Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo最新文献

{"title":"Aerobic fitness, phase angle, and bioelectrical impedance vector analysis in adolescents living with HIV: a cross-sectional study.","authors":"Marcos Cezar Pitombo da Silva Junior, Diego Augusto Santos Silva, Priscila Custódio Martins, Nassib Bezerra Bueno, Fabiana Andréa Moura, Luiz Rodrigo Augustemak de Lima","doi":"10.1590/1984-0462/2025/43/2024277","DOIUrl":"10.1590/1984-0462/2025/43/2024277","url":null,"abstract":"<p><strong>Objective: </strong>To analyze the association between phase angle (PhA) and bioelectrical impedance vector analysis (BIVA) with aerobic fitness in HIV+ adolescents.</p><p><strong>Methods: </strong>Aerobic fitness was assessed using the modified Canadian Aerobic Fitness Test, PhA, and BIVA by bioelectrical impedance analysis. Multivariable linear regression was performed to test the association between peak oxygen consumption (peak VO2) and PhA. BIVA ellipses were evaluated considering a reference population of Spanish adolescents.</p><p><strong>Results: </strong>Forty-seven HIV-infected adolescents (10-18 years old) were included; 25 (53%) were females. Mean peak VO2 and PhA were 48.9 standard deviation (±) 7.0 ml.kg-1.min-1 and 4.6±1.4 degrees, respectively. Multivariable analysis revealed a significant positive association between peak VO2 and PhA (βstd=0.349; p=0.025). Peak VO2 adjusted for covariates explained 49% of PhA variation. BIVA ellipses indicated lower classifications for body cell mass (BCM) and fatfree mass (FFM) in HIV+ adolescents (vs reference population) (p<0.001). HIV+ females (vs HIV+ males) showed a higher classification for dehydration and a lower classification for BCM (p=0.007). No relevant differences were found between the subgroups based on aerobic fitness (p=0.735).</p><p><strong>Conclusions: </strong>A significant association exists between peak VO2 and PhA in HIV+ adolescents. Alterations in hydration and lower classifications for BCM and FFM were observed in this population.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024277"},"PeriodicalIF":2.0,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12313315/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144746425","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is there a relationship between parental concern and suspicion of developmental delay?","authors":"Mitali Lopes Melo, Daniela Akemi Tezuka Yamazaki, Luziani Leão Dos Santos, Janaina Medeiros de Souza, Rafaela Silva Moreira","doi":"10.1590/1984-0462/2025/43/2024187","DOIUrl":"10.1590/1984-0462/2025/43/2024187","url":null,"abstract":"<p><strong>Objective: </strong>To investigate the existence of an association between parents' concerns about their child's development and alterations in the child's development, risk factors, and family socioeconomic status.</p><p><strong>Methods: </strong>A cross-sectional study was performed, using data collected at child care centers in municipalities in the south of Santa Catarina, Brazil, from parents of children aged between four and 65 months. Information about parental concerns, child development, and family risk factors was collected using the \"Survey of Wellbeing of Young Children (SWYC-BR)\" instrument. The \"Classification of the Brazilian Association of Research Companies\" was applied to classify socioeconomic status. The data were then subjected to a multivariate analysis using the R Studio software. A significance level of 0.05 was adopted.</p><p><strong>Results: </strong>A total of 498 children participated in the study, with an average age of 41 months. The multivariate analysis revealed that parents who expressed concern about their children's current development are approximately three times more likely to have children with suspected developmental delay (prevalence ratio - PR 2,97; 95% confidence interval - 95%CI 1.85-4.33). Furthermore, abuse of illicit substances increases the risk of children with suspected delay by almost two times (p=0.034). However, the other environmental variables were not associated with developmental delay.</p><p><strong>Conclusions: </strong>The study demonstrated that parents' concern about their child's development is a significant predictor of suspected developmental delay. This finding highlights the importance of considering parental concern as a factor in developmental monitoring and family-centered intervention programs.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024187"},"PeriodicalIF":2.0,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12313316/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144746426","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Prognostic factors of neuroblastoma in limited-resource settings.","authors":"Roberta Gomes Ribeiro Gonçalves Pinto, Mecneide Mendes Lins, Kaline Maria Maciel de Oliveira Pereira, Ticiana Ester Mattos Pascoal Meira, Eduarda Coutinho Albuquerque Neiva Coêlho, Alice Rodrigues Barbosa de Moraes, Marina Lundgren de Melo Batista, Leticia Ribeiro Maciel Pereira, Maria Júlia Gonçalves de Mello","doi":"10.1590/1984-0462/2025/43/2024200","DOIUrl":"10.1590/1984-0462/2025/43/2024200","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to analyze survival and risk factors for death in children with neuroblastoma that may contribute to a viable risk classification for low-income countries.</p><p><strong>Methods: </strong>A historic cohort involving patients under 19 years of age with neuroblastoma was followed at a reference center in Northeast Brazil between July 2005 and July 2020. Data on sociodemographic, were collected. The outcomes studied were recurrence, disease progression, and five-year mortality. Multivariate analysis of Cox proportional hazards for death was performed. Overall and eventfree survivals were evaluated using the Kaplan-Meier method and the comparison between the groups studied, by the log-rank test.</p><p><strong>Results: </strong>Patients (n=126) were predominantly female with a median age of 26.5 months. Most presented primary adrenal, tumor stage 4 according to the International Neuroblastoma Staging System, unfavorable histology, and median serum lactate dehydrogenase (LDH) levels of 640.5 U/L. LDH≥640.5 U/L (hazard ratio [HRa] 2.49; 95% confidence interval [CI] 1.57-3.95; p<0.001) and stage 4 (HRa 1.67; 95%CI 1.00-2.78; p=0.047) were identified as risk factors for death. The overall survival was 32.4%, showing distinct curves regarding LDH serum levels and staging (log-rank p<0.05); the event-free survival was 26.3%.</p><p><strong>Conclusions: </strong>Elevated LDH serum levels were a risk factor for five-year mortality, and can be utilized as a prognostic marker in resource-limited settings.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024200"},"PeriodicalIF":2.0,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12313317/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144746438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Undescended testis: an epidemiological study from a single institution.","authors":"Marcela Almeida Bazaga, Márcia Emília Francisco Shida, Mila Torii Corrêa Leite","doi":"10.1590/1984-0462/2025/43/2024186","DOIUrl":"10.1590/1984-0462/2025/43/2024186","url":null,"abstract":"<p><strong>Objective: </strong>The aim of this study was to assess the referral and treatment timelines for patients with undescended testis treated in the Pediatric Surgery Division at Escola Paulista de Medicina/UNIFESP.</p><p><strong>Methods: </strong>Retrospective review of patients treated for undescended testis at a tertiary care institution from 1992 to 2021. Ethical approval was granted by the institutional ethics committee. Data collected included patients' demographics and clinical characteristics, referral age, age at orchidopexy, testis laterality and position prior to surgery, and duration of postoperative follow-up. A descriptive analysis was performed for each variable, excluding patients with incomplete medical records.</p><p><strong>Results: </strong>In the cohort of 350 patients with undescended testis, 72.6% had unilateral and 27.4% bilateral presentations; and 8% of the patients had differences in sex development. Ultrasound was requested in 19.5% of cases. The average age at referral was 47.3 standard deviation (±) 41.6 months, with 72.5% referred after 18 months. Among 131 orchidopexy procedures, 12.8% were performed before 12 months of age, 15.9% until 18 months, and the majority after 60 months. Of the 120 patients who underwent surgery, only 78.3% had postoperative follow-up data, and 52.1% lost follow-up. The average follow-up period was 23.1±26.20 months.</p><p><strong>Conclusions: </strong>The average age at diagnosis and treatment of undescended testis was higher than recommended by international guidelines, indicating the need for enhanced medical and non-medical community referral practices.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024186"},"PeriodicalIF":0.0,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12208631/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144562248","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Air pollution and respiratory diseases in conurbated cities in the state of São Paulo.","authors":"Luiz Fernando Costa Nascimento, Ana Clara Silva Raposo de Almeida, Julia Ferreira Gomes Pereira, Mariana Telles de Castro, Adriana Oliveira Ribeiro Dos Santos","doi":"10.1590/1984-0462/2025/43/2024178","DOIUrl":"10.1590/1984-0462/2025/43/2024178","url":null,"abstract":"<p><strong>Objective: </strong>To estimate the association between exposure to particulate matter with less than 10u of aerodynamic diameter (PM10) and hospital admissions due to acute respiratory diseases in children.</p><p><strong>Methods: </strong>This is an ecological time series study with data on hospitalizations for respiratory diseases in children living in the conurbated cities of Taubaté, Tremembé, and Pindamonhangaba located in the Vale do Paraíba in São Paulo. Hospital admission data refer to the period between January 1, 2016 and December 31, 2019. Information on hospital admissions was obtained from the DATASUS database, and concentration values (μg/m3) of the pollutant PM10, temperature, and humidity relative air were obtained from the Environmental Company of the State of São Paulo. Negative binomial regression was used. Population attributable fraction and hospitalization costs were estimated.</p><p><strong>Results: </strong>A total of 1,291 hospitalizations were identified in the conurbated municipalities with a daily average of 0.88 standard deviation (±) 1.06, varying between 0-7 hospitalizations. Significant exposures to PM10 can be observed at all lags, except the four-day lag (Lag 4). The total cost of hospitalizations was around US$ 800,000.00 and the excess number of hospitalizations (135) represented an expense of around US$ 80,000.00.</p><p><strong>Conclusions: </strong>Studies with conurbated cities are easily applicable, extending the study area. The results reinforce the harmful role of exposure to air pollutants in children's health.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024178"},"PeriodicalIF":0.0,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12208630/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144562319","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Postural control in early stages of Duchenne muscular dystrophy.","authors":"Cristhina Bonilha Huster Siegle, Flaviana Kelly de Lima Maciel, Pedro Claudio Gonsales de Castro, Daniel Seiei Uehara Tamashiro, Cristina Dos Santos Cardoso de Sá","doi":"10.1590/1984-0462/2025/43/2024243","DOIUrl":"10.1590/1984-0462/2025/43/2024243","url":null,"abstract":"<p><strong>Objective: </strong>To verify whether there is an increase in the center of pressure (COP) displacement velocity and area in individuals with Duchenne muscular dystrophy (DMD) in Vignos stages 2 and 3, assessed under different sensory conditions; to verify whether COP displacement velocity and area increase within the same Vignos stage with changes in sensory conditions during postural control assessment.</p><p><strong>Methods: </strong>A cross-sectional study was conducted with individuals with DMD in Vignos stages 2 and 3, aged between 7 and 19 years old (mean 9.58, SD±3.22). Postural control was assessed using the Wii Balance Board and a modified sensory organization test. COP displacement velocity and area were recorded. Independent samples t-tests were performed to compare the average values of these variables between Vignos 2 and 3 under each sensory condition and within the same Vignos stage across different sensory conditions.</p><p><strong>Results: </strong>No significant difference were found in any analyzed variable between Vignos 2 and 3. However. A significant difference was observed when comparing sensory condition 1 with condition 4, within the same disease stage.</p><p><strong>Conclusions: </strong>Despite the decrease in muscle strength from Vignos 2 to 3, participants were able to employ motor strategies to maintain postural control. However, postural control performance significantly worsens with changes in sensory conditions within the same Vignos stage.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024243"},"PeriodicalIF":0.0,"publicationDate":"2025-06-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12208632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144562320","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Secular trend in height and associated factors among adolescents in Florianópolis, Santa Catarina, Brazil, between 2007 and 2017/2018.","authors":"Clair Costa Miranda, Jean Carlos Parmigiani De Marco, André de Araújo Pinto, Andreia Pelegrini","doi":"10.1590/1984-0462/2025/43/2024159","DOIUrl":"https://doi.org/10.1590/1984-0462/2025/43/2024159","url":null,"abstract":"<p><strong>Objective: </strong>To assess the secular trend in height among adolescents in Florianópolis between 2007 and 2017/2018, and identify factors associated with height by sex.</p><p><strong>Methods: </strong>The sample included 664 adolescents from public schools in 2007 and 1,008 in 2017/2018. Height was the dependent variable, with age, economic status, sexual maturity, physical activity, body fat (skinfold thickness), and fat-free mass as independent variables. Analysis of covariance evaluated the secular trend, and multiple linear regression identified associated factors.</p><p><strong>Results: </strong>There was a positive secular trend in height in both sexes when comparing the two surveys, with average increases of 3.5 cm in both sexes. Fat-free mass was a positive predictor and body fat was a negative predictor of height in both sexes. Additionally, physical activity emerged as a negative predictor of height specifically in boys.</p><p><strong>Conclusions: </strong>The research revealed a positive secular trend in the height of adolescents in Florianópolis. Fat-free mass contributes positively to gains in height, whereas body fat provides a negative contribution.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024159"},"PeriodicalIF":0.0,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12052308/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144060751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Associations between children's dietary patterns, excessive weight gain, and obesity risk: cohort study nested to a randomized field trial.","authors":"Paola Seffrin Baratto, Caroline Nicola Sangalli, Paula Dos Santos Leffa, Julia Luzzi Valmorbida, Marcia Regina Vitolo","doi":"10.1590/1984-0462/2025/43/2024117","DOIUrl":"10.1590/1984-0462/2025/43/2024117","url":null,"abstract":"<p><strong>Objective: </strong>To identify the critical period of excessive weight gain (EWG) in childhood and the dietary patterns associated with it.</p><p><strong>Methods: </strong>A cohort study nested to a randomized field trial with mother-child pairs interviewed by home visits at ages six months, 12 months, three years, and six years. We selected 715 pregnant women from 20 healthcare centers in southern Brazil. EWG was considered as a change in body mass index-for-age (BMI-for-age) z-score >0.67. Two 24-hour recalls were used to determine the dietary patterns by exploratory factor analysis. The effect of dietary patterns on EWG was assessed by logistic regressions using Generalized Estimating Equations.</p><p><strong>Results: </strong>The critical period for EWG was from six to 12 months (46.5% BMI variation >0.67; n=228; p≤0.001). Dietary patterns at six months associated with EWG were baby bottles of cow´s milk added to baby cereal flours and added sugar (relative risk - RR 1.43; 95% confidence interval - 95%CI 1.15-1.79; p≤0.001 and RR 1.59; 95%CI 1.28-1.97, p≤0.001); fruit juice and creamy dessert (RR 1.39; 95%CI 1.08-1.33; p≤0.001) and sweet beverages (RR 1.19; 95%CI 1.02-1.38; p=0.024).</p><p><strong>Conclusions: </strong>The second semester of life was the most critical period for EWG in childhood, influenced mostly by the consumption of cow's milk added with baby cereal flour and sugar, fruit juice, creamy desserts, and sweet beverages. These findings emphasize the importance of early dietary interventions to promote healthier food choices and prevent EWG during infancy.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024117"},"PeriodicalIF":0.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11940748/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712517","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Forced expiration technique: impact on the respiratory mechanics parameters of children and adolescents with cystic fibrosis.","authors":"Patricia Morgana Rentz Keil, Renata Maba Gonçalves Wamosy, Tayná Castilho, Juliana Cardoso, Camila Isabel Santos Schivinski","doi":"10.1590/1984-0462/2025/43/2024155","DOIUrl":"10.1590/1984-0462/2025/43/2024155","url":null,"abstract":"<p><strong>Objective: </strong>Determine the immediate effect of forced expiration technique (FET) on the respiratory mechanics of children and adolescents with cystic fibrosis (CF). As a secondary objective, the effect of cough induced by FET was evaluated by comparing respiratory mechanics and lung function between those who coughed and those who did not during the FET.</p><p><strong>Methods: </strong>A before-after clinical trial was conducted with children and adolescents with CF aged six to 15 years. Respiratory mechanics parameters were assessed using the impulse oscillometry system (IOS) in three stages: basal IOS, post-huff IOS, and final post-diaphragmatic breathing exercises (DBE) IOS. For the intervention, FET was requested with five low-volume followed by three high-volume huffs, and finally ten DBE repetitions. Coughing occurred randomly and was not previously requested. To investigate whether FET-induced coughing alters oscillometric parameters, the participants were divided into two groups: those who presented with cough (CG) during the protocol and those who did not (NCG).</p><p><strong>Results: </strong>Forty-three children and adolescents with CF participated in the study (51.2% female), with an average age of 10.44±2.64 years, where forced expiratory value - FEV1=78.51±23.28%, and body mass index - BMI=17.18±2.24 kg/m2. The huffing sequence increased all oscillometric parameters, while DBE repetitions led to an increase in these parameters, without a complete return to baseline values. In terms of coughing, there was no significant difference between the NCG and CG in any of the parameters studied.</p><p><strong>Conclusions: </strong>It was observed that, during the FET, diaphragmatic breathing exercises can attenuate the effort exerted by the forced expiratory maneuver on the airways.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024155"},"PeriodicalIF":0.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11940708/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712521","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Multiple endocrine neoplasia type 1 in childhood and description of a novel variant.","authors":"Mayara Teixeira Alexandrino Sales, Rebeca Costa Castelo Branco, Carlos Henrique Paiva Granjeiro, Milena Silva Sousa, Luciana Felipe Férrer Aragão, Annelise Barreto de Carvalho, Ana Paula Dias Rangel Montenegro, Ana Rosa Pinto Quidute","doi":"10.1590/1984-0462/2025/43/2024175","DOIUrl":"10.1590/1984-0462/2025/43/2024175","url":null,"abstract":"<p><strong>Objective: </strong>To describe a case of multiple endocrine neoplasia type 1 in the pediatric age group and its molecular diagnosis.</p><p><strong>Case description: </strong>An 11-year-old boy began to present generalized tonic-clonic seizures in the presence of hypoglycemia, with high insulin dosage, leading to suspicion of insulinoma. Abdominal magnetic resonance imaging confirmed a pancreatic nodule, which was surgically resected, resulting in glycemic normalization. Low growth hormone levels and hyperprolactinemia, secondary to macroprolactinoma, were also identified. Treatment with cabergoline led to a reduction in size. Hyperparathyroidism was found asymptomatically, with parathyroid scintigraphy suggestive of adenoma, thus, the patient underwent subtotal parathyroidectomy and thymectomy with resolution of the condition. He entered puberty spontaneously at 15 years of age; however, he had decreased growth speed, short stature, and low insulin-like growth factor 1 (IGF-1) levels, indicating recombinant growth hormone. The next-generation sequencing panel for multiple endocrine neoplasia type 1 identified a probably pathogenic variant c.442A>C: p.(Thr148Pro) in heterozygosity in the MEN1 gene, without previous description in databases (ClinVar).</p><p><strong>Comments: </strong>We highlight the pre-pubertal age of multiple endocrine neoplasia type 1 diagnosis, which is made before age 21 in only 12-17% of cases, and hypoglycemia secondary to insulinoma as the initial manifestation, differing from what is most frequently described, namely prolactinoma and parathyroid adenoma. The clinical diagnosis was made based on the occurrence of two primary endocrine tumors and confirmed through a next-generation sequencing panel, with a variant not previously described in ClinVar.</p>","PeriodicalId":74721,"journal":{"name":"Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo","volume":"43 ","pages":"e2024175"},"PeriodicalIF":0.0,"publicationDate":"2025-03-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11940707/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143712524","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}