruste chez un patient. Le taux moyen de TSH était à 0,032 ± 0,02 U/ml et de FT4 à 3,5 ± 1,96 ng/dl [VN : 0,7–1,48]. Huit patients avaient une maladie de Basedow. L’arythmie cardiaque par fibrillation atriale (ACFA) était objectivée chez tous les patients et révélatrice de l’hyperthyroïdie dans trois cas. L’association ACFA et insuffisance cardiaque étaient présente chez deux patients. L’ETT montrait Une FEVG inférieure à 50 % et une HTAP dans deux cas. Le bisoprolol a été prescrit chez cinq patients. Parmi les six patients suivis après normalisation de la FT4, on obtenait la conversion de l’ACFA chez trois. La cardiothyréose est une complication sérieuse de l’hyperthyroïdie pouvant menacer le pronostic vital. L’ACFA est la forme clinique la plus fréquente et le retour au rythme sinusal n’est pas constant après contrôle de l’hyperthyroïdie, d’où l’intérêt du diagnostic et de prise en charge précoce de l’hyperthyroïdie.","PeriodicalId":93871,"journal":{"name":"Annales d'endocrinologie","volume":"10 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135274386","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}