Hormone Research in Paediatrics最新文献_第5页

Functional Noncoding Variants in a TTTG Microsatellite on Chromosome 15q26.1 Are a Common Genetic Etiology of Congenital Hypothyroidism with Thyroid Gland in situ. 染色体15q26.1上TTTG微卫星的功能性非编码变异是先天性甲状腺功能减退症（甲状腺原位病变）的常见遗传病因。

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-06-10 DOI: 10.1159/000546712

Hirohito Shima, Tomohiro Nakagawa, Kanako Kojima-Ishii, Akinobu Miura, Ikuma Fujiwara, Satoshi Narumi, Atsuo Kikuchi, Junko Kanno

{"title":"Functional Noncoding Variants in a TTTG Microsatellite on Chromosome 15q26.1 Are a Common Genetic Etiology of Congenital Hypothyroidism with Thyroid Gland in situ.","authors":"Hirohito Shima, Tomohiro Nakagawa, Kanako Kojima-Ishii, Akinobu Miura, Ikuma Fujiwara, Satoshi Narumi, Atsuo Kikuchi, Junko Kanno","doi":"10.1159/000546712","DOIUrl":"10.1159/000546712","url":null,"abstract":"Introduction: Variants affecting a microsatellite on the noncoding region of chromosome 15q26.1 are associated with familial non-autoimmune thyroid abnormalities characterized by mild congenital hypothyroidism (CH) with elevated thyroglobulin (Tg) levels. Some individuals who carry these variants may develop multinodular goiter if left untreated. Although these variants have been recognized as genetic etiologies of CH, nongoitrous, 3 (CHNG3), the associated severity of CH remains unclear.Method: A cohort of 63 participants diagnosed with CH at Tohoku University underwent screening for genetic variants on 15q26.1. We then analyzed the clinical phenotypes of the variant-carrying participants.Results: We identified five 15q26.1 variant carriers from four families among the cohort. Family histories of thyroid abnormalities were documented in three of these 5 cases. The variant carriers had mild CH phenotypes, with two discontinuing levothyroxine treatment and the others requiring relatively low doses (1.33-1.89 µg/kg/day) at their final visit. During levothyroxine treatment, serum Tg and thyroid-stimulating hormone (TSH) levels were within the reference ranges at the majority of the evaluation points. Three of the five participants continued treatment into adulthood, whereas the other two discontinued it and maintained serum TSH levels within the reference range. All five participants exhibited normal intellectual development and stature.Conclusion: These findings provide further evidence supporting the role of 15q26.1 variants as a common genetic etiology of CH, with clinical phenotypes including transient CH. Early genetic evaluation may facilitate the identification of 15q26.1 variant carriers among patients who are diagnosed with CH.","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-6"},"PeriodicalIF":2.6,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266137","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}

引用次数: 0

Glycaemic Control and Body Mass Index in Children with Type 1 Diabetes with and without Celiac Disease: A Longitudinal National Cohort Study. 伴有和不伴有乳糜泻的1型糖尿病儿童的血糖控制和BMI -一项纵向国家队列研究

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-06-10 DOI: 10.1159/000545587

Hanna Söderström, Marie Lindgren, Helena Elding Larsson, Gun Alfhild Forsander, Johnny Ludvigsson, Matti Cervin, Annelie Carlsson

{"title":"Glycaemic Control and Body Mass Index in Children with Type 1 Diabetes with and without Celiac Disease: A Longitudinal National Cohort Study.","authors":"Hanna Söderström, Marie Lindgren, Helena Elding Larsson, Gun Alfhild Forsander, Johnny Ludvigsson, Matti Cervin, Annelie Carlsson","doi":"10.1159/000545587","DOIUrl":"10.1159/000545587","url":null,"abstract":"Introduction: The risk of celiac disease (CD) is high in children with type 1 diabetes (T1D). While some studies have linked CD in children with T1D to impaired growth and poorer glycaemic control, results have been inconsistent. Further, no study has examined the relevance of whether the diagnosis of CD is established before, in conjunction with, or after T1D. We aimed to examine whether CD influences body mass index (BMI) and glycaemic control in children with T1D, and whether the timing of the onset of CD is of relevance.Methods: Swedish children diagnosed with T1D between 2005 and 2010 who were enrolled in the Better Diabetes Diagnosis study (N = 3,612; >90% national coverage) were included. The participants were screened for CD at T1D diagnosis and annually for 5 years. BMI-standard deviation score (BMI-SDS), glycaemic control (HbA1c), and diabetes ketoacidosis (DKA) were assessed at T1D diagnosis, BMI-SDS, and HbA1c at five annual follow-ups.Results: Children diagnosed with CD at the same time as the T1D diagnosis had statistically significantly lower BMI-SDS compared to children without a CD diagnosis at all follow-up assessments. Children diagnosed with CD before T1D had a significantly lower BMI-SDS during the first 2 years of follow-up. CD status was not associated with HbA1c or DKA at T1D diagnosis or during follow-up.Conclusion: Children diagnosed with T1D with known or identified CD at the time of diagnosis had a lower BMI-SDS up to 5 years after T1D diagnosis and may require additional nutritional support. The presence or timing of a CD diagnosis does not appear to be associated with glycaemic control in children with T1D.","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-11"},"PeriodicalIF":2.6,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266138","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}

引用次数: 0

Priming Short Children with Sex Steroids prior to Growth Hormone Testing Decreases the Frequency of Divergent Results. 在进行生长激素测试之前，给矮个子儿童使用性类固醇可以减少结果不一致的频率。

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-06-10 DOI: 10.1159/000546884

Otto Lennartsson, Ola Nilsson, Maria Lodefalk

{"title":"Priming Short Children with Sex Steroids prior to Growth Hormone Testing Decreases the Frequency of Divergent Results.","authors":"Otto Lennartsson, Ola Nilsson, Maria Lodefalk","doi":"10.1159/000546884","DOIUrl":"10.1159/000546884","url":null,"abstract":"Introduction: Diagnosing growth hormone (GH) deficiency (GHD) is challenging due to the low specificity of diagnostic tests, particularly in children during the prepubertal and early pubertal stages. Although sex steroid priming increases stimulated GH peak levels, its impact on spontaneous nocturnal GH values has not yet been reported. Priming may reduce discrepancies between spontaneous and stimulated GH testing, potentially improving diagnostic accuracy. We aimed to assess the impact of priming on combined spontaneous and stimulated GH testing and the occurence of divergent test results, as well as to evaluate short-term adverse events associated with priming.Methods: This was a retrospective chart review of all 132 short children who underwent a nocturnal spontaneous GH secretion test followed by an arginine-insulin stimulation test over 30 years at the Department of Pediatrics, Örebro University Hospital, Sweden.Results: Among the 132 children tested, 25 (19%) received priming prior to GH testing. Compared with nonprimed children, primed children presented higher peak and mean spontaneous GH values (14.2 μg/L [0.6-22.5] vs. 10.8 μg/L [0.2-27.0], p = 0.042 and 3.0 μg/L [0.3-6.9] vs. 2.3 μg/L [0.1-6.9], p = 0.007, respectively). Divergent results between the two GH tests were less common in primed children (4%) than in nonprimed children (23%, p = 0.027). Mild adverse events occured in three (12%) of the primed children.Conclusion: Sex steroid priming prior to GH testing is well tolerated, enhances spontaneous nocturnal GH secretion, and reduces the frequency of divergent results between spontaneous and stimulated values. We recommend incorporating priming when evaluating children in prepuberty or early puberty for suspected GHD.","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-10"},"PeriodicalIF":2.6,"publicationDate":"2025-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12266696/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144266139","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}

引用次数: 0

Use of Aromatase Inhibitors in Short Children and Adolescents to Increase Height Gain: A Current Practice Survey and Review of the Literature. 在矮小的儿童和青少年中使用芳香化酶抑制剂来增加身高：当前的实践调查和文献综述。

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-05-30 DOI: 10.1159/000546576

Diego Zepeda, Veronica Mericq

{"title":"Use of Aromatase Inhibitors in Short Children and Adolescents to Increase Height Gain: A Current Practice Survey and Review of the Literature.","authors":"Diego Zepeda, Veronica Mericq","doi":"10.1159/000546576","DOIUrl":"10.1159/000546576","url":null,"abstract":"Introduction: Management of pediatric patients with short stature or short predicted adult height (PAH) is challenging. The use of aromatase inhibitors (AIs) has become a therapeutic option. Up to date, there is still scarce data about the indications of AI. Our aim was to conduct a survey on the real-world use of AI in pediatric patients with short stature or short PAH.Methods: We conducted a descriptive, cross-sectional, questionnaire-based study. Participants were collected throughout convenient sampling and by diffusion through different pediatric endocrine societies.Results: Two hundred and forty-three endocrinologists from 23 countries answered the survey, mostly from South America. 71.6% indicated AI to improve PAH. The main reason for not using AI was the lack of long-term data on effectiveness. 25.9% used AI in prepubertal patients and the most common indication in this group was in boys with congenital adrenal hyperplasia. A 92% of the survey participants used AI in pubertal patients with short stature and short PAH, regardless of the cause, mostly combined with growth hormone. Most clinicians felt confident about effectiveness of AI in reducing bone age advancement and improving PAH in pubertal male patients. One-fifth of the clinicians had to discontinue treatment due to adverse effects.Conclusion: This survey indicates that the use of AI among endocrinologists in patients with short stature or short PAH is increasing as more studies have come to light. However, questions remain regarding long-term outcomes, highlighting the need for future trials to further reassure its safety and effectiveness.","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-9"},"PeriodicalIF":2.6,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198888","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}

引用次数: 0

A Dual Etiology of Neonatal Hypoglycemia Secondary to FOXA2 Heterozygous Deletion. 新生儿低血糖继发于FOXA2杂合缺失的双重病因。

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-05-26 DOI: 10.1159/000546342

Margaux Stamm, Carine Villanueva, Lucie Bazus, Sara Cabet, Marc Nicolino, Kevin Perge

{"title":"A Dual Etiology of Neonatal Hypoglycemia Secondary to FOXA2 Heterozygous Deletion.","authors":"Margaux Stamm, Carine Villanueva, Lucie Bazus, Sara Cabet, Marc Nicolino, Kevin Perge","doi":"10.1159/000546342","DOIUrl":"10.1159/000546342","url":null,"abstract":"Introduction: Neonatal hypoglycemia is a critical pediatric condition that requires prompt diagnosis and treatment to prevent long-term neurological damage.Case presentation: This case study reports a female newborn with recurrent hypoglycemia within hours of birth. There was no family history of hypoglycemia or diabetes. The pregnancy was unremarkable, with no gestational diabetes, and no abnormalities were detected on prenatal ultrasounds. The girl was born at 36 weeks of gestation by emergency cesarean section due to an abnormal fetal heart rate and with normal parameters. A biological assessment carried out at the time of hypoglycemia revealed somatotropic, thyrotropic, and corticotropic insufficiencies. A brain MRI showed hypoplasia of the anterior pituitary gland and interruption of the pituitary stalk, as well as an ectopic posterior pituitary gland on the floor of the third ventricle. Altogether, these findings led to the diagnosis of congenital panhypopituitarism secondary to pituitary stalk interruption syndrome. Hormone replacement therapy was initiated. Despite that treatment, hypoglycemia persisted, new assessments revealed congenital hyperinsulinism, and treatment with diazoxide was initiated, leading to stabilization of blood glucose levels. Genetic testing identified a FOXA2 heterozygous deletion resulting in both congenital hyperinsulinism and congenital panhypopituitarism.Conclusion: The role of the FOXA2 gene in both conditions highlights the need for awareness and precise diagnosis to ensure timely and appropriate treatment. This case underscores the complexity of neonatal hypoglycemia, where dual endocrine pathologies can coexist, necessitating comprehensive and careful evaluation.","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-7"},"PeriodicalIF":2.6,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144150281","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}

引用次数: 0

Hepatic Steatosis and Stiffness in Adolescent Obesity Are Linked to Androgenemia, Insulin Sensitivity, and Inflammation. 青少年肥胖中的肝脂肪变性和硬化与雄激素血症、胰岛素敏感性和炎症有关。

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-05-23 DOI: 10.1159/000546577

Mary Ellen Vajravelu, Nabiha Shahid, Marianne Chebli, Theresa Stauffer, James E Squires, Sameh Tadros, Selma F Witchel, Silva Arslanian

{"title":"Hepatic Steatosis and Stiffness in Adolescent Obesity Are Linked to Androgenemia, Insulin Sensitivity, and Inflammation.","authors":"Mary Ellen Vajravelu, Nabiha Shahid, Marianne Chebli, Theresa Stauffer, James E Squires, Sameh Tadros, Selma F Witchel, Silva Arslanian","doi":"10.1159/000546577","DOIUrl":"10.1159/000546577","url":null,"abstract":"Introduction: Metabolic dysfunction-associated steatotic liver disease (MASLD) is driven by obesity and is common among girls with polycystic ovary syndrome (PCOS). Higher testosterone concentrations are associated with more severe histological MASLD features in girls, but less severe in boys. This proof-of-concept study tested the hypotheses that MRI-based hepatic fat and stiffness are higher among girls with PCOS versus girls without PCOS but not boys and are associated with testosterone concentration (differing by sex), insulin sensitivity, and inflammation.Methods: This proof-of-concept cross-sectional study at an academic pediatric center included pubertal girls (n = 25; 10 without PCOS, 15 with PCOS) and boys (n = 10) with obesity, aged 12-18 years. Outcomes were (primary) MRI hepatic fat fraction (HFF %) and stiffness and (secondary) insulin sensitivity index (ISI), 2-h OGTT, and inflammatory markers.Results: HFF was higher in girls with PCOS versus those without but not different from boys. Stiffness did not differ by group. HFF and stiffness were both directly associated with OGTT 2-h glucose and inversely with ISI. Stiffness was directly associated with testosterone (total, free) in girls without PCOS and with interleukin (IL)-6 and IL-18 in the full cohort.Conclusions: HFF was higher in girls with PCOS versus those without, but not different from boys. While stiffness did not differ by group, its association with testosterone concentrations in girls without PCOS may be an additional risk biomarker for MASLD in addition to inflammation and insulin resistance. Future larger, longitudinal studies should determine if addressing these alterations, separately or collectively, in youth with obesity could improve hepatic outcomes.","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-11"},"PeriodicalIF":2.6,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144142435","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}

引用次数: 0

Exploring the Heterogeneity of Pediatric Neuroendocrine Tumors: Single-Center Experience. 探索儿童神经内分泌肿瘤的异质性：单中心经验。

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-05-20 DOI: 10.1159/000546507

Cansu Koc, Yaprak Ece Yola Atalah, Sedat Bayrakoglu, Melek Yildiz, Semen Onder, Gulcin Yegen, Basak Erginel, Nihat Aksakal, Yasemin Giles, Asli Derya Kardelen, Sukran Poyrazoglu, Firdevs Bas, Feyza Darendeliler

{"title":"Exploring the Heterogeneity of Pediatric Neuroendocrine Tumors: Single-Center Experience.","authors":"Cansu Koc, Yaprak Ece Yola Atalah, Sedat Bayrakoglu, Melek Yildiz, Semen Onder, Gulcin Yegen, Basak Erginel, Nihat Aksakal, Yasemin Giles, Asli Derya Kardelen, Sukran Poyrazoglu, Firdevs Bas, Feyza Darendeliler","doi":"10.1159/000546507","DOIUrl":"10.1159/000546507","url":null,"abstract":"Introduction: Neuroendocrine tumors (NETs) are rare, slow-growing tumors with distinct clinical manifestations that can be challenging to diagnose and treat, particularly in children. This retrospective study aimed to improve the diagnosis and treatment of NETs by evaluating their clinical course, hormonal activity, and long-term effects in children.Methods: A retrospective study was conducted on 26 pediatric patients diagnosed with NETs between 2000 and 2024. The cohort included patients with pheochromocytoma and paraganglioma (PPGL), gastroenteropancreatic neuroendocrine tumors (GEP-NETs), medullary thyroid carcinoma (MTC), and C-cell hyperplasia. The data included demographic, clinical, laboratory, and imaging results.Results: The study cohort included 26 patients (57.6% male). The median age for diagnosis of NETs was 8.8 (range: 1.0-16.6) years. Among the NETs, 15.4% were GEP-NETs, 15.4% were PPGL, 15.4% were C-cell hyperplasia, and 53.8% were MTC. The median follow-up was 5 (range: 1-14) years. Among the patients in the study cohort, only 1 patient died due to MTC. Genetic analysis revealed mutations in the RET gene in 69.2% of patients, mutations in the VHL gene in 3.8%, and no mutations in 3.8%. 23% of the patients did not undergo genetic testing.Conclusion: Early diagnosis, genetic screening, and long-term follow-up are crucial in managing pediatric NETs to reduce morbidity and mortality. Genetic testing is essential for identifying comorbidities and screening family members at risk.","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-8"},"PeriodicalIF":2.6,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110377","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}

引用次数: 0

Type 1 Diabetes Polygenic Scores Improve Diagnostic Accuracy in Pediatric Diabetes Care. 1型糖尿病多基因评分提高儿童糖尿病诊断准确性

IF 2.7 3区医学

Hormone Research in Paediatrics Pub Date : 2025-05-20 DOI: 10.1159/000546445

Raymond J Kreienkamp, Aaron J Deutsch, Alicia Huerta-Chagoya, Erin M Borglund, Jose C Florez, Jason Flannick, Miriam S Udler

{"title":"Type 1 Diabetes Polygenic Scores Improve Diagnostic Accuracy in Pediatric Diabetes Care.","authors":"Raymond J Kreienkamp, Aaron J Deutsch, Alicia Huerta-Chagoya, Erin M Borglund, Jose C Florez, Jason Flannick, Miriam S Udler","doi":"10.1159/000546445","DOIUrl":"10.1159/000546445","url":null,"abstract":"Introduction: Accurately classifying pediatric diabetes can be challenging for providers, and misclassification can result in suboptimal care. In recent years, type 1 diabetes (T1D) polygenic scores, which quantify one's genetic risk for T1D based on T1D risk allele burden, have been developed with good discriminating capacity between T1D and not-T1D. These tools have the potential to improve significantly diagnostic provider accuracy if used in clinic.Methods: We applied T1D polygenic scores to a group of pediatric patients (n = 1,846) with genetic data available in the Boston Children's Hospital PrecisionLink Biobank, including 96 individuals diagnosed with T1D.Results: Patients with a clinical diagnosis of T1D had higher T1D polygenic scores compared to controls (Wilcoxon rank-sum p < 0.0001). Sixty-nine of the 74 individuals with diabetes and a T1D polygenic score exceeding an externally validated cutoff for distinguishing T1D from not-T1D were confirmed to have T1D. There were multiple cases where T1D polygenic scores would have clinical utility. An elevated T1D polygenic score suggested T1D in a pancreatic autoantibody (PAA)-negative individual with negative maturity-onset diabetes of the young (MODY) genetic testing and a phenotype matching T1D. A low T1D polygenic score accurately indicated atypical diabetes in an individual found to have HNF1B-MODY. One individual had positive PAA, but the provider noted that the patient may not have classic T1D, as later suggested by a low T1D polygenic score.Conclusion: T1D polygenic scores already have clinical utility to aid in the accurate diagnosis of pediatric diabetes. Efforts are now needed to advance their use in clinical practice.","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-9"},"PeriodicalIF":2.7,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12353939/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110463","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}

引用次数: 0

Obesity in Childhood and Adolescence: Epidemiology and Financial Implications. 儿童和青少年肥胖：流行病学和经济意义。

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-05-20 DOI: 10.1159/000546506

Konstantinos Zisis, Kostas Athanasakis

{"title":"Obesity in Childhood and Adolescence: Epidemiology and Financial Implications.","authors":"Konstantinos Zisis, Kostas Athanasakis","doi":"10.1159/000546506","DOIUrl":"10.1159/000546506","url":null,"abstract":"Background: Childhood obesity is a growing global health concern with significant epidemiological and economic consequences. This study aimed to provide an overview of the prevalence, socioeconomic determinants, and financial burden of childhood obesity, emphasizing its impact on healthcare systems and society.Summary: A non-systematic targeted literature review was conducted using PubMed and institutional sources such as the World Health Organization (WHO), Centers for Disease Control and Prevention (CDC), and Organization for Economic Co-Operation and Development (OECD). Two independent reviewers screened and extracted relevant data, which were categorized into three domains: epidemiology (prevalence and trends), socioeconomic determinants (income, education, ethnicity, and family factors), and economic impact (direct, indirect, and intangible costs). Findings show that childhood obesity prevalence has been rising globally, with higher rates observed in high-income countries. Socioeconomic disparities play a crucial role, with lower-income families and certain ethnic groups experiencing higher obesity rates. Direct costs include increased medical expenses due to obesity-related comorbidities, while indirect costs result from productivity losses and long-term healthcare needs. Intangible costs, such as psychological distress and reduced quality of life, further highlight the burden of childhood obesity. Economic evaluations indicate that childhood obesity leads to substantial healthcare expenditures and productivity losses over a lifetime, emphasizing the need for early intervention.Key messages: Childhood obesity imposes a significant public health and economic burden, necessitating urgent policy interventions. A multi-sectoral approach, including public health strategies, socioeconomic support, and cost-effective interventions, is essential to mitigate its impact.","PeriodicalId":13025,"journal":{"name":"Hormone Research in Paediatrics","volume":" ","pages":"1-6"},"PeriodicalIF":2.6,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144110461","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}

引用次数: 0

Co-Occurrence of Dysembryoplastic Neuroepithelial Tumor and Hodgkin Lymphoma in a Patient with Noonan Syndrome and Mutation in the PTPN11 Gene. Noonan综合征患者并发DNET和霍奇金淋巴瘤，PTPN11基因突变。

IF 2.6 3区医学

Hormone Research in Paediatrics Pub Date : 2025-05-17 DOI: 10.1159/000546262

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

{"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":"Introduction: 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.Case presentation: 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.Conclusion: 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.","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}

引用次数: 0