Pediatric Endocrinology, Diabetes and Metabolism最新文献

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Graves' disease and autoimmune hepatitis overlap syndrome with coincidental simultaneous presentation in a pediatric patient. 小儿格雷夫斯病和自身免疫性肝炎重叠综合征同时出现。
Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2026-01-01 DOI: 10.5114/pedm.2026.160225
Grażyna Waśka, Katarzyna Gołąb-Jenerał, Katarzyna Górowska-Kowolik, Małgorzata Stojewska, Agnieszka Zachurzok
{"title":"Graves' disease and autoimmune hepatitis overlap syndrome with coincidental simultaneous presentation in a pediatric patient.","authors":"Grażyna Waśka, Katarzyna Gołąb-Jenerał, Katarzyna Górowska-Kowolik, Małgorzata Stojewska, Agnieszka Zachurzok","doi":"10.5114/pedm.2026.160225","DOIUrl":"10.5114/pedm.2026.160225","url":null,"abstract":"<p><strong>Introduction: </strong>Graves' disease (GD) and autoimmune hepatitis (AIH) represent distinct autoimmune disorders affecting the thyroid and liver, respectively.</p><p><strong>Case presentation: </strong>This report discusses a case of a 13-year-old boy with rare coexistence of GD and AIH. The patient was admitted to the Department of Pediatric Endocrinology, presenting with suspected hyperthyroidism. Clinical manifestations included ocular exophthalmos, tachycardia, reduced exercise tolerance, and motor restlessness. Initial laboratory assessments revealed mildly elevated transaminases, prompting further investigation. A primary diagnosis of GD was confirmed by relevant laboratory parameters. Antithyroid drugs (ATD) were administered, resulting in proper control of thyroid dysfunction. However, despite the gradual reduction of ATD, a further increase in hepatic biomarkers was observed and required a comprehensive diagnostic investigation, culminating in a liver biopsy. The findings of the biopsy yielded a definitive diagnosis of AIH.</p><p><strong>Conclusions: </strong>In pediatric patients presenting with GD-associated liver dysfunction, AIH should be considered as a potential comorbidity, warranting vigilance in patients with hyperthyroidism and elevated transaminase levels.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"32 1","pages":"71-76"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13153754/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147784283","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}
引用次数: 0
Recombinant growth hormone therapy in a patient with brachydactyly: case report with literature review. 重组生长激素治疗短指1例并文献复习。
Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2026-01-01 DOI: 10.5114/pedm.2026.161125
Michał Erazmus, Ewa Witkowska, Dorota Czapczak, Ewelina Witkowska, Beata Pyrżak
{"title":"Recombinant growth hormone therapy in a patient with brachydactyly: case report with literature review.","authors":"Michał Erazmus, Ewa Witkowska, Dorota Czapczak, Ewelina Witkowska, Beata Pyrżak","doi":"10.5114/pedm.2026.161125","DOIUrl":"10.5114/pedm.2026.161125","url":null,"abstract":"<p><p>Brachydactyly is a very rare congenital defect involving shortened fingers and/or toes. It can be a component of congenital or genetic syndromes, but it can also occur as an isolated defect, most often inherited in an autosomal dominant pattern. The current classification includes five main types of the disease (A-E) depending on the characteristic constellation of affected fingers and bones. According to the literature, some types may also be associated with height deficiency. To our best knowledge, this article is the first documented example of the effects of recombinant human growth hormone (rhGH) therapy on a child with short stature and brachydactyly type C with normal growth hormone secretion in stimulation tests. In this paper, we present the boy's good response to the treatment and the safety of this therapy, as well as a review of the current literature regarding rhGH therapy in children with isolated brachydactyly.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"32 2","pages":"150-157"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13448223/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148907706","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}
引用次数: 0
Refractory hypoparathyroidism in paediatric autoimmune polyglandular syndrome type 1: successful long-term use of teriparatide. 顽固性甲状旁腺功能减退症患儿自身免疫性多腺综合征1型:长期成功使用特立帕肽
Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2026-01-01 DOI: 10.5114/pedm.2026.163483
Carolina Perez, Nicolas Adarme, Catalina Hernandez, Maria Paula Sarmiento
{"title":"Refractory hypoparathyroidism in paediatric autoimmune polyglandular syndrome type 1: successful long-term use of teriparatide.","authors":"Carolina Perez, Nicolas Adarme, Catalina Hernandez, Maria Paula Sarmiento","doi":"10.5114/pedm.2026.163483","DOIUrl":"10.5114/pedm.2026.163483","url":null,"abstract":"<p><p>Autoimmune polyglandular syndrome type 1 (APS-1) is a rare monogenic disorder caused by pathogenic variants in the autoimmune regulator (AIRE) gene. It typically manifests in childhood with at least two features of the classic triad: chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. We present the case of an 11-year-old girl from a consanguineous family, with severe hypocalcaemia and chronic oral candidiasis. Despite high-dose calcium and calcitriol therapy, she experienced recurrent symptomatic hypocalcaemia requiring multiple hospitalisations. Genetic testing confirmed homozygosity for the pathogenic AIRE variant c.967_979del, establishing the diagnosis of APS-1. Due to poor biochemical control, teriparatide (parathyroid hormone, PTH [1-34]) was initiated at 20 g twice daily, leading to rapid improvement in calcium-phosphate homeostasis, a 75% reduction in oral calcium requirements, and no further hospitalisations over a two-year period. The therapy was well tolerated with no adverse events. This is the first paediatric case reported in Colombia using recombinant PTH (1-34) for APS-1-related hypoparathyroidism, supporting its therapeutic role in refractory cases.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"32 3","pages":"223-229"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13628193/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149231277","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}
引用次数: 0
Distinguishing clinical features of paediatric autoimmune Addison's disease and polyendocrine syndromes: a 15-year single-centre observational study from Baghdad, Iraq. 区分儿童自身免疫性阿狄森病和多内分泌综合征的临床特征:一项来自伊拉克巴格达的15年单中心观察研究
Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2026-01-01 DOI: 10.5114/pedm.2026.162372
Muneera Fadhil Ridha, Bayar Abdullah Ahmed, Wassan Nori
{"title":"Distinguishing clinical features of paediatric autoimmune Addison's disease and polyendocrine syndromes: a 15-year single-centre observational study from Baghdad, Iraq.","authors":"Muneera Fadhil Ridha, Bayar Abdullah Ahmed, Wassan Nori","doi":"10.5114/pedm.2026.162372","DOIUrl":"10.5114/pedm.2026.162372","url":null,"abstract":"<p><strong>Introduction: </strong>Autoimmune Addison's disease (AAD) is a rare endocrine disorder characterised by immune-mediated destruction of the adrenal cortex. AAD may occur in isolation or as part of a broader autoimmune polyendocrine syndrome (APS). Distinguishing the two is essential owing to implications for patient screening and prognosis. Earlier identification of APS patients is crucial for preserving residual adrenal function and developing future targeted therapies. This study aimed to define clinical and laboratory features of paediatric isolated AAD and APS.</p><p><strong>Material and methods: </strong>This retrospective cohort study recruited 55 paediatric patients; 27/55 had isolated AAD and 28/55 had APS. They were followed at the Children's Welfare Teaching Hospital, Baghdad, Iraq, between 2009 and 2024. Data collected and compared included: demographic variables (age, gender, family history, duration of symptoms), presenting clinical features and adrenal crisis, and laboratory parameters.</p><p><strong>Results: </strong>Male predominance was observed in both groups, although the difference was not significant. Positive family history was more frequent in APS (p = 0.03). Clinically, hyperpigmentation, weight loss, poor appetite, and hypoglycaemia-induced seizures were significantly higher in isolated AAD (p = 0.0001, 0.0002, 0.042, 0.041). Adrenal crises were more frequent in APS cases (p = 0.18). Major risk factors for adrenal crisis included poor treatment compliance and infections. Laboratory parameters showed that hyperkalaemia and hypoglycaemia were significantly more pronounced in AAD (0.0079 and 0.00002).</p><p><strong>Conclusions: </strong>Distinguishing isolated AAD from APS may be clinically useful. Differences were observed in metabolic severity, family history, weight loss, hyperpigmentation, and risk of adrenal crisis. These findings suggest that management of both conditions may benefit from a tailored approach, emphasizing treatment adherence and infection prevention in both groups.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"32 2","pages":"107-114"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13448221/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148907548","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}
引用次数: 0
Maternal polycystic ovary syndrome and the risk of neurodevelopmental disorders in preterm neonates. 母体多囊卵巢综合征与早产儿神经发育障碍的风险。
Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2026-01-01 DOI: 10.5114/pedm.2026.161348
Noorjan Muhammed, Mufeed Taha, Esraa Mohammed, Wassan Nori
{"title":"Maternal polycystic ovary syndrome and the risk of neurodevelopmental disorders in preterm neonates.","authors":"Noorjan Muhammed, Mufeed Taha, Esraa Mohammed, Wassan Nori","doi":"10.5114/pedm.2026.161348","DOIUrl":"10.5114/pedm.2026.161348","url":null,"abstract":"<p><strong>Introduction: </strong>Polycystic ovary syndrome (PCOS) is a common endocrine disorder associated with increased obstetric complications. However, its impact on the neurodevelopment of preterm neonates remains underexplored, particularly in low-resource settings. The study aimed to assess the association between maternal PCOS and the risk of neurodevelopmental disorders in preterm neonates.</p><p><strong>Material and methods: </strong>A prospective case-control study was conducted at Azadi Teaching Hospital, Kirkuk, Iraq, from June 2023 to June 2025. A total of 200 women with preterm labor were enrolled and divided into two groups - Group A (PCOS, n = 100) and Group B (non-PCOS, n = 100) - based on the Rotterdam criteria. Neonatal outcomes - including gestational age, birth weight, Apgar scores, neonatal intensive care unit (NICU) stay, intraventricular hemorrhage (IVH), periventricular leukomalacia, seizures, and neurodevelopment - were assessed. Neurodevelopmental evaluation was performed at 6, 12, and 24 months using the Denver II screening test. Logistic regression was used to identify predictors of developmental delay.</p><p><strong>Results: </strong>Neonates born to mothers with PCOS had significantly lower birth weights, longer NICU stays, higher rates of IVH and seizures, and lower Apgar scores. Developmental delays - particularly in fine motor, language, and gross motor domains - were significantly more prevalent in the PCOS group (p < 0.001). Logistic regression identified maternal PCOS, NICU stay, Homeostatic Model Assessment for Insulin Resistance, IVH, and 1-minute Apgar score as independent predictors of neurodevelopmental delay.</p><p><strong>Conclusions: </strong>Maternal PCOS is associated with an increased risk of neurodevelopmental disorders in preterm neonates. Targeted screening and follow-up are necessary for women at high risk.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"32 2","pages":"115-120"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13448225/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148907557","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}
引用次数: 0
Comparison of somatic development, nutritional status, control of disease, and frequency of autoimmune comorbidities in Polish and Ukrainian children with type 1 diabetes. 波兰和乌克兰1型糖尿病儿童的躯体发育、营养状况、疾病控制和自身免疫性合并症发生率的比较
Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2026-01-01 DOI: 10.5114/pedm.2026.162373
Joanna Smyczyńska, Beata Mianowska, Iwona Pietrzak, Aleksandra Olejniczak, Michał Suchowiński, Kacper Kopeć, Przemysław Seliga, Urszula Smyczyńska, Agnieszka Szadkowska
{"title":"Comparison of somatic development, nutritional status, control of disease, and frequency of autoimmune comorbidities in Polish and Ukrainian children with type 1 diabetes.","authors":"Joanna Smyczyńska, Beata Mianowska, Iwona Pietrzak, Aleksandra Olejniczak, Michał Suchowiński, Kacper Kopeć, Przemysław Seliga, Urszula Smyczyńska, Agnieszka Szadkowska","doi":"10.5114/pedm.2026.162373","DOIUrl":"10.5114/pedm.2026.162373","url":null,"abstract":"<p><strong>Introduction: </strong>Te 1yp diabetes mellitus (DM1) requires lifelong insulin administration. Standards of care on children with DM1 may vary between countries. Since 2022, many war refugees from Ukraine with DM1 have continued treatment in Poland.</p><p><strong>Aim of the research: </strong>To compare Polish (PL) and Ukrainian (UA) children with DM1 with respect to methods of insulin administration, glucose monitoring, auxological development, and comorbidities, and to re-assess UA children after 1 year of stay in Poland.</p><p><strong>Material and methods: </strong>The retrospective analysis included 35 UA school-aged refugees and 70 PL children, matched with respect to sex, age, and DM1 duration.</p><p><strong>Results: </strong>Continuous subcutaneous insulin infusion (CSII) and continuous glucose monitoring (CGM) were significantly more frequently used by PL children than by UA ones. Glycated hemoglobin (HbA1c) levels were lower in PL than in UA patients, in both CGM and CSII users. Patients' height standard deviation score (SDS) was significantly lower in UA than in PL children, while body mass index (BMI) SDS was significantly lower in UA patients on constant insulin doses. The incidence of overweight and obesity depended on the used centile charts (national for PL or UA children, or World Health Organization). After 1 year, more UA children used CSII and CGM, with an increase of height SDS and BMI SDS, while there was no effect on HbA1c. Vitamin D deficiency and autoimmune thyroiditis were common comorbidities.</p><p><strong>Conclusions: </strong>Use of CSII and especially of CGM is associated with improved DM1 control and auxological development. The migration of children with DM1 was associated with modification of their treatment and challenges in proper assessment of nutritional status.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"32 2","pages":"96-106"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13448224/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148907605","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}
引用次数: 0
The impact of sports supplements on metabolism, glycemic control, and lipid profile in adolescents and young adults: a narrative review. 运动补充剂对青少年和年轻人代谢、血糖控制和血脂的影响:一项叙述性综述。
Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2026-01-01 DOI: 10.5114/pedm.2026.162626
Jakub Brodowski, Artur Bossowski, Barbara Głowińska-Olszewska
{"title":"The impact of sports supplements on metabolism, glycemic control, and lipid profile in adolescents and young adults: a narrative review.","authors":"Jakub Brodowski, Artur Bossowski, Barbara Głowińska-Olszewska","doi":"10.5114/pedm.2026.162626","DOIUrl":"10.5114/pedm.2026.162626","url":null,"abstract":"<p><strong>Introduction: </strong>Glucose and lipid metabolism are tightly regulated by hormonal signaling, nutrition, and physical activity. Adolescence and young adulthood represent critical developmental periods characterized by puberty-related hormonal shifts and fluctuating insulin sensitivity. At the same time, sports supplement use has increased markedly in these age groups.</p><p><strong>Aim of the research: </strong>This narrative review examined regulatory mechanisms of glucose and lipid metabolism and evaluated the available evidence regarding the metabolic effects of commonly used sports supplements in adolescents and young adults, considering baseline metabolic status such as obesity, insulin resistance, and diabetes. Relevant findings from adult populations were considered when youth-specific data were limited.</p><p><strong>Material and methods: </strong>A literature search of PubMed/MEDLINE and Scopus was conducted for studies published up to 2025. Eligible publications included randomized controlled trials, observational studies, systematic reviews, meta-analyses, and experimental research. Supplements of interest were creatine, carnitine, citrulline, taurine, caffeine, branched-chain amino acids (BCAAs), whey protein, arginine, and -alanine.</p><p><strong>Results: </strong>Taurine, carnitine, and citrulline were associated with modest improvements in fasting glucose, insulin resistance, triglycerides, and non-high-density lipoprotein cholesterol, particularly in individuals with obesity or insulin resistance. Creatine appeared metabolically neutral or mildly beneficial when combined with exercise. Elevated BCAA levels were associated with impaired insulin sensitivity. Whey protein showed short-term insulinotropic effects without clear long-term benefits. Caffeine induced transient, dose-dependent reductions in insulin sensitivity. Arginine and -alanine had minimal metabolic impact. Regular physical activity remained the most consistent modulator of glucose and lipid metabolism.</p><p><strong>Conclusions: </strong>Sports supplements exert heterogeneous metabolic effects in youth. While selected supplements may provide modest benefits in specific populations, regular physical activity remains fundamental for metabolic regulation. Professional supervision and cautious use are recommended.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"32 2","pages":"129-140"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13448229/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148907701","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}
引用次数: 0
Efficacy of recombinant growth hormone therapy in children born small for gestational age (SGA): a retrospective analysis. 重组生长激素治疗在小胎龄儿(SGA)中的疗效:回顾性分析。
Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2026-01-01 DOI: 10.5114/pedm.2026.163204
Aleksandra Pałysa, Monika Kopiec-Burdecka, Beata Pyrżak
{"title":"Efficacy of recombinant growth hormone therapy in children born small for gestational age (SGA): a retrospective analysis.","authors":"Aleksandra Pałysa, Monika Kopiec-Burdecka, Beata Pyrżak","doi":"10.5114/pedm.2026.163204","DOIUrl":"10.5114/pedm.2026.163204","url":null,"abstract":"<p><strong>Introduction: </strong>Children born small for gestational age (SGA) present with a birth weight or length below -2 standard deviations (SD) relative to population norms for gestational age and sex. In Poland, such patients are eligible for recombinant human growth hormone (rhGH) therapy reimbursed by the National Health Fund.</p><p><strong>Aim: </strong>To retrospectively assess the effectiveness of rhGH therapy in children diagnosed with SGA based on clinical data from 39 patients treated with rhGH between 2016 and 2025.</p><p><strong>Material and methods: </strong>Anthropometric data were analysed at therapy initiation and completion. Treatment duration and changes in height and weight SD score (SDS) were evaluated. The influence of age at treatment initiation and sex on therapy outcomes was also assessed.</p><p><strong>Results: </strong>The mean treatment duration was 3 years and 9 months. The average annual height gain was 6.9 cm/year and weight gain 5.3 kg/year. Boys showed a significantly higher annual height gain than girls (p = 0.013), while weight gain differences were not significant (p = 0.08). An improvement in both height and weight SDS was observed across all age groups, with the most pronounced benefits among children who began therapy before the age of 10 years. The most frequent reason for treatment discontinuation was reduced growth velocity.</p><p><strong>Conclusions: </strong>rhGH therapy in children born SGA is effective and safe, resulting in an improvement in growth parameters. The best outcomes are achieved when treatment is initiated in early childhood. The therapy is safe when accompanied by appropriate metabolic monitoring.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"32 3","pages":"161-164"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13628192/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149231093","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}
引用次数: 0
Dysmorphic syndromes with overgrowth - systematic review, part 2: chromosomal and epigenetic disorders and disorders associated with dynamic mutations. 畸形综合征伴过度生长-系统回顾,第2部分:染色体和表观遗传疾病以及与动态突变相关的疾病。
Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2026-01-01 DOI: 10.5114/pedm.2026.159968
Julia Gąsiorowska, Amelia Grundys, Laura Gawlik, Weronika Dziamara, Robert Śmigiel, Beata Wikiera
{"title":"Dysmorphic syndromes with overgrowth - systematic review, part 2: chromosomal and epigenetic disorders and disorders associated with dynamic mutations.","authors":"Julia Gąsiorowska, Amelia Grundys, Laura Gawlik, Weronika Dziamara, Robert Śmigiel, Beata Wikiera","doi":"10.5114/pedm.2026.159968","DOIUrl":"10.5114/pedm.2026.159968","url":null,"abstract":"<p><strong>Introduction: </strong>Dysmorphic syndromes are characterised by congenital anomalies affecting craniofacial features, body proportions, and organ structure. They are frequently caused by complex genetic alterations, including deletions, duplications, and microdeletions, which impede optimal growth regulation.</p><p><strong>Aim of the study: </strong>The objective of this paper is to present a synopsis of selected dysmorphic syndromes associated with excessive growth, with particular emphasis on syndromes with confirmed or strongly suspected chromosomal aetiology or associated with DNA methylation disorders (epigenetic disorders) with dynamic mutation. The following aspects are discussed in this text: the pathogenesis of the condition, its inheritance, the characteristic clinical symptoms, the diagnostic approach and potential treatment options. The following essay will provide a comprehensive overview of the relevant literature on the subject.</p><p><strong>Material and methods: </strong>A thorough search of various databases yielded 50,385 scientific studies. After applying strict criteria for quality and relevance, 36 studies were selected for final analysis. The selection focused on the most recent peer-reviewed studies and case studies published in English.</p><p><strong>Results: </strong>This review identified several key chromosomal abnormalities, dynamic mutations and methylation defects linked to overgrowth syndromes. The findings consistently associated these aberrations with core clinical features such as macrocephaly, developmental delay, and musculoskeletal abnormalities. Furthermore, the study confirmed that mosaic forms and specific genetic mechanisms, such as those found in hemihyperplasia, contribute significantly to the phenotypic variability of these disorders.</p><p><strong>Conclusions: </strong>Overgrowth syndromes are a heterogeneous group of disorders characterised by excessive growth and additional congenital anomalies. Diagnosis relies on clinical evaluation supported by molecular genetic testing. Effective management requires ongoing, collaborative care from a diverse team to promote the patient's health and development throughout their life.</p>","PeriodicalId":39165,"journal":{"name":"Pediatric Endocrinology, Diabetes and Metabolism","volume":"32 1","pages":"43-49"},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13153756/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147784260","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}
引用次数: 0
Metabolic outcomes and insulin therapy modifications during Ramadan fasting in children with type 1 diabetes mellitus in low-resource settings. 低资源环境下1型糖尿病儿童斋月禁食期间的代谢结局和胰岛素治疗改变
Pediatric Endocrinology, Diabetes and Metabolism Pub Date : 2026-01-01 DOI: 10.5114/pedm.2026.163207
Ajeng Dias Puspitasari, Rayi Kurnia Perwitasari, Yuni Hisbiyah, Abdulsalam I Abu-Libdeh, Nur Rochmah, Muhammad Faizi
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