Pediatric Endocrinology, Diabetes and Metabolism最新文献

{"title":"Hypoglycemic effects of Caesalpinia bonduc (L). Roxb leaf extract in streptozotocin-induced diabetic rats.","authors":"Ami Febriza, Anisah Zahrah, Nurul Andini, Fityatun Usman","doi":"10.5114/pedm.2025.158548","DOIUrl":"10.5114/pedm.2025.158548","url":null,"abstract":"<p><strong>Introduction: </strong>Diabetes mellitus remains a critical global health challenge, necessitating effective therapeutic interventions.</p><p><strong>Aim: </strong>This study evaluated the hypoglycemic and pancreatic protective effects of Caesalpinia bonduc leaf extract in streptozotocin-induced diabetic rats.</p><p><strong>Material and methods: </strong>Twenty-five diabetic rats were randomly assigned to treatment groups receiving 150, 200, and 400 mg/kg leaf extract, glibenclamide (positive control), and placebo for two weeks. Blood glucose levels were measured at baseline, after STZ induction, and at 0, 2, 4, 6, and 24 hours after treatment. Histological assessments of pancreatic tissue were performed, and phytochemical screening identified flavonoids, tannins, and saponins.</p><p><strong>Results: </strong>The extract significantly reduced blood glucose levels, with the 150, 200, and 400 mg/kg doses lowering glucose from baseline averages of 237.40 ±7.81 mg/dl, 324.00 ±42.26 mg/dl, and 336.00 ±23.34 mg/dl to 103.00 ±4.60 mg/dl, 199.40 ±67.73 mg/dl, and 116.20 ±8.65 mg/dl, respectively, at 6 hours after treatment. Histopathological improvements included reduced necrosis, inflammation, and improved pancreatic morphology.</p><p><strong>Conclusions: </strong>These findings underscore the extract's dual mechanisms of action - antioxidant protection and insulin secretion enhancement - likely driven by flavonoids. The robust hypoglycemic response and pancreatic tissue protection provided by C. bonduc leaf extracts highlight their potential as valuable adjuncts in diabetes therapy. Further clinical evaluations and mechanistic studies are necessary to substantiate their clinical applicability.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 4","pages":"176-186"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12928146/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146203209","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":"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":"Complications of obesity in children and youths with type 1 diabetes mellitus.","authors":"Anna Kącka-Stańczak, Anna Charemska-Ronchini, Emilia Odyjewska, Elżbieta Jarocka-Cyrta, Barbara Głowińska-Olszewska","doi":"10.5114/pedm.2025.152594","DOIUrl":"10.5114/pedm.2025.152594","url":null,"abstract":"<p><strong>Introduction: </strong>Excess body weight has a negative impact on the management of type 1 diabetes (T1D) and is an additional risk factor for the development of chronic vascular complications, insulin resistance and metabolic dysfunction-associated fatty liver disease (MAFLD). We compared and analyzed metabolic control, the incidence of insulin resistance and MAFLD in children and youths with T1D and excessive body weight (T1D-E) and those with T1D and normal body weight (T1D-N).</p><p><strong>Material and methods: </strong>The study included 32 patients with T1D-N and 31 patients with T1D-E. Daily insulin requirement, estimated glucose disposal rate (eGDR1, eGDR2), HbA1C%, lipid profile, vitamin D level, cIMT value, and MAFLD prevalence were compared in relation to body mass index (BMI) and BMI SD score (BMI-SDS).</p><p><strong>Results: </strong>T1D-E patients compared to T1D-N had higher systolic (125.58 ±8.18 vs. 120.16 ±10.02 mmHg, p = 0.022) and diastolic blood pressure (78.19 ±7.03 vs. 73.94 ±7.95 mmHg, p = 0.028), triglyceride levels (118.19 ±71.20 vs. 71.31 ±18.76 mg/dl, p = 0.001) and waist circumference (p < 0.001). Lower eGDR values were noted in T1D-E vs. T1D-N: eGDR1: 5.16 ±1.33 vs. 6.96 ±1.32; eGDR2: 9.37 ±1.21 vs. 10.66 ±0.9 (p = 0.0001, p = 0.0001). Vitamin D levels were lower and the incidence of MAFLD was higher in the T1D-E group (13% vs. 0%, p = 0.014). Patients with MAFLD had worse lipid profile results and higher cIMT values (0.48 vs. 0.43 mm, p = 0.4).</p><p><strong>Conclusions: </strong>Excessive body weight in patients with T1D leads to elevated blood pressure, dyslipidemia, and insulin resistance, and increases the risk of MAFLD. Patients with MAFLD have a higher future cardiovascular risk, expressed as an increased cIMT value.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 2","pages":"44-51"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12302945/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144776454","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":"Spontaneous final adult height in patients with idiopathic short stature.","authors":"Magdalena Banaszak-Ziemska, Karolina Grochowska, Marek Niedziela","doi":"10.5114/pedm.2025.158550","DOIUrl":"10.5114/pedm.2025.158550","url":null,"abstract":"<p><strong>Introduction: </strong>Idiopathic short stature (ISS) is defined as a height more than two standard deviations (SD) below the mean for age and sex for population group without evidence of a systemic, endocrine, nutritional, or genetically determined disorder. The study aimed to analyze the final height (FH) in a group of patients with ISS.</p><p><strong>Material and methods: </strong>The inclusion criteria were as follows: • height < -2 SD or difference between height and target height (TH) calculated based on parents' height more than -1 SD; • growth hormone secretion above 10 ng/ml in stimulation tests or after falling asleep; • absence of chronic diseases that could be the cause of short stature; • Turner syndrome excluded, and lack of signs suggesting other genetically determined disorders. We evaluated the auxological data of 16 patients among 22 patients with ISS (13 girls and 3 boys) who completed the growth process.</p><p><strong>Results: </strong>The mean FH in the study group was 150.9 cm, the mean FH SDS was -2.85. Statistical analysis revealed a positive correlation between FH and predicted adult height based on prepubertal bone age (r = 0.905, p < 0.001) and a second evaluation of bone age (r = 0.780, p = 0.13). Statistical analysis revealed a positive correlation between FH SDS and height SD score (height SDS) at the age of 4 and 6 years (r = 0.749, p = 0.033 and r = 0.946, p < 0.001).</p><p><strong>Conclusions: </strong>Predicted adult height on prepubertal bone age and the height standard deviation score at the age of 4 years and 6 years can help estimate final height in a group of patients with idiopathic short stature.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 4","pages":"155-160"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12928132/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146203228","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":"Uric acid and unhealthy metabolic phenotype in Colombian children.","authors":"Gina Gonzalez-Valencia, Johana Hernandez, Silvia Rueda, Nora Espinosa, Adriana Forero, Jose Balmaceda, Juan Gualdron, Juan Gaviria, Maria Montilla, Juan Velasquez","doi":"10.5114/pedm.2025.158545","DOIUrl":"10.5114/pedm.2025.158545","url":null,"abstract":"<p><strong>Introduction: </strong>Overweight and obesity are an increasing public health problems in children. Currently, attempts are being made to identify differential markers between metabolically healthy individuals (MHO) and metabolically unhealthy children (MUHO). This study aimed to evaluate the differences in uric acid (UA) levels in children with overweight or obesity classified according to their metabolic phenotype using the 2018 Damanhoury criteria.</p><p><strong>Material and methods: </strong>Retrospective cross-sectional study, included children aged 5-18 years who were evaluated at a pediatric endocrinology outpatient clinic. Eighty patients were evaluated; 36 were classified as MHO and 44 as MUHO according to the levels of triglycerides (TG), glucose, high-density lipoprotein cholesterol (HDL-C) and blood pressure. The mean difference in uric acid levels was evaluated using Student's t-test. In addition, three insulin resistance index and their possible relationships with UA levels were analyzed.</p><p><strong>Results: </strong>The mean age was 11.6 years (SD 3.2 years). Uric acid levels showed a statistically significant difference between the MUHO group (mean 5.4 mg/dl -1.3 SD) and the MHO group (mean 4.5 mg/dl -1.4 SD) (p = 0.0069). A moderate positive correlation was found between uric acid levels and TyG ratio (correlation 0.4137) and TG/HDL index (0.3813).</p><p><strong>Conclusions: </strong>Uric acid levels were higher in MUHO patients and correlated with insulin resistance indexes. These findings could be used as metabolic risk markers for the evaluation of children with overweight/obesity.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 4","pages":"169-175"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12928131/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146203246","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":"Impact of fig leaf extract (Ficus carica L.) on GLUT-2 expression in pancreatic b cells and hepatic cells of Wistar rats induced by streptozotocin-nicotinamide.","authors":"Ariyandy Andi, Febriza Ami, Yuliza P Fika, Aswad Muhammad, Anggita Dwi, Supriadi Triandini, Fitriyah N R Dina, Wahid Isra, Idris Irfan","doi":"10.5114/pedm.2025.153732","DOIUrl":"10.5114/pedm.2025.153732","url":null,"abstract":"<p><strong>Introduction: </strong>Type 2 diabetes mellitus (T2DM) is a metabolic disorder marked by hyperglycemia due to impaired carbohydrate metabolism. GLUT-2 , a key glucose transporter, regulates glucose homeostasis and insulin secretion. Medicinal plants, such as fig leaves ( Ficus carica L .), have shown potential as antidiabetic agents.</p><p><strong>Aim of the study: </strong>To evaluate the effect of fig leaf extract on GLUT-2 expression in pancreatic β and hepatic cells, as well as fasting blood glucose (FBG) levels in Wistar rats induced with streptozotocin and nicotinamide (STZ-NA).</p><p><strong>Material and methods: </strong>Thirty-six male Wistar rats were divided into six groups. Treatment groups received fig leaf extract at doses of 300, 500, and 700 mg/kg body weight for a period of two weeks. A glimepiride-treated group served as the positive control. Fasting blood glucose levels were measured before and after treatment. GLUT-2 expression was assessed using ELISA.</p><p><strong>Results: </strong>Fig leaf extract significantly reduced FBG levels and increased GLUT-2 expression in both pancreatic and hepatic cells. However, these effects were not statistically significant when compared to the control group. Higher extract doses showed greater trends toward glycemic improvement.</p><p><strong>Conclusions: </strong>Fig leaf extract may have beneficial effects in lowering FBG and enhancing GLUT-2 expression in STZ-NA-induced diabetic rats. The data on glucose levels suggest a statistically insignificant trend toward decreased glucose levels. Although the observed improvements were not statistically significant, the trends suggest potential antidiabetic activity, particularly at higher doses. The lack of significance may be attributed to the dosage of the extract used in this study.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 3","pages":"97-103"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12612574/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145507350","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":"The effect of insulin on the central nervous system: insights into neurological complications and management of type 1 diabetes in the pediatric population.","authors":"Łukasz Świątek, Jan Jeske, Miłosz Miedziaszczyk, Ilona Idasiak-Piechocka, Paulina Wais","doi":"10.5114/pedm.2025.152597","DOIUrl":"10.5114/pedm.2025.152597","url":null,"abstract":"<p><strong>Introduction: </strong>Insulin is primarily known for its role in glucose homeostasis regulation. Since the discovery that insulin crosses the blood-brain barrier (BBB) in the year 1954, the influence of insulin on the central nervous system (CNS) has been under continuous research.</p><p><strong>Aim of the study: </strong>The aim of this paper is to review the current knowledge about the effects of insulin on CNS function in the pediatric population with special attention to diabetes type 1.</p><p><strong>Material and methods: </strong>The PubMed and Cochrane search engines were used in the data searching process.</p><p><strong>Conclusions: </strong>Recent studies have shown that insulin has substantial glycemic and non-glycemic effects on the human brain. In pediatric populations, insulin's non-glycemic effects on CNS function are of particular interest due to the critical role of insulin in brain development, cognitive maturation, and learning. Therefore, children and adolescents with diabetes type 1 (T1DM), resulting in insulin deficiency and dysregulated glucose metabolism, require special attention.</p><p><strong>Conclusions: </strong>While insulin therapy is essential for glycemic control in pediatric patients with T1DM, researchers suggest that insulin also has a crucial effect on the central nervous system (CNS), which may have implications for neurodevelopment and cognitive function in this group of patients.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 2","pages":"68-74"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12302944/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144776458","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":"Personalization of continuous glucose monitoring system for diabetic patients in the Polish market in 2024.","authors":"Martyna R Gąsiorek, Marcin D Niedziela, Przemysława Jarosz-Chobot","doi":"10.5114/pedm.2025.152598","DOIUrl":"10.5114/pedm.2025.152598","url":null,"abstract":"<p><p>Continuous glucose monitoring (CGM) systems have revolutionized diabetes management by providing real-time glycemic data, improving control, and reducing the risk of both acute and chronic complications. With an increasing range of CGM systems available on the market, selecting the most appropriate system has become a challenge for both patients and healthcare professionals. This narrative review aims to analyze the available CGM systems and identify the factors that influence the personalized selection of a CGM system for patients with diabetes, based on system functions and features. Factors influencing CGM choice are discussed, including patient age, fear of puncture, physical activity, aesthetics, and financial considerations.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 2","pages":"75-79"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12302947/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144776456","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":"Dysmorphic syndromes with overgrowth - systematic review.  Part 1 - monogenic syndromes.","authors":"Julia Gąsiorowska, Amelia Grundys, Laura Gawlik, Weronika Dziamara, Robert Śmigiel, Beata Wikiera","doi":"10.5114/pedm.2025.158547","DOIUrl":"10.5114/pedm.2025.158547","url":null,"abstract":"<p><strong>Introduction: </strong>Excessive growth syndromes are a heterogeneous group of rare congenital disorders characterized by increased body size from the neonatal period or early childhood. In addition to accelerated growth, these conditions frequently co-occur with dysmorphic features and other medical problems, including intellectual disability, organ defects, and an increased risk of cancer. The objective of this study is to present a comprehensive overview of selected dysmorphic syndromes associated with excessive growth, with particular emphasis on syndromes with confirmed or strongly suspected monogenic etiology. The following aspects are discussed in this text: the pathogenesis of the condition, its inheritance, the characteristic clinical symptoms, the diagnostic approach, and the potential treatment options.</p><p><strong>Material and methods: </strong>A comprehensive analysis of data pertaining to syndromes of excessive growth, accompanied by either a recognized or postulated monogenic basis, was conducted based on scientific literature. A particular emphasis was placed on the examination of endocrinological, oncological, and prognostic aspects. The usefulness of genetic testing in the diagnostic process was also evaluated.</p><p><strong>Results: </strong>A number of excessive growth syndromes were identified, including Sotos syndrome, Beckwith-Wiedemann syndrome, Simpson-Golabi-Behmel syndrome, Bannayan-Riley-Ruvalcaba syndrome, Marshall-Smith syndrome, Weaver syndrome, Nevo syndrome, and Elejalde syndrome. Clinical symptoms, prevalence of endocrine disorders, and risk of developing cancer were meticulously documented. Following a thorough analysis, a set of diagnostic schemes and indications for monitoring selected complications were proposed.</p><p><strong>Conclusions: </strong>The diagnosis of overgrowth syndromes is a complex process that requires a meticulous clinical evaluation and the application of contemporary genetic methodologies. Early identification of characteristic phenotypic and molecular features facilitates prompt implementation of appropriate treatment and monitoring of complications. The adaptation of therapeutic strategies to a specific syndrome and patient is pivotal to improving prognosis.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 4","pages":"195-203"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12928135/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146203225","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}