Pediatric Endocrinology, Diabetes and Metabolism最新文献

{"title":"Fertility preservation methods in children with the risk of female hypogonadism - possibilities and limitations.","authors":"Małgorzata E Żarczyńska, Aneta Gawlik-Starzyk","doi":"10.5114/pedm.2025.155105","DOIUrl":"10.5114/pedm.2025.155105","url":null,"abstract":"<p><p>Cancer diseases and their treatment, genetic diseases, metabolic and autoimmune disorders, hormonal treatment of transgender people with assigned female sex can lead to early female hypogonadism and ultimately to infertility. Diagnosis of hypothalamic-pituitary-ovarian axis failure is based on hormonal tests (anti-Müllerian hormone, follicle-stimulating hormone, luteinizing hormone, sex hormones) and imaging studies (ultrasound, magnetic resonance imaging), but methods for predicting the loss of gonadal function require further refinement. From the patient's perspective, it is important to ensure the possibility of preserving material for use in possible future assisted reproduction procedures. Currently, the only technique that works well in prepubertal girls is ovarian tissue cryopreservation (OTC). The aim of this work is to analyze current methods of preserving fertility in girls and adolescents, their indications, limitations and directions of development. A review of the literature was done using the following keywords: children, adolescents, fertility preservation and studies published between 2020 and 2025. Included were meta-analyses, clinical trials, and systematic reviews. The most advanced method for girls remains OTC, with over 200 documented births, including after prepubertal procedures. Gonadal reserve assessment is based on hormonal tests and imaging. Fertility preservation in children requires an interdisciplinary approach, early diagnosis, and further development of techniques. Establishing standardized procedures and ensuring equal access to care are essential.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 3","pages":"127-132"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12612581/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145507342","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":"Long-term effects of growth hormone on body composition and metabolic  parameters in girls with Turner syndrome.","authors":"Ewa Błaszczyk, Anna-Mariia Shulhai, Joanna Gieburowska, Aneta Gawlik-Starzyk","doi":"10.5114/pedm.2025.158549","DOIUrl":"10.5114/pedm.2025.158549","url":null,"abstract":"<p><strong>Introduction: </strong>Patients with Turner syndrome (TS) are at increased risk of metabolic complications, partly as a consequence of truncal obesity, which can already appear in childhood. Growth hormone (GH) therapy is widely used in this population and is known to exert a beneficial effect on body composition (BC). The study aims to evaluate the impact of GH therapy on BC and explore associations between BC parameters and components of metabolic syndrome in girls with TS during a 5-year follow-up.</p><p><strong>Material and methods: </strong>Twenty-one TS patients were enrolled. Auxological, BC, and biochemical parameters were assessed at baseline (V1), after 3 years (V3), and after 5 years (V5) of GH therapy. Results were available for 21, 20, and 13 patients, respectively. Biochemical phenotypes were determined using carbohydrate and lipid parameters.</p><p><strong>Results: </strong>The only BC parameter that significantly increased during GH therapy was fat-free mass (FFM). Along with rising insulin-like growth factor 1 levels, fasting and postprandial insulin concentrations, as well as insulin resistance, increased during treatment. Total cholesterol decreased, although without significant changes in its fractions. No significant correlations were found between BC parameters, glucose, and total cholesterol during the GH 5-year follow-up.</p><p><strong>Conclusions: </strong>Growth hormone therapy exerts a beneficial effect on BC in girls with TS, reflected by an increase in FFM. However, carbohydrate metabolism should be closely monitored, in line with national program requirements, due to the increased insulin resistance during GH therapy. Lifestyle recommendations promoting healthy behaviors should be provided to all patients with TS.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 4","pages":"161-168"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12928133/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146203293","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":"From growth hormone deficiency to Kleefstra-2 syndrome: diagnostic  reassessment of treatment-refractory short stature.","authors":"Azzeddine Laaraje, Khadija Abassi, Abdelilah Radi, Rachid Abilkassem","doi":"10.5114/pedm.2025.158552","DOIUrl":"10.5114/pedm.2025.158552","url":null,"abstract":"<p><p>We report a 12-year-old girl with developmental delay, dysmorphic features, and short stature initially diagnosed with growth hormone deficiency at age 7. Despite appropriate growth hormone treatment for four years with documented insulin-like growth factor-1 (IGF-1) normalization (64→241.7 ng/ml), growth velocity remained suboptimal (5-6 cm/year vs. expected 7-8 cm/year). Clinical examination revealed triangular facies, hypertelorism, gingival hyperplasia, moderate intellectual disability, and delayed language development (first words at 3 years). Whole exome sequencing identified a novel de novo heterozygous KMT2C mutation (c.7444_7445insCC, p.Phe2482Serfs*34), confirming Kleefstra-2 syndrome diagnosis. Treatment resistance despite a biochemical response suggests possible post-receptor IGF-1 resistance, potentially related to epigenetic dysregulation. This represents the first documented case of growth hormone deficiency with detailed endocrine characterization in Kleefstra-2 syndrome, expanding the phenotypic spectrum and highlighting the importance of considering genetic syndromes in treatment-refractory short stature.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 4","pages":"209-214"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12928140/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146203253","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":"Depressive and anxiety disorders in children and adolescents with selected endocrine diseases.","authors":"Dawid Goncerz, Małgorzata Wójcik","doi":"10.5114/pedm.2025.155107","DOIUrl":"10.5114/pedm.2025.155107","url":null,"abstract":"<p><p>Depressive and anxiety disorders are among the most common mental health issues in children and adolescents, significantly affecting psychosocial development, school functioning, and quality of life. Patients with chronic endocrine conditions are considered a particularly vulnerable group. The aim of this study was to review the prevalence and characteristics of depressive and anxiety symptoms among pediatric patients with selected endocrine disorders: growth hormone deficiency (GHD), congenital adrenal hyperplasia (CAH), Graves' disease (GD), Hashimoto's thyroiditis, and central precocious puberty (CPP). A search of the PubMed database was conducted in March and April 2025 for original studies published within the last 10 years, focusing on patients aged 0-18 with the listed conditions. Fourteen studies meeting inclusion criteria were analyzed. A standardized search strategy combining Medical Subject Headings (MeSH) and free-text terms was used, and data were extracted regarding methodology, diagnostic tools, and key outcomes. Children with GHD, CAH, GD, Hashimoto's disease, and CPP had a significantly higher prevalence of depressive and/or anxiety symptoms. In some cases, symptom severity correlated with hormonal parameters (e.g., TRAb, anti-TPO). Most studies were limited by small sample sizes and heterogeneous assessment tools. Pediatric patients with endocrine disorders are at increased risk for anxiety and depressive disorders. Multicenter prospective studies using validated instruments are urgently needed. Integration of psychological assessment into endocrine care should be considered standard.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 3","pages":"120-126"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12612573/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145507287","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":"Fermented means beneficial - fermented foods as support for the metabolism of children and adolescents?","authors":"Joanna Kolniak-Ostek","doi":"10.5114/pedm.2025.152593","DOIUrl":"10.5114/pedm.2025.152593","url":null,"abstract":"","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 2","pages":"41-43"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12302948/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144776455","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":"Changes in the clinical picture of type 1 diabetes in children at diagnosis: past hopelessness in face of diabetic ketoacidosis vs. current hope for prevention and cure in the early stages of diabetes with developing treatment possibilities.","authors":"Milena Jamiołkowska-Sztabkowska, Artur Bossowski","doi":"10.5114/pedm.2025.155111","DOIUrl":"10.5114/pedm.2025.155111","url":null,"abstract":"","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 3","pages":"81-82"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12612575/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145507314","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":"Auxological parameters associated with the diagnosis of growth hormone deficiency in children with short stature.","authors":"Joanna Smyczyńska, Maciej Hilczer, Renata Stawerska","doi":"10.5114/pedm.2025.155108","DOIUrl":"10.5114/pedm.2025.155108","url":null,"abstract":"<p><strong>Introduction: </strong>Diagnosis of growth hormone (GH) deficiency (GHD) requires confirmation by decreased GH peak in stimulation test (GHST). Despite physiological changes in GH secretion, the same cut-off for GH peak in different GHST is recommended throughout childhood. There are also reports indicating a high rate of false positive GHST results. The aim of the study was to identify auxological parameters relevant for the diagnosis of GHD based on the results of GHST in children with short stature.</p><p><strong>Material and methods: </strong>Analysis included 1,592 children with short stature, in whom height, weight, body mass index (BMI), GH peak in two GHST and bone age (BA) were assessed. Diagnosis of GHD was based on GH peak in two GHST below 10.0 µg/l, otherwise the diagnosis was idiopathic short stature (ISS).</p><p><strong>Results: </strong>Growth hormone deficiency was diagnosed in 604 patients (37.9%). There was no difference between GHD and ISS Groups in age, height and BA, while children with GHD had significantly lower (p < 0.001) BMI. The incidence of GHD depended on age, BA, height and BMI. After classifying the patients with respect to nutritional status (BMI SDS), GH peak was the lowest in children with overnutrition, while the highest in ones with undernutrition.</p><p><strong>Conclusions: </strong>The assumption of the same cut-off value of GH peak for all GHST performed in children should be modified. Interpretation of GHST should be personalized.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 3","pages":"104-112"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12612577/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145507358","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":"New directions in growth hormone treatment in children.","authors":"Renata Stawerska","doi":"10.5114/pedm.2025.158544","DOIUrl":"10.5114/pedm.2025.158544","url":null,"abstract":"<p><p>This paper reviews clinical-trial evidence on the use of long-acting growth hormone (LAGH) preparations in children. Three LAGH products have been approved in Europe and the United States for paediatric growth hormone deficiency (GHD): lonapegsomatropin, somapacitan, and somatrogon. Ongoing clinical programmes are evaluating these agents in other causes of short stature that may warrant growth hormone therapy, including Turner syndrome, Noonan syndrome, children born small for gestational age (SGA)/with intrauterine growth restriction (IUGR), idiopathic short stature (ISS), SHOX gene variants, and achondroplasia; the present article summarises the design assumptions of these trials. In addition, the paper discusses the potential role of LAGH in patients with persistent GHD after completion of linear growth, i.e. those transitioning into adulthood and requiring ongoing replacement therapy. Finally, preliminary data are presented on the use of an oral growth hormone secretagogue, ibutamoren, in children with partial GH deficiency.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"31 4","pages":"143-154"},"PeriodicalIF":0.0,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12928143/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146203218","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}