Pediatric Endocrinology, Diabetes and Metabolism最新文献

{"title":"Epidemiology of type 1 diabetes in Podlasie region, Poland, in years 2010-2022 - 13-years-single-center study, including COVID-19 pandemic perspective.","authors":"Maciej Szabłowski, Paweł Klimas, Natalia Wiktorzak, Michał Okruszko, Joanna Peczyńska, Milena Jamiołkowska-Sztabkowska, Hanna Borysewicz-Sańczyk, Agnieszka Polkowska, Aneta Zasim, Klaudyna Noiszewska, Barbara Głowińska-Olszewska, Artur Bossowski","doi":"10.5114/pedm.2025.149201","DOIUrl":"https://doi.org/10.5114/pedm.2025.149201","url":null,"abstract":"<p><strong>Introduction: </strong>Diabetes is undeniably a pandemic of the 21st century. Although type 1 diabetes mellitus (T1DM) only represents 10% of all diabetes cases, it dominates the pediatric population. The number of T1DM cases is accelerating, and Poland is one of the countries with the fastest increase in incidence.</p><p><strong>Aim of the study: </strong>To evaluate the epidemiological situation in T1DM in Podlaskie region, Poland.</p><p><strong>Material and methods: </strong>The study included 777 patients (369 girls and 408 boys) under 18. Incidence rates were calculated and standardized to an age-matched population (general population of Poland 2010).</p><p><strong>Results: </strong>We showed an upward trend in the number of cases during the analyzed period (R2 = 0.6, p = 0.001). The average incidence rate grew during the study period from 19.22/100,000 in 2010 to 34.11/100,000 in 2022, a 1.77-fold increase over the study period. The youngest age group (0-4 years old) showed the most prominent, nearly 2.3-fold rise, from 9.86/100,000 in 2010 to 22.56/100,000 in 2022. We have also demonstrated the possible impact of the COVID pandemic - after a decrease in 2020 we observed an increase of the incidence rate in 2021 up to 38.05/100,000 and in 2022 to 34/100,000.</p><p><strong>Conclusions: </strong>The incidence of type 1 diabetes in Podlaskie Voivodeship, Poland, continues its upward trend. Various factors may influence this, but the potential impact of the COVID-19 pandemic is worth considering.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 1","pages":"9-16"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12051105/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144031696","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":"Study of some biological markers in cord blood of preterm and term infants and their association with neonatal sepsis.","authors":"Juhi Aggarwal, Jyoti Batra, Urvashi Midha, Alka Aggarwal, Mahmood Ahmad Khan, Vishwajeet Rohil","doi":"10.5114/pedm.2025.148398","DOIUrl":"https://doi.org/10.5114/pedm.2025.148398","url":null,"abstract":"<p><strong>Introduction: </strong>Neonatal sepsis is the third leading cause of neonatal mortality, which occurs due to bacterial infection and is a major public health problem, especially in developing countries. Efforts to reduce the rates of infection in this vulnerable population are one of the most important interventions in neonatal care. This study aimed to compare the levels of biomarkers such as presepsin, procalcitonin, interleukin 6 (IL-6), fetuin, and CRP in cord blood between preterm and term infants and evaluate their association with neonatal sepsis.</p><p><strong>Material and methods: </strong>A total of 176 infants were included in this study. Cord blood samples were collected from preterm (gestational age < 37 weeks) and term (gestational age ≥ 37 weeks) infants immediately after delivery. Umbilical cord blood was assessed for C-reactive protein (CRP), presepsin, procalcitonin, IL-6, and fetuin by using enzyme-linked immunosorbent assay (ELISA). The Pearson correlation coefficient test (r) was used to test for a positive or negative relationship between 2 (presepsin and fetuin) variables with CRP and procalcitonin. A receiver operating characteristic (ROC) analysis was executed to describe a cutoff value of the studied biomarkers.</p><p><strong>Results: </strong>When compared to term newborns, preterm infants have considerably higher values for CRP, presepsin, procalcitonin, and IL-6. Elevated levels of presepsin, procalcitonin, and IL-6 in cord blood were significantly associated with an increased risk of neonatal distress in both preterm and term infants (p < 0.05). Fetuin levels showed a trend towards association with neonatal distress but did not reach statistical significant. A Pearson correlation study between CRP and presepsin and fetuin shows that CRP is positively correlated with presepsin; however, procalcitonin shows positive correlation with fetuin. Further, these results were confirmed with ROC analysis.</p><p><strong>Conclusions: </strong>In early diagnosis of neonatal sepsis, compared with procalcitonin, presepsin and IL-6 seems to provide better early diagnostic value with consequent rapid therapeutic decision making and possible positive impact on neonatal prognosis. Elevated levels of these biomarkers are associated with risk of neonatal distress, highlighting their potential utility as early markers for identifying at-risk infants.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 1","pages":"17-24"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12051100/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144040634","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":"Cross-sectional evaluation of people with type 1 diabetes participating in the GoPump Structured Diabetes Education Program during \"Insulin Pump Weeks\".","authors":"Marta Najmanowicz, Weronika Gajda, Aleksandra Nowatkowska, Mikołaj Kamiński, Aleksandra Cieluch, Alicja Sroczyńska, Anna Kreczmer, Magdalena Michalak, Anna Adamska, Urszula Frąckowiak, Mateusz Michalski, Aleksandra Araszkiewicz, Dorota Zozulińska-Ziółkiewicz, Andrzej Gawrecki","doi":"10.5114/pedm.2025.148400","DOIUrl":"https://doi.org/10.5114/pedm.2025.148400","url":null,"abstract":"<p><strong>Introduction: </strong>Despite advances in therapy, most persons with type 1 diabetes (PwT1Ds) do not achieve treatment goals. Education is fundamental to the care of PwT1Ds treated with continuous subcutaneous insulin infusion (CSII).</p><p><strong>Aim of the study: </strong>To evaluate PwT1Ds treated with CSII and receiving in-hospital education and to identify factors associated with treatment effectiveness.</p><p><strong>Material and methods: </strong>This cross-sectional study included adults with type 1 diabetes (T1D), who received diabetes education using the proprietary Structured Diabetes Education Program, GoPump, during \"Insulin Pump Weeks\" in 2022-2023. Metabolic control of diabetes was evaluated. Reports from personal insulin pumps, blood glucose meters, and continuous glucose monitoring (CGM) systems were assessed.</p><p><strong>Results: </strong>Data from 107 individuals with a median age of 26.7 years (Q1-Q3: 19.0-30.8) were analysed, including 65 women (60.7%). The median duration of T1D was 13 years (Q1-Q3: 10.0-18.0), and the median duration of personal insulin pump use was 8 years (Q1-Q3: 5.0-12.0). The median body mass index was 23.9 kg/m². CGM was used by 52.3% of individuals. The median time in range (TIR) was 57.0% (Q1-Q3: 45.0-69.5%), and the median glycated haemoglobin (HbA1c) level was 7.9% (Q1-Q3: 6.8-8.5%). A positive correlation was found between age and TIR (rs = 0.42, p = 0.001). The use of temporary basal rate and dual-wave and square bolus features was positively correlated with TIR (rs = 0.34, p = 0.012 and rs = 0.31, p = 0.021, respectively) and inversely with time above range > 250 mg/dl (rs = -0.37, p = 0.007 and rs = -0.27, p = 0.045, respectively). Lower HbA1c levels were observed in individuals with a higher number of daily boluses (rs = -0.33, p = 0.001).</p><p><strong>Conclusions: </strong>In the study cohort, older age, more frequent use of advanced insulin pump features, and a higher number of daily boluses were associated with better glycaemic control in adults with T1D.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 1","pages":"1-8"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12051104/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144019934","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":"Autism spectrum disorder and inherited metabolic diseases: are there any common features?","authors":"Patryk Lipiński","doi":"10.5114/pedm.2025.148397","DOIUrl":"https://doi.org/10.5114/pedm.2025.148397","url":null,"abstract":"<p><p>Given the increasing prevalence and knowledge of autism spectrum disorders (ASD) and inherited metabolic diseases (IMD), the aim of this manuscript was to provide practical implications of the molecular (metabolic) diagnostics of ASD and also give the rationale of selective screening of IMD in paediatric patients presenting with autistic features. A wide range of autistic features have been reported in patients with various IMD, including aminoacidopathies, organic acidurias, cerebral creatine deficiencies, and defects of purines and pyrimidines metabolism. A total of 9 cross-sectional studies reporting children diagnosed with ASD, who were subsequently screened for IMD, were identified. There is no cause-effect relationship be-tween autism spectrum disorders and inherited metabolic diseases; however, all neurometabolic diseases presenting with intellectual disability may meet the criteria for ASD diagnosis.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 1","pages":"30-34"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12051103/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144053189","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":"Association of ring chromosome 18 and Prader-Willi syndrome: the first described case report.","authors":"Yousra Laalaoua, Fatimzahra Bentebbaa, Imane Assarrar, Nisrine Bouichrat, Siham Rouf, Hanane Latrech","doi":"10.5114/pedm.2025.148399","DOIUrl":"https://doi.org/10.5114/pedm.2025.148399","url":null,"abstract":"<p><strong>Introduction: </strong>Ring chromosome 18 is a rare chromosomal disorder, and its association with Prader-Willi syndrome (PWS) is an extremely unusual condition. We described the clinical and biological profile of this association and highlighted the management of this case through GH therapy. To the best of our knowledge, this is the first reported association in the literature.</p><p><strong>Case presentation: </strong>This report discusses a case of a 9-year-old child diagnosed with both PWS and ring 18 syndrome at the age of 3 years. The diagnosis of Prader-Willi syndrome with ring chromosome 18 was established using CGH ARRAY technique. It showed the absence of expression of paternal chromosome 15 in the 15q11-q13 region, and a karyotype showing ring chromosome 18 according to the formula: 46. XX (37)/46. XX r(18) (p11.3 ;q23) (27).</p><p><strong>Conclusions: </strong>Our case contributes to a better understanding of the clinical presentation of complex aberrations of chromosome 18 and that of PWS. The main common clinical features of this association were a moderate dysmorphic syndrome, hypotonia, grade II obesity with severe OSA, mild cognitive deficit with learning difficulties, and a discreet scoliosis. Diagnosis and management of this complex disorder require a multidisciplinary approach. The primary focus for those patients is to enhance their quality of life and prevent any potential complications.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 1","pages":"35-40"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12051101/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143990119","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":"Clinical and molecular spectrum of genetic hypertriglyceridaemia in North Indian children: a case series.","authors":"Sayan Banerjee, Arun George, Pamali Mahaswata Nanda, Anju Bala, Inusha Panigrahi, Chennakeshava Thunga, Sadhna Lal, Savita Verma Attri, Jayakanthan Kabeerdoss, Devi Dayal","doi":"10.5114/pedm.2025.148401","DOIUrl":"https://doi.org/10.5114/pedm.2025.148401","url":null,"abstract":"<p><strong>Introduction: </strong>To characterise severe hypertriglyceridaemia (HTG) in Indian children, focusing on clinical and genetic profiles.</p><p><strong>Material and methods: </strong>A retrospective analysis from January 2017 to December 2023 included children up to 14 years old with triglyceride (TG) levels > 500 mg/dl, excluding children with known secondary causes.</p><p><strong>Results: </strong>Among 18 children with severe HTG, 7 had secondary causes. Data from 11 patients (7 boys, median age at diagnosis 0.9 [0.45-2.4] years) revealed presenting features such as lipemic serum (63.3%), failure to thrive (36.3%), loss of subcutaneous fat (18.2%), and abdominal distension (18.2%). Genetic aetiology was identified in 10 cases, with familial chylomicronaemia syndrome (FCS) being the most prevalent (6 cases) caused by the lipoprotein lipase (LPL) and apolipoprotein A-V (APOA5) gene mutations. One each had mutations in the 1-acylglycerol-3-phosphate O-acyltransferase 2 (AGPAT2), lamin A/C (LMNA), glucose-6-phosphatase catalytic subunit (G6PC), and glycerol kinase (GK) genes. FCS patients presented earlier and were resistant to treatment targets, requiring drug therapy. At the final follow-up (mean duration 1.75 ±1.0 years) of 9 patients, the median TG levels for the FCS and non-FCS groups were 1240 (610-1,685) and 412 (247.5-993) mg/dl, respectively. Only 2 patients (40%) with FCS had TG levels < 1000 mg/dl, while all but one (75%) non-FCS subjects had TG levels < 500 mg/dl at the last follow-up. One child developed acute pancreatitis during the said duration.</p><p><strong>Conclusions: </strong>Paediatric HTG is often detected incidentally. Genetic characterisation is crucial for prognosis because baseline TG levels are non-predictive. Drug therapy helps to reach treatment targets in most of the patients.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 1","pages":"25-29"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12051102/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144043139","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":"Systemic consequences of coeliac disease in children with type 1 diabetes - is it worth following a gluten-free diet?","authors":"Karolina Ruszkiewicz, Joanna Nazim","doi":"10.5114/pedm.2024.146861","DOIUrl":"10.5114/pedm.2024.146861","url":null,"abstract":"<p><strong>Introduction: </strong>Coeliac disease (CD) often coexists with type 1 diabetes mellitus (T1D). Children with double diagnosis are frequently asymptomatic, which raises the question of whether to introduce a strict gluten-free diet (GFD) or not.</p><p><strong>Aim of the study: </strong>To summarise data on systemic consequences of coeliac disease in children with type 1 diabetes mellitus.</p><p><strong>Material and methods: </strong>The PubMed database was searched for papers to identify meta-analyses, reviews and clinical trials focusing on children.</p><p><strong>Results: </strong>Coeliac disease, like type 1 diabetes may adversely influence glycaemic control, growth, weight gain, lipid profile and bone health as well as increase the risk of vascular complications. A strict gluten-free diet, at least partly, prevents the development of systemic complications of both disorders.</p><p><strong>Conclusions: </strong>Dietary restrictions do not have a negative impact on the quality of life of young diabetic patients hence a gluten-free diet with its multifaceted beneficial effects should be recommended to all children with diabetes and coeliac disease.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 4","pages":"221-226"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11809550/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143442273","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":"Hereditary vitamin D resistant rickets (HVDRR) case series: phenotype, genotype, conventional treatment, and adjunctive cinacalcet therapy.","authors":"Noman Ahmad, Sundus A Ansari, Nabil A Aleysae, Emily L G Heaphy, Mrouge M Sobaihi, Balgees A Alghamdi, Ali S Alzahrani","doi":"10.5114/pedm.2024.139367","DOIUrl":"10.5114/pedm.2024.139367","url":null,"abstract":"<p><strong>Introduction: </strong>Hereditary vitamin D resistant rickets (HVDRR) is a rare autosomal recessive disorder marked by end-organ resistance of 1,25-dihydroxyvitamin D secondary to various mutations in the vitamin D receptor gene. The currently accepted treatment modality involves bypassing the affected receptors in the gut with high-dose intravenous calcium. In a few limited case reports, cinacalcet, a calcimimetic, has been used as an adjunctive therapy.</p><p><strong>Material and methods: </strong>Retrospective chart reviews were conducted to collect the clinical and biochemical data of 8 patients with HVDRR from 5 Saudi families. Four patients received only high-dose calcium, while the remaining 4 received adjuvant cinacalcet. Serum chemistry and PTH levels were measured before and during cinacalcet treatment. Gene sequencing was performed to identify the disease-causing mutation.</p><p><strong>Results: </strong>All 8 patients exhibited alopecia and secondary hyperparathyroidism. Other clinical and biochemical features of rickets were present to varying degrees. Genetic analysis revealed 3 distinct mutations: a ligand-binding domain mutation in 3 unrelated patients, a ligand-binding domain mutation in 2 sisters, and a missense DNA-binding domain mutation in 3 brothers. While the overall response to therapy was variable, none of the 4 patients who received adjunctive cinacalcet developed hypocalcaemia, and there was some initial promise in improving serum PTH levels.</p><p><strong>Conclusions: </strong>This series provides new insight into the clinical and biochemical characteristics as well as treatment responses in Saudi children with HVDRR. The findings suggest that cinacalcet is a safe and potentially valuable adjuvant in this understudied population; however, further research is required to verify these results.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 2","pages":"74-80"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11249798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724627","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":"Primary response in GHD children treatment as a predictor for long-term therapy effectiveness therapy effectiveness.","authors":"Jan M Kapała, Tomasz Maroszczuk, Aleksandra Sitarz, Anna Kącka, Dorota Charemska","doi":"10.5114/pedm.2024.139270","DOIUrl":"10.5114/pedm.2024.139270","url":null,"abstract":"<p><strong>Introduction: </strong>Short stature in growth hormone deficiency (GHD) can be treated with recombinant human growth hormone (rhGH), which is proven to be both safe and effective. However, a considerable number of patients does not achieve satisfying therapy outcomes.</p><p><strong>Aim of the study: </strong>To evaluate the predictive effect of height increase in the first year of rhGH treatment on long-term therapy outcomes.</p><p><strong>Material and methods: </strong>165 short-stature children (mean age 10.72 ±3.33 years; 63% males), diagnosed with GHD, treated with rhGH for at least one year (mean follow-up 4.32 ±1.80 years), divided into 2 groups according to the change in height standard deviation score (SDS) after the first year of rhGH treatment: good responders (GR) and poor responders (PR). Then, in one-year intervals, patient's chronological age, bone age, height, weight, insulin-like growth factor level, and rhGH dose were all assessed.</p><p><strong>Results: </strong>In the GR group, mean height velocity SDS up to five years of observation was 1.19 ±0.41/year and in the PR group 0.59 ±0.38/year. The differences were statistically significant (p < 0.05).</p><p><strong>Conclusions: </strong>The primary response to the rhGH treatment in GHD children seems to be a good predictor for long-term therapy outcomes.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 2","pages":"61-68"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11249800/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724631","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":"Clinical and molecular characterisation of children with monogenic obesity: a case series.","authors":"Arun George, Santhosh Navi, Pamali Nanda, Roshan Daniel, Kiran Anand, Sayan Banerjee, Inusha Panigrahi, Devi Dayal","doi":"10.5114/pedm.2024.140934","DOIUrl":"10.5114/pedm.2024.140934","url":null,"abstract":"<p><strong>Introduction: </strong>To study the clinical profile and molecular diagnosis of children with severe early-onset non-syndromic monogenic obesity.</p><p><strong>Methods: </strong>The clinical and molecular data (performed using whole exome sequencing) of 7 children with early-onset (< 5 years) non-syndromic monogenic obesity were extracted from the Obesity Clinic files and analysed retrospectively.</p><p><strong>Results: </strong>The median (IQR) age at presentation was 18 (10.5-27) months. Of the 7 patients, 5 were boys, 3 had a history of parental consanguinity, and 4 had a family history of severe early-onset obesity. All patients exhibited hyperphagia and showed signs of insulin resistance. Dyslipidaemia and fatty liver were observed in 4. The variants identified in 6 patients included 2 in leptin receptor, and one each in melanocortin 4 receptor, pro-opiomelanocortin, leptin, and neurotrophic tyrosine kinase receptor type 2 genes. Notably, 4 of these variants were novel.</p><p><strong>Conclusions: </strong>This case series provides valuable insights into the spectrum of genetic mutations associated with non-syndromic monogenic obesity in North Indian children. The findings underscore the significance of next-generation sequencing in identifying the aetiology of severe early-onset obesity.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"30 2","pages":"104-109"},"PeriodicalIF":0.0,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11249795/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141724697","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}