Archives of Endocrinology Metabolism最新文献

{"title":"Response to the comment on \"Diagnostic value of a computer-assisted diagnosis system for the ultrasound features in thyroid nodules\".","authors":"Yiwei Wang","doi":"10.20945/2359-4292-2024-0526","DOIUrl":"10.20945/2359-4292-2024-0526","url":null,"abstract":"","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 1","pages":"e240526"},"PeriodicalIF":1.6,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11866477/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143517439","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Comment on the \"Diagnostic value of a computer- -assisted diagnosis system for the ultrasound features in thyroid nodules\".","authors":"Ahmet Bozer","doi":"10.20945/2359-4292-2024-0419","DOIUrl":"10.20945/2359-4292-2024-0419","url":null,"abstract":"","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 1","pages":"e240419"},"PeriodicalIF":1.6,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11866476/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143517436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Selenium nutritional status and thyroid dysfunction.","authors":"Luciana Sant'Ana Leone de Souza, Renata de Oliveira Campos, Jair de Souza Braga, Joice Dos Santos de Jesus, Helton Estrela Ramos, Sara Moreira Anunciação, Jéssica Fernanda Cassemiro, Pedro Resende Ferreira Rende, Fábio Hecht","doi":"10.20945/2359-4292-2023-0348","DOIUrl":"10.20945/2359-4292-2023-0348","url":null,"abstract":"<p><p>Selenium(Se) is an essential micronutrient for several immune and regulatory functions in the body. In thyroid tissue, Se contributes to the antioxidant system and is a crucial component of deiodinases, which are selenoproteins that participate in thyroid hormone metabolism. Additionally, this micronutrient exerts a significant impact on thyroid pathophysiology, as low levels of Se lead to reduced activity of glutathione peroxidase, a selenoprotein involved in antioxidative processes, thereby resulting in increased oxidative stress and damage to thyroid tissue. Selenium deficiency (SeD) can cause growth retardation and reproductive failure; in women and children, it may result in Keshan's disease and Kashin-Beck's disease. Research has shown an inverse correlation between Se serum levels and autoimmune thyroiditis in areas with mild SeD. In Graves' disease, Se supplementation has been linked to faster achievement of euthyroidism as well as improvements in quality of life, lessened orbital involvement, and slower ocular progression of the disease. Furthermore, several studies suggest an association between serum SeD and the development of thyroid cancer. Maintaining physiological Se concentrations appears to be related to the prevention of thyroid disease, although current data are insufficient to conclusively support or refute the efficacy of supplementation. Through this narrative review, we aim to present the latest information on the role of selenium in thyroid pathophysiology. To identify relevant literature, specific search strategies were employed in the electronic databases PubMed, Lilacs, and SciELO.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 1","pages":"e230348"},"PeriodicalIF":1.6,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11849045/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adult height of children born small for gestational age treated with growth hormone and gonadotropin-releasing hormone analogs in Southern Brazil.","authors":"Luís Eduardo Cruvinel Pinto, Adriane de Andre Cardoso-Demartini, Julienne Angela Ramires de Carvalho, Gabriela de Carvalho Kraemer, Rosana Marques Pereira, Aline Scheidemantel, Gabriel Junqueira Soares, Suzana Nesi-França","doi":"10.20945/2359-4292-2023-0513","DOIUrl":"10.20945/2359-4292-2023-0513","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate adult height and identify the factors contributing to its achievement in patients born small for gestational age (SGA) treated with recombinant human growth hormone (rhGH).</p><p><strong>Subjects and methods: </strong>This retrospective study includes data of SGA children treated at a pediatric endocrinology center. Inclusion criteria were SGA birth (birth length and/or weight < -1.28 standard deviation score (SDS), absence of catch-up growth by the age of four years, rhGH treatment for more than 12 months, and recorded adult height. Birth size SDS was calculated using Intergrowth-21st (gestational age ≥ 33 weeks) or Fenton (<33 weeks) standards. Patients with uncontrolled chronic diseases, genetic syndromes, or growth hormone deficiency were excluded. An increase of 0.6 SDS or more was considered a positive response.</p><p><strong>Results: </strong>Twenty-four patients (14 boys) were included, with an average gestational age of 38.0 (range: 33.0-40.0) weeks, birth weight of -1.3 ± 0.9 SDS, and birth length of -2.4 ± 0.7 SDS. They were treated with rhGH starting at an average age of 10.3 ± 2.6 years for a duration of 5.4 ± 2.3 years. Height SDS increased from -2.6 ± 0.4 SDS to -1.2 ± 0.6 SDS, which was comparable to the target height SDS (-1.3 ± 0.9; p = 0.3). Although 18 children were classified as good responders, 6 did not achieve a final height SDS > -2.0. Adult height was correlated with the increment in height SDS and growth velocity during the first year of treatment. No significant differences were observed between children classified as SGA by birth weight or length < 10th percentile and those by weight or length < -2.0 SDS.</p><p><strong>Conclusion: </strong>In this cohort of children born SGA with short stature, rhGH treatment effectively improved adult height. Given the diverse causes of being born SGA, the response to rhGH therapy may vary.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 1","pages":"e230513"},"PeriodicalIF":1.6,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11849044/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494835","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pathogenicity of germline VHL variants is associated with renal cell carcinoma size in von Hippel-Lindau disease.","authors":"Gustavo H Mori, Gustavo F C Fagundes, Lucas S Santana, Felipe Freitas-Castro, Ana Caroline F Afonso, Delmar M Lourenço, Maria Adelaide A Pereira, Fabio Y Tanno, Victor Srougi, Jose L Chambo, Mauricio D Cordeiro, William C Nahas, Ana O Hoff, Maria Candida B V Fragoso, Berenice B Mendonca, Ana Claudia Latronico, Madson Q Almeida","doi":"10.20945/2359-4292-2024-0354","DOIUrl":"10.20945/2359-4292-2024-0354","url":null,"abstract":"<p><strong>Objective: </strong>In this study, our aim was to search for new genotype-phenotype correlations in patients with Von Hippel-Lindau (VHL) disease.</p><p><strong>Subjects and methods: </strong>We retrospectively studied 53 consecutive patients with VHL disease and confirmed genetic diagnoses from 32 relatives.</p><p><strong>Results: </strong>Most VHL pathogenic or likely pathogenic variants were missense (18 out of 32; 56.25%). The median size of the large carcinoma (RCC) was 3.6 cm (interquartile range, 2.8 to 6.5 cm). Interestingly, the size of the large RCC in patients harboring VHL pathogenic variants (n = 9) was significantly greater than that in patients with VHL likely pathogenic (n = 7) variants (5.4 cm [3.65 to 6.6] vs. 2.9 cm [2.45 to 3.35]; p = 0.008). Moreover, adrenal paraganglioma (PGL) (82.35% vs. 17.65%; p = 0.0001) and pancreatic neuroendocrine tumor (PNET) (81.81% vs. 18.18%; p = 0.007) were associated with missense VHL pathogenic or likely pathogenic variants compared with non-missense defects. In contrast, central nervous system (CNS) hemangioblastomas (HBs) (90.47% vs. 53.12%; p = 0.004), pancreatic cysts (76.19% vs. 28.12%; p = 0.001) and RCCs (57.14% vs. 12.5; p = 0.001) were more common in patients with non-missense VHL variants.</p><p><strong>Conclusion: </strong>VHL pathogenic variants were associated with larger RCCs than were VHL likely pathogenic variants.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 1","pages":"e240354"},"PeriodicalIF":1.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11834860/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143410701","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Audiological alterations in resistance to thyroid hormone syndrome: emphasizing lifelong assessment.","authors":"Alexandre Machado Silva de Oliveira, Viviane Motti, Jessica Casemiro, Pedro Resende Rende, Caio Leônidas Oliveira de Andrade, Luciene da Cruz Fernande, Helton Estrela Ramos","doi":"10.20945/2359-4292-2024-0078","DOIUrl":"10.20945/2359-4292-2024-0078","url":null,"abstract":"<p><p>The aim of this study was to investigate the long-term audiological consequences of resistance to thyroid hormone (RTH) syndrome. The cochlea and inner ear express thyroid hormone receptor beta (THRB) in developmental stages. Hearing loss is frequent in subjects with RTH syndrome; however, the long-term impact of insufficient thyroid hormone action in the auditory system remains unknown. Subjects with RTH from the same family, carrying a THRB gene variant, underwent detailed clinical evaluation and serum biochemistry analysis. The genetic assessment involved sequencing of the THRB gene. Hearing loss assessment included (i) meatoscopy, (ii) audiometric tests using pure tone audiometry, (iii) middle ear evaluation by tympanometry, (iv) transient otoacoustic emissions (TOAE), and (v) computed tomography of the mastoids. Genetic sequencing confirmed the THRB gene alteration (p.M442T) in three family members. All affected subjects had clinical and laboratory RTH features. Notably, the older subject with RTH was affected by a bilateral sensorineural hearing loss pattern affected by high frequencies, and cochlear dysfunction was also presented by TOAE analysis, indicating pronounced hearing loss. Hearing loss represents a significant concern in subjects with RTH, emphasizing the need for continuous and comprehensive audiological assessments. These findings underscore the importance of lifelong monitoring, particularly to assess age-related progression of hearing impairment.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 1","pages":"e240078"},"PeriodicalIF":1.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11834861/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Does Radiofrequency Echographic Multi-Spectrometry (REMS) perform similarly to Dual-energy X-ray Absorptiometry (DXA) in terms of Trabecular Bone Score (TBS) and FRAX?","authors":"Débora Meira Ramos Amorim, Eliane Naomi Sakane, Sergio Setsuo Maeda, Marise Lazaretti-Castro","doi":"10.20945/2359-4292-2023-0456","DOIUrl":"10.20945/2359-4292-2023-0456","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate whether bone assessment by radiofrequency echographic multi-spectrometry (REMS) is influenced by trabecular bone integrity by comparing it to dual-energy X-ray absorptiometry (DXA) and the trabecular bone score (TBS). Additionally, the study aims to determine if comparing fracture risk using FRAX and the National Osteoporosis Guideline Group (NOGG) using the T-score from each method would lead to differences in a Brazilian female population.</p><p><strong>Subjects and methods: </strong>A sample of women aged 30-80 underwent REMS and DXA scans of axial sites at the Hospital São Paulo, Brazil. Subsequently, TBS was applied to DXA exams. Clinical data were obtained from hospital records and phone interviews to calculate fracture risk.</p><p><strong>Results: </strong>Among the 343 participants enrolled, 213 had comparable lumbar spine exams by REMS, DXA, and TBS, and 166 had comparable hip exams by REMS and DXA. The correlation between lumbar spine bone mineral density (BMD) by REMS and the TBS was low (r = 0.27, p < 0.001), as was the correlation between DXA and TBS (r = 0.39, p < 0.001). No statistically significant difference was found between the TBS classifications of osteoporotic lumbar spine by REMS and DXA (p = 0.178). Fracture risk data by FRAX were obtained from 119 participants, with 92% receiving concordant NOGG classifications for major osteoporotic fracture risk from REMS and DXA (κ = 0.71 CI95% (0.54 to 0.89), p < 0.001), and 87% for hip fracture risk (κ = 0.58 CI95% (0.38 to 0.77), p < 0.001).</p><p><strong>Conclusion: </strong>REMS performed similarly to DXA in assessing trabecular integrity using TBS. Additionally, no statistically significant difference was observed in fracture risk assessment by FRAX based on NOGG recommendations.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 1","pages":"e230456"},"PeriodicalIF":1.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11834824/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A paradigm shift in nutritional clinical practice: filling a gap on the implementation of the Dietary Guidelines for the Brazilian Population.","authors":"Kamila Tiemann Gabe, Carlos Augusto Monteiro","doi":"10.20945/2359-4292-2024-0446","DOIUrl":"10.20945/2359-4292-2024-0446","url":null,"abstract":"","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 1","pages":"e240446"},"PeriodicalIF":1.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11834859/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411520","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Microscopic testicular sperm extraction in 46, XY differences in sex development caused by 5-alpha reductase type 2 deficiency.","authors":"Joao Paulo Greco Cardoso, Berenice Bilharinho Mendonça, William Carlos Nahas, Marcello Antonio Signorelli Cocuzza","doi":"10.20945/2359-4292-2024-0223","DOIUrl":"10.20945/2359-4292-2024-0223","url":null,"abstract":"<p><p>The 46, XY differences in sex development (DSD) caused by 5-alpha reductase type 2 (5ARD2) often presents with bilateral undescended testicles, otherwise normal internal reproductive structures, prostate hypoplasia and undervirilized male genitalia. Notably, as one of the few DSDs where fertility is possible, the clinical presentation of this disease is diverse, and reported cases of assisted reproduction are scarce. The fertility potential, reproductive counseling and treatment depend on the clinical presentation of this DSD, especially the testicular position and urethral anatomy. The influence of the timing and modality of surgery for hypospadias and cryptorchidism should be considered. We aimed to describe the use of microscopic testicular sperm extraction (micro-TESE) in this population. We provide a descriptive analysis of how micro-TESE is a possible potential tool for assisted reproduction in 5ARD2-deficient patients. A 33-year-old male who underwent bilateral orchidopexy, phalloplasty, and urethroplasty at the age of 9 years presented successful sperm retrieval but failed embryo development after intracytoplasmic sperm injection. Testicular histology revealed late spermatogenic arrest. A 28-year-old male with bilateral orchidopexy, phalloplasty, and urethroplasty at age 25 with unsuccessful sperm retrieval. Testicular histology revealed a Sertoli cell-only pattern. 5ARD2-deficient patients are singular patients. The potential impact of the time between atypical genitalia procedures and orchidopexy on fertility should be highly considered. Micro-TESE is a technique that may be used to assist azoospermic patients in this population. Early orchidopexy and penile and urethral corrections should be considered key strategies to preserve the fertility potential of 5ARD2 patients.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 1","pages":"e240223"},"PeriodicalIF":1.6,"publicationDate":"2025-02-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11834858/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Translating the Brazilian Dietary Guidelines into clinical practice: innovative strategies for healthcare professionals.","authors":"Vanessa Del Castillo Silva Couto, Maria Laura da Costa Louzada, Patrícia Constante Jaime","doi":"10.20945/2359-4292-2024-0142","DOIUrl":"10.20945/2359-4292-2024-0142","url":null,"abstract":"<p><p>The Brazilian Dietary Guidelines provide crucial recommendations for a healthy diet, aiming at promoting health and preventing non-communicable chronic diseases. The core principle is the preference for natural or minimally processed foods and freshly prepared dishes over ultra-processed foods. Despite their growing recognition, healthcare professionals struggle to integrate these guidelines into clinical practice. This article aims to present two innovative strategies for incorporating the Brazilian Dietary Guidelines into healthcare. The Protocols based on the Brazilian Dietary Guidelines for Individual Dietary Advice are standardized clinical tools to support healthcare professionals (nutritionists or not) in giving nutritional advice during individual appointments to various life stages. The Protocols operationalize the assessment of individuals' dietary patterns using the Food Consumption Markers Questionnaire and support the delivery of personalized and priority recommendations through a stepwise flowchart. Conversely, Brazilian Dietary Guidelines-based Meal Plans consist of personalized dietary prescriptions comprising structured daily menus that, unlike conventional plans primarily focusing on nutrient goals, prioritize overall eating patterns guided by the Brazilian Dietary Guidelines. The proposal encourages, in the first place, the selection of a variety of culinary preparations based on natural or minimally processed foods, emphasizing tasteful, accessible, and culturally appropriate choices as the initial step. In a second step, these plans can be customized to individual energy requirements, and adjustments made based on strategic nutrient needs. This article aims to support the enhancement of healthcare professionals' skills in promoting healthy eating practices, thereby contributing to improved health and a reduced disease burden among the Brazilian population.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 1","pages":"e240142"},"PeriodicalIF":1.6,"publicationDate":"2025-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11834862/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143400810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}