Hormone Research in Paediatrics最新文献

{"title":"Co-Occurrence of Dysembryoplastic Neuroepithelial Tumor and Hodgkin Lymphoma in a Patient with Noonan Syndrome and Mutation in the PTPN11 Gene.","authors":"Caroline Rosa Pellicciari, Adriana Aparecida Siviero Miachon, Angela Maria Spinola E Castro, Andrea Maria Cappellano, Nasjla Saba da Silva, Frederico Adolfo Benevides Silva, Flavio Augusto Vercillo Luisi, Alexander A L Jorge, Alexsandra C Malaquias","doi":"10.1159/000546262","DOIUrl":"10.1159/000546262","url":null,"abstract":"<p><strong>Introduction: </strong>Noonan syndrome (NS) is a genetic disorder which belongs to the RASopathy family, characterized by craniofacial dysmorphisms, short stature, congenital heart defects, and an increased predisposition to malignancies. Although hematologic malignancies, neuroblastomas, and certain solid tumors have been documented in NS, the co-occurrence of dysembryoplastic neuroepithelial tumor (DNET) and Hodgkin lymphoma has not been previously reported in the literature.</p><p><strong>Case presentation: </strong>We present the case of an 11-year-old boy with NS caused by a pathogenic variant in the PTPN11 gene who developed both a DNET and Hodgkin lymphoma. Notably, the patient had been receiving recombinant human growth hormone (rhGH) therapy prior to tumor diagnosis, raising concerns about potential contributing factors. Through a literature review, we identified reports of DNETs and lymphomas in patients with NS, highlighting the variability in genetic mutations and clinical presentations. However, no predominant PTPN11 variant was associated with a specific tumor predisposition.</p><p><strong>Conclusion: </strong>This case underscores the complex relationship between NS and tumor development, reinforcing the importance of individualized surveillance strategies, particularly in patients undergoing rhGH therapy. Further studies are needed to clarify the oncogenic potential of specific NS-associated mutations and to establish evidence-based guidelines for cancer surveillance in these patients.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-9"},"PeriodicalIF":2.6,"publicationDate":"2025-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093357","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Persistent Hyperparathyroidism in Vitamin D-Dependent Rickets Type 2A Does Not Prevent Normalization of Hypophosphatemia or Healing of the Rickets.","authors":"Maria Lodefalk, Ola Nilsson","doi":"10.1159/000546444","DOIUrl":"10.1159/000546444","url":null,"abstract":"<p><strong>Introduction: </strong>Vitamin D-dependent rickets type 2A (VDDR2A) is a rare, autosomal recessive disorder caused by pathogenic variants of the VDR gene encoding the vitamin D receptor. It has been proposed to be a form of parathyroid hormone (PTH)-dependent rickets. Here, we describe in detail a girl with VDDR2A who developed a long-standing, tertiary hyperparathyroidism that did not prevent healing of the rickets nor normalization of hypophosphatemia.</p><p><strong>Case presentation: </strong>A girl who presented with seizures at 9 months of age was diagnosed with VDDR2A. She had poor growth, alopecia, severe hypocalcemia, hypophosphatemia, elevated levels of alkaline phosphatase (ALP), PTH and 1,25-dihydroxyvitamin D, and severe rickets. Genetic studies revealed a novel homozygous microdeletion that included exon 9 of the VDR gene. She responded only partially to high oral doses of calcium, cholecalciferol, and alfacalcidol. Upon the initiation of IV calcium infusions, bone pain resolved, and the rickets healed within weeks. In parallel with decreasing ALP values, her phosphate levels normalized even though her PTH levels remained markedly elevated. PTH levels remained elevated for approximately 1 year after the normalization of S-Ca2+. Calcium infusions, despite rendering her mildly hypercalcemic, mostly failed to suppress her PTH into the normal range, consistent with tertiary hyperparathyroidism. The hyperparathyroidism eventually resolved spontaneously with continued high oral doses of calcium, cholecalciferol, and alfacalcidol, which promoted sustained normocalcemia without the need for either cinacalcet or surgery.</p><p><strong>Conclusion: </strong>Persistent tertiary hyperparathyroidism can develop in children with VDDR2A, but does not seem to prevent the healing of rickets nor normalization of hypophosphatemia. High doses of calcium, preferably administered intravenously, seem to be sufficient for the healing of rickets. We speculate that IV calcium compared to oral calcium increases intestinal phosphorus uptake, and once rickets has healed, improved appetite and dietary phosphorus intake together with reduced phosphorus demands due to saturated bones contribute to the normalization of phosphate levels despite persistent hyperparathyroidism.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-10"},"PeriodicalIF":2.6,"publicationDate":"2025-05-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12187100/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093461","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Somapacitan Is Effective and Well Tolerated in Chinese Children with Growth Hormone Deficiency: A Randomized Controlled Phase 3 Study.","authors":"Junfen Fu, Xinran Cheng, Michael Højby, Chunxiu Gong, Tina Lund Leunbach, Yanhong Li, Haiyan Wei, Yu Zhu, Yining Zhang, Yan Zhong","doi":"10.1159/000545786","DOIUrl":"10.1159/000545786","url":null,"abstract":"<p><strong>Introduction: </strong>REAL6 is a randomized, multi-centre, open-labelled, active-controlled parallel group phase 3 trial (NCT04970654) investigating once-weekly somapacitan, a reversible albumin-binding growth hormone (GH) derivative, in Chinese children with GH deficiency (GHD).</p><p><strong>Methods: </strong>110 treatment-naïve patients were randomized 2:1 to somapacitan (0.16 mg/kg/week) or daily GH (Norditropin®; 0.034 mg/kg/day) for 52 weeks. Annualized height velocity (HV; cm/year) at week 52 was the primary measurement. Additional assessments included HV standard deviation score (SDS), height SDS (HSDS), bone age, insulin-like growth factor-I (IGF-I) SDS, and observer-reported outcomes.</p><p><strong>Results: </strong>Estimated mean HV at week 52 was 11.0 and 10.4 cm/year for somapacitan and daily GH, respectively. Non-inferiority of somapacitan compared to daily GH was confirmed. Changes in HVSDS, HSDS, bone age, and IGF-I SDS from baseline to week 52 were similar between groups. At week 52, mean (SD) IGF-I SDS was within intended reference range (-2.0 to +2.0) and comparable between groups: +0.5 (1.4) for somapacitan versus +0.1 (1.2) for daily GH. Somapacitan was well tolerated with a safety profile consistent with the well-known safety profile of daily GH. A low proportion of injection site reactions were reported for somapacitan (2.7%), with no reports of injection site pain during the 52-week treatment period. Disease burden was reduced from baseline to week 52 for both treatments. Somapacitan reduced treatment burden compared to daily GH.</p><p><strong>Conclusions: </strong>Efficacy and safety profiles were comparable for Chinese children with GHD treated with somapacitan or daily GH. Both treatments similarly reduced disease burden, while treatment burden was reduced with somapacitan.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-12"},"PeriodicalIF":2.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12129415/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017350","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Endocrine-Related Adverse Conditions in Pediatric Patients Treated with Immune Checkpoint Inhibitors: A Position Statement from the Clinical Practice Committee of the European Society for Pediatric Endocrinology.","authors":"Christa E Flück, Dulanjalee Kariyawasam, Francesco Ceppi, Shlomit Shalitin, Kanetee Busiah","doi":"10.1159/000546146","DOIUrl":"10.1159/000546146","url":null,"abstract":"<p><p>Immune checkpoint inhibitors (ICIs) are new cancer therapies that function either by blocking the interaction between programmed cell death 1 (PD-1) and programmed cell death ligand 1 (PD-L1) or by inhibiting cytotoxic T-lymphocyte antigen 4 (CTLA-4). The utilization of ICIs has improved outcomes for advanced, relapsed, or refractory malignancies in adults and children. Concerns have been raised due to immune-related adverse events (irAEs). The most frequently observed endocrine irAEs in children and adolescents include adrenal insufficiency, diabetes, thyroid dysfunction, and hypophysitis. The Clinical Practice Committee of the European Society for Pediatric Endocrinology (ESPE) aims to highlight the current knowledge and gaps on ICI irAE on the endocrine system in children and adolescents.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-4"},"PeriodicalIF":2.6,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12176352/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143990184","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Numeracy Skills and Glycemic Control in an Observational, Multicenter, Cross-Sectional, and International Study of Children with Type 1 Diabetes.","authors":"Ioanna Kosteria, Przemyslawa Jarosz-Chobot, Carine de Beaufort, Timothy G Barrett, Marianne Becker, Fergus Cameron, Luis A Castaño, Cintia Castro-Correia, Mark Palmert, Joanna Polanska, Stefan Särnblad, Timothy C Skinner, Jannet Svensson","doi":"10.1159/000545419","DOIUrl":"10.1159/000545419","url":null,"abstract":"<p><strong>Aims: </strong>This study examined the possible association between numeracy skills and glycemic outcomes in children with type 1 diabetes.</p><p><strong>Methods: </strong>The study used a cross-sectional design and collected data from 7 centers of the Hvidoere Study Group. HbA1c was measured centrally. Numeracy was assessed using the specific 5-item Diabetes Numeracy Test (DNT-5) and the international, general Wordless Mathematical Test (WMT). The HbA1c predictive multivariate generalized linear model was constructed using the adjusted R-squared index for model selection. Pearson's correlation coefficient was calculated between observed and predicted HbA1c levels in the training and testing datasets.</p><p><strong>Results: </strong>Overall,306 adolescents aged 12-18 (mean age 14.96 ± 1.68) years and diabetes duration of 6.57 (±3.75) participated in this study. Numeracy skills, as assessed by the WMT but not DNT-5, predicted the HbA1c levels after adjustment for sociodemographic and clinical factors. The correlation between observed and predicted HbA1c levels was consistent in both datasets and was 0.34 (N = 155) and 0.37 (N = 61) for the training and test datasets, respectively (p = 0.412). The effect size for the WMT-based predictive model of HbA1c adjusted for clinical and socioeconomic factors was significantly higher (p < 0.05) than the single-parameter-based model.</p><p><strong>Conclusions: </strong>Numeracy, as assessed by an international general math test, is a good predictor of HbA1c in children and adolescents with type 1 diabetes. The basic and short WMT is a potentially effective tool in personalized clinical pediatric diabetes practice. Therapy planning should consider adjusting therapy to compensate for lower numeracy skills and/or training to improve the patient's numerical proficiency.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-9"},"PeriodicalIF":2.6,"publicationDate":"2025-04-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12158406/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144003478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Increasing Contribution of Adolescent Type 1 Diabetes Drives Incidence Rates in Poland: A 40-Year-Long Observational Study.","authors":"Agnieszka Szadkowska, Iwona Pietrzak, Arkadiusz Michalak, Jędrzej Chrzanowski, Agnieszka Zmysłowska, Anna Hogendorf, Anna Baranowska-Jaźwiecka, Hanna Kuśmierczyk-Kozieł, Aleksandra Olejniczak, Aleksandra Dynowska, Aleksandra Kordialik, Wojciech Fendler, Beata Mianowska","doi":"10.1159/000545304","DOIUrl":"10.1159/000545304","url":null,"abstract":"<p><strong>Introduction: </strong>The incidence of childhood type 1 diabetes (T1D) has increased globally in recent decades. Analyzing incidence trends can elucidate patterns and predict future healthcare burdens. We aimed to assess changes in the incidence and prevalence of pediatric type 1 diabetes over 40 years in Central Poland.</p><p><strong>Methods: </strong>This prospective observational study in Lodz Province registered all new-onset type 1 diabetes cases in children 0-14 years old admitted from 1983 to 2022 to reference centers for pediatric diabetes. Diagnoses were based on established guidelines, and other types of diabetes were excluded. Population data were obtained from Poland's General Statistical Office.</p><p><strong>Results: </strong>The incidence rate of type 1 diabetes increased tenfold, from 3.29/100,000 (95% CI: 1.85-4.73) in 1983 to 32.43 (26.42-38.44) in 2022, with an annual percentage change of 5.73% (4.99%-6.44%) and two distinct increase periods: rapid in 1983-2005 (7.38% [6.30-10.52%]) and slower in 2005-2022 (3.65% [-0.86-5.13%]). Incidence rates in 0-4-year-olds were significantly lower than in 5-9 and 10-14-year-olds (p < 0.0001). While incidence plateaued in the 0-4-year-olds after 2007, it consistently increased in older children. Most new cases were diagnosed in winter (December-February, a mean difference from the remaining seasons of 29 ± 11.6% points, p < 0.0001). The prevalence of type 1 diabetes increased, reaching 177.21/100,000 (163.18-191.24) in 2022.</p><p><strong>Conclusions: </strong>Over the past 40 years, the incidence of pediatric type 1 diabetes in Central Poland has increased significantly, though the rate is slowing. Most new cases occur in children 10 years old and older, so healthcare systems should adapt to young adults who are extensive users of new diabetes technologies.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-8"},"PeriodicalIF":2.6,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12119056/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017707","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"In Memoriam of Kerstin Albertsson-Wikland.","authors":"Martin Ritzen, Olle Söder, Anna Olivecrona, Stefano Cianfarani","doi":"10.1159/000545758","DOIUrl":"https://doi.org/10.1159/000545758","url":null,"abstract":"","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-2"},"PeriodicalIF":2.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143965539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"In Memoriam of Kerstin Albertsson-Wikland.","authors":"Martin Ritzen, Olle Söder, Anna Olivecrona, Stefano Cianfarani","doi":"10.1159/000545758","DOIUrl":"https://doi.org/10.1159/000545758","url":null,"abstract":"","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-2"},"PeriodicalIF":2.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144063519","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"In memoriam of Prof. Kerstin Albertsson-Wikland.","authors":"Martin Ritzen, Olle Soder, Anna Olivecrona, Stefano Cianfarani","doi":"10.1159/000545758","DOIUrl":"https://doi.org/10.1159/000545758","url":null,"abstract":"","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-4"},"PeriodicalIF":2.6,"publicationDate":"2025-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143811324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Innovative Care for Children and Adolescents with Severe and/or Genetic Obesity.","authors":"Melanie Schirmer, Stefanie Zorn, Julia von Schnurbein, Martin Wabitsch","doi":"10.1159/000544177","DOIUrl":"10.1159/000544177","url":null,"abstract":"<p><strong>Background: </strong>Children and adolescents with severe and/or genetic obesity require continuous care and long-term treatment due to the chronic, relapsing, and progressive nature of their disease. Understanding the molecular mechanisms underlying the regulation of hunger, satiety, body weight, and the development of obesity enables a personalized treatment approach. Individualized, multimodal treatment strategies are essential for effective, long-term management of severe and/or genetic obesity in affected children and adolescents. New pharmacological treatments, such as mechanism-based medications for genetic obesity and incretin-based drugs for severe obesity, represent significant advances in chronic weight management and are valuable adjuncts to individualized lifestyle interventions.</p><p><strong>Summary: </strong>This article outlines an innovative, structured care and treatment concept for children and adolescents with severe and/or genetic obesity tailored to their specific needs and requirements. It emphasizes the importance of providing care within specialized treatment centers under the \"Chronic Care Model,\" in close collaboration with local healthcare providers.</p><p><strong>Key message: </strong>In order to ensure long-term treatment of children and adolescents with severe and/or genetic obesity, innovative and structured care concepts consisting of individualized, multimodal treatment strategies in specialized treatment centers in collaboration with local healthcare providers are required.</p>","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-10"},"PeriodicalIF":2.6,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143752430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}