Mónica Baptista Lopes , Ricardo Fonseca , João Fernandes Serôdio , Ricardo Paquete Oliveira , José Delgado Alves
{"title":"Ectopic adrenocorticotropic hormone syndrome due to olfactory neuroblastoma: A case report and literature review","authors":"Mónica Baptista Lopes , Ricardo Fonseca , João Fernandes Serôdio , Ricardo Paquete Oliveira , José Delgado Alves","doi":"10.1016/j.endinu.2025.501576","DOIUrl":"10.1016/j.endinu.2025.501576","url":null,"abstract":"<div><div>Ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS) is a cause of Cushing's syndrome usually associated with neuroendocrine tumors. Olfactory neuroblastoma (ONB) is a rare malignant neoplasm of the olfactory epithelium. This is the case of a 56-year-old woman with an ONB presenting with EAS. After initiating metyrapone, she developed a <em>Pneumocystis jirovecii</em> pneumonia. Following successful treatment of the infection, she underwent surgical tumor excision and radiotherapy, which has been in remission for the past 3 years. The authors provide a literature review of the 30 previously published cases of ONB presenting with EAS. Most were reported in middle-aged men, with a recurrence rate of 15.6% (3 patients eventually died). A total of 9.5% of all reported had an infection after starting corticosteroid-blocking therapy. ONB is a very rare cause of EAS with poor prognosis and a relapsing course. In the presence of severe hypercortisolism, chemoprophylaxis for common opportunistic agents must be considered.</div></div>","PeriodicalId":37725,"journal":{"name":"Endocrinologia, Diabetes y Nutricion","volume":"72 6","pages":"Article 501576"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144184473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Técnicas avanzadas de diagnóstico por imagen en patología hipofisaria","authors":"Beatriz Brea Álvarez","doi":"10.1016/j.endinu.2025.501610","DOIUrl":"10.1016/j.endinu.2025.501610","url":null,"abstract":"","PeriodicalId":37725,"journal":{"name":"Endocrinologia, Diabetes y Nutricion","volume":"72 7","pages":"Article 501610"},"PeriodicalIF":0.0,"publicationDate":"2025-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144722756","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
André Saad Cleto, João Matheus Schirlo, Mayara Beltrame, Victor Hugo Oliveira Gomes, Janete Machozeki, Camila Marinelli Martins
{"title":"Clinical, diagnostic and therapeutic aspects of Mauriac syndrome, a complication of type 1 diabetes mellitus: A systematic review","authors":"André Saad Cleto, João Matheus Schirlo, Mayara Beltrame, Victor Hugo Oliveira Gomes, Janete Machozeki, Camila Marinelli Martins","doi":"10.1016/j.endinu.2025.501611","DOIUrl":"10.1016/j.endinu.2025.501611","url":null,"abstract":"<div><div>This systematic review aimed to present the main clinical, diagnostic and therapeutic aspects of Mauriac syndrome, which is a rare syndrome that mainly affects children and adolescents with uncontrolled type 1 diabetes mellitus. This review was carried out in accordance with PRISMA and registered in PROSPERO (CRD42024531249). The following databases were used in our search: PubMed, Lilacs and Scielo, on 04/02/2024. Studies that presented any data on patients with Mauriac syndrome were included, however, review studies, letters to the editor and animal studies were excluded. The risk of bias was assessed using a specific method for case reports. To analyze the results, the general, clinical, diagnostic and therapeutic characteristics were analyzed using a qualitative analysis. A total of 24 studies were included, 18 case reports and 6 case series. The patients’ mean age was 16.26 years, and the mean glycated hemoglobin was 12.93%. The main signs and symptoms reported were hepatomegaly (88%), short stature (52%), cushingoid features (35%) and abdominal discomfort (26%). The means of AST, ALT, GGT, alkaline phosphatase, total cholesterol, triglycerides and lactate were above the reference value. Some studies used abdominal ultrasound (US), abdominal computed tomography (CT) or liver biopsy to make the diagnosis. CT and US showed hepatomegaly, while liver biopsies showed glycogen accumulation in hepatocytes. Treatment in most studies was based on improving blood glucose levels and diet. Therefore, Mauriac syndrome has diverse symptoms. Lab test and imaging modalities can be useful to establish diagnosis.</div></div>","PeriodicalId":37725,"journal":{"name":"Endocrinologia, Diabetes y Nutricion","volume":"72 7","pages":"Article 501611"},"PeriodicalIF":0.0,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144722727","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Francisco Javier Escalada San Martín , Irene Bretón Lesmes , Fernando Gómez Peralta , Juan Francisco Merino Torres , Francisco Pomares Gómez , Ana Chico Ballesteros , José Miguel González-Clemente , Noemí González Pérez de Villar , Cristóbal Morales Portillo , Pedro José Pinés Corrales , Wifredo Ricart Engel , M. Teresa Benedito Pérez de Inestrosa , Carlos Miranda Fernández-Santos , Ezequiel Arranz , Guadalupe Fontán Vinagre , Juan Francisco Perán , Sedisa , María Asunción Martínez Brocca
{"title":"Resumen ejecutivo del documento «Hospital de Día de Diabetes. Propuesta de valor»","authors":"Francisco Javier Escalada San Martín , Irene Bretón Lesmes , Fernando Gómez Peralta , Juan Francisco Merino Torres , Francisco Pomares Gómez , Ana Chico Ballesteros , José Miguel González-Clemente , Noemí González Pérez de Villar , Cristóbal Morales Portillo , Pedro José Pinés Corrales , Wifredo Ricart Engel , M. Teresa Benedito Pérez de Inestrosa , Carlos Miranda Fernández-Santos , Ezequiel Arranz , Guadalupe Fontán Vinagre , Juan Francisco Perán , Sedisa , María Asunción Martínez Brocca","doi":"10.1016/j.endinu.2025.501601","DOIUrl":"10.1016/j.endinu.2025.501601","url":null,"abstract":"","PeriodicalId":37725,"journal":{"name":"Endocrinologia, Diabetes y Nutricion","volume":"72 8","pages":"Article 501601"},"PeriodicalIF":0.0,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145134867","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
María Díaz-Tobarra , Sara Subirats Bort , Ignacio Peña Saiz de Aja , Gonzalo Villar García , Encarnación Lag Asturiano
{"title":"Coexistencia de microcarcinoma papilar de tiroides y carcinoma medular de tiroides metastásicos en MEN 2B. Caso clínico y revisión de la literatura","authors":"María Díaz-Tobarra , Sara Subirats Bort , Ignacio Peña Saiz de Aja , Gonzalo Villar García , Encarnación Lag Asturiano","doi":"10.1016/j.endinu.2025.501596","DOIUrl":"10.1016/j.endinu.2025.501596","url":null,"abstract":"","PeriodicalId":37725,"journal":{"name":"Endocrinologia, Diabetes y Nutricion","volume":"72 8","pages":"Article 501596"},"PeriodicalIF":0.0,"publicationDate":"2025-05-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145134907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Broadening perspectives on hypoglycemia diagnosis in non-diabetic patients","authors":"Beatriz Rodríguez Jiménez , Ignacio Jiménez Varo , Fernando-Francisco Ortega Ortega , Mariola Méndez Muros , Félix Sánchez Fernández , María Asunción Martínez-Brocca","doi":"10.1016/j.endinu.2025.501599","DOIUrl":"10.1016/j.endinu.2025.501599","url":null,"abstract":"<div><div>A 51-year-old man with a past medical history of chronic alcoholism was admitted for a planned fasting test due to suspected hypoglycemia. Despite previous evaluations by cardiology and neurology revealing no evident etiology, his syncopal episodes were suspected be associated with inconsistent hypoglycemic episodes. During his hospital admission, the patient experienced several syncopal episodes with associated seizures, which, at the time, were not related to hypoglycemia. This led to further investigation, including the exclusion of other causes, such as a possible autonomic dysfunction. Neurology consequently expanded the assessment, identifying subtle signs of mild parkinsonism and symptoms suggestive of a REM sleep disorder, which shifted the diagnostic suspicion.</div><div>This case underscores the importance of considering other clinical conditions when evaluating hypoglycemia, especially when classic symptoms are absent or inconsistently presented, and an endocrinological origin has been ruled out.</div></div>","PeriodicalId":37725,"journal":{"name":"Endocrinologia, Diabetes y Nutricion","volume":"72 7","pages":"Article 501599"},"PeriodicalIF":0.0,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144722760","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Trans-signaling through the agonistic sIL-6R and an imbalanced inflammatory response are associated with increased susceptibility to Graves’ disease","authors":"Zulvikar Syambani Ulhaq , Zulkarnain Zulkarnain , Lola Ayu Istifiani , Syafrizal Aji Pamungkas , Susiati , Djoko Wahono Soeatmadji , Aulanni’am Aulanni’am","doi":"10.1016/j.endinu.2025.501598","DOIUrl":"10.1016/j.endinu.2025.501598","url":null,"abstract":"<div><h3>Background</h3><div>Excessive inflammatory cytokines are known to impact immune response and autoimmunity. In this study, we quantified the level of interleukin (IL)-6, soluble IL-6 receptor (sIL-6R), glycoprotein 130 (sgp130) and IL-10 to determine their involvement in the pathogenesis of Graves’ disease (GD), in addition to the assessment serum cytokines IL-6, sIL-6R, sgp130, and IL-10 performance as biomarkers for the diagnosis of GD.</div></div><div><h3>Methods</h3><div>A total of 20 patients with GD and 21 healthy individuals from the Indonesian population were enrolled. The serum concentrations of the selected cytokines were quantified using the ELISA method. Thyroid-stimulating hormone (TSH), free thyroxine (FT4), free triiodothyronine (FT3), and TSH receptor antibody (TSHR-Ab) were also evaluated. Comparative analysis was performed in addition to the assessment of the diagnostic performance of cytokines using receiver-operating-curve (ROC) analysis. Pearson's correlation coefficient was used to assess the relationship between 2 quantitative variables.</div></div><div><h3>Results</h3><div>Patients with GD had a higher IL-6, sIL-6R, and IL-6/IL-10 ratio but a lower sgp130/sIL-6R/IL-6 ratio vs controls. The ROC curve analysis showed that the sgp130/sIL-6R/IL-6 ratio exhibited better performance than IL-6, sIL-6R, and IL-6/IL-10 ratio in diagnosing GD. In addition, serum levels of IL-6, sIL-6, and IL-10 were associated with thyroid parameters, including TSHR-antibody (Ab) levels.</div></div><div><h3>Conclusion</h3><div>IL-6 trans-signaling and imbalance of inflammatory response could be prominent factors in the pathogenesis of GD.</div></div>","PeriodicalId":37725,"journal":{"name":"Endocrinologia, Diabetes y Nutricion","volume":"72 7","pages":"Article 501598"},"PeriodicalIF":0.0,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144722758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Carmen Martínez del Río , Isabel Cuellar-Flores , Diego López de Lara , Raúl Castañeda-Vozmediano , María Miguélez González , Alicia Gaitero Pérez , Olga Pérez Rodríguez , Adrián García Ron
{"title":"Riesgo de trastorno por déficit de atención con hiperactividad, diagnósticos de salud mental y experiencia de discriminación en adolescentes y jóvenes transgénero","authors":"Carmen Martínez del Río , Isabel Cuellar-Flores , Diego López de Lara , Raúl Castañeda-Vozmediano , María Miguélez González , Alicia Gaitero Pérez , Olga Pérez Rodríguez , Adrián García Ron","doi":"10.1016/j.endinu.2025.501593","DOIUrl":"10.1016/j.endinu.2025.501593","url":null,"abstract":"<div><h3>Introduction</h3><div>Recent studies suggest a higher prevalence of attention-deficit hyperactivity disorder (ADHD) in transgender individuals compared to the general population. However, no studies have been conducted in the Spanish population, and most focus on individuals with a prior ADHD diagnosis rather than screening for the disorder.</div></div><div><h3>Materials and methods</h3><div>This is a single-center, cross-sectional observational study assessing the risk of ADHD in transgender adolescents and young adults compared to cisgender individuals using the World Health Organization's (WHO) Adult ADHD Self-Report Scale (ASRS-V1.1). Additionally, previous mental health diagnoses and experiences of discrimination are analyzed in both groups.</div></div><div><h3>Results</h3><div>Transgender youth scored higher on the short-form scale, indicating a greater risk of ADHD, as well as on the hyperactivity/impulsivity subscale. A significant association was also found between experiences of discrimination and a prior diagnosis of depression.</div></div><div><h3>Conclusions</h3><div>The ASRS-V1.1 scale may be useful for ADHD screening in transgender individuals; however, further studies are needed to confirm these findings. Risk factors for neurodevelopmental and anxiety-depressive disorders may differ in the transgender population.</div></div>","PeriodicalId":37725,"journal":{"name":"Endocrinologia, Diabetes y Nutricion","volume":"72 8","pages":"Article 501593"},"PeriodicalIF":0.0,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145134928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Santiago Conde Barreiro , Beatriz González Pelegrín , Bárbara Quevedo Beneyto , Cristina Feja Solana , Carmen Malo Aznar , Gemma Rojo-Martínez , Edelmiro Menéndez Torre , Fernando Gómez Peralta
{"title":"Estimación de la incidencia y prevalencia de la diabetes mellitus tipo 1 en menores de 15 años en España","authors":"Santiago Conde Barreiro , Beatriz González Pelegrín , Bárbara Quevedo Beneyto , Cristina Feja Solana , Carmen Malo Aznar , Gemma Rojo-Martínez , Edelmiro Menéndez Torre , Fernando Gómez Peralta","doi":"10.1016/j.endinu.2025.501591","DOIUrl":"10.1016/j.endinu.2025.501591","url":null,"abstract":"<div><h3>Introduction</h3><div>Epidemiological studies on type<!--> <!-->1 diabetes mellitus (DM1) have been developed in almost all the Spanish geography, but no registry currently provides national incidence and prevalence figures. This study aims to estimate the incidence of DM1 in children under 15<!--> <!-->years of age in Spain based on the available studies, and to know the prevalence of diabetes in children under 15<!--> <!-->years of age based from the data collected in the Primary Care Clinical Database (BDCAP).</div></div><div><h3>Material and methods</h3><div>Bibliographic review of publications and communications that provided data up to December 2020. Estimation of the average incidence in Spain, based on data from each autonomous community. Estimation of the prevalence of DM1 in children under 15<!--> <!-->years of age according to BDCAP.</div></div><div><h3>Results</h3><div>The reported incidences varied from 7.9 cases/100,000 population per year (c/10<sup>5</sup>ppy) in the Balearic Islands to 30.48 c/10<sup>5</sup>ppy in Gran Canaria. Diagnosis in diabetic ketoacidosis (DKA) is found in approximately one third of cases (21-43.7%). The average incidence of DM1 in children under 15<!--> <!-->years of age in Spain would be 20.54 c/10<sup>5</sup>ppy, with about 1,398 new cases per year. BDCAP records 12,346 cases of diabetes in children under 15<!--> <!-->years of age, with a prevalence of 1.96 cases/1,000 population.</div></div><div><h3>Conclusions</h3><div>There are studies of DM1 incidence in almost all Spanish communities. The incidence of DM1 in children under 15<!--> <!-->years of age in Spain is very high according to the WHO classification (><!--> <!-->20 c/10<sup>5</sup>ppy). The proportion of cases diagnosed with CAD is high, suggesting that programs to improve the early diagnosis of DM1 are still needed.</div></div>","PeriodicalId":37725,"journal":{"name":"Endocrinologia, Diabetes y Nutricion","volume":"72 7","pages":"Article 501591"},"PeriodicalIF":0.0,"publicationDate":"2025-04-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144722759","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}