Journal of Pediatric Endocrinology & Metabolism最新文献

The changing landscape in the evaluation of hypotonic polyuria in children and adolescents: the role of the new copeptin stimulation tests. 儿童和青少年低渗多尿评价的变化：新的copeptin刺激试验的作用。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-05-23 DOI: 10.1515/jpem-2025-0046

Luigi R Garibaldi, Shruti Sastry, Michael J McPhaul, Christine A March

{"title":"The changing landscape in the evaluation of hypotonic polyuria in children and adolescents: the role of the new copeptin stimulation tests.","authors":"Luigi R Garibaldi, Shruti Sastry, Michael J McPhaul, Christine A March","doi":"10.1515/jpem-2025-0046","DOIUrl":"https://doi.org/10.1515/jpem-2025-0046","url":null,"abstract":"Hypotonic polyuria, also known as the polyuria-polydipsia syndrome (PPS), caused by primary polydipsia (PP), arginine vasopressin deficiency (AVP-D or central diabetes insipidus), or uncommonly by AVP resistance (AVP-R), is diagnostically challenging due to overlapping symptoms and the need to conclusively diagnose or exclude AVP-D caused by serious organic lesions of the central nervous system. Diagnostic tests that stimulate AVP secretion by increasing plasma osmolality include the water deprivation test (WDT) and the hypertonic saline test (HST). The WDT, considered the gold standard for evaluating PPS in children, has suboptimal diagnostic accuracy, is burdensome, and requires hospitalization. The HST has been used rarely in children due to safety concerns and need for intensive monitoring. The finding that some anterior pituitary stimulating agents also stimulate the posterior pituitary, and the availability of a robust serum/plasma assay for copeptin as a reliable surrogate of AVP, has allowed development of nonosmotic, copeptin/AVP stimulation tests. In the present review, we focus on these new copeptin stimulation tests, which include single stimuli with intravenous (IV) arginine, IV insulin, intramuscular glucagon, oral levodopa, and double stimuli (IV arginine-insulin or AITT; IV arginine and oral Levodopa/carbidopa or ALD-ST), which we have previously shown to induce very robust copeptin secretion. Specifically, the ALD-ST differentiated AVP-D from PP in 20 children with high diagnostic accuracy at a cutoff stimulated copeptin of 9.3 pmol/L. We propose the utilization of the outpatient ALD-ST in the early stages of PPS evaluation in children, given its safety, cost-effectiveness, and limited side effects.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144152664","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Sunlight, supplements, and science: vitamin D as a tool for pediatric health care. 阳光，补充剂和科学：维生素D作为儿科保健的工具。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-05-23 DOI: 10.1515/jpem-2025-0246

Clemens Kamrath, Anna Kirstein

引用次数: 0

Relationship between blood lipids and bone mineral density in healthy preschoolers: a 12-month cohort study. 健康学龄前儿童血脂与骨密度的关系：一项为期12个月的队列研究

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-05-22 DOI: 10.1515/jpem-2024-0600

Xueqian Mao, Xueyi Jin, Ying Hu, Panpan He, Qianwen Yang, Zhiwei Zhang, Lipeng Jing

{"title":"Relationship between blood lipids and bone mineral density in healthy preschoolers: a 12-month cohort study.","authors":"Xueqian Mao, Xueyi Jin, Ying Hu, Panpan He, Qianwen Yang, Zhiwei Zhang, Lipeng Jing","doi":"10.1515/jpem-2024-0600","DOIUrl":"https://doi.org/10.1515/jpem-2024-0600","url":null,"abstract":"Objectives: A prospective study was conducted examining the association between blood lipid levels and bone mineral density in preschool-aged children.Methods: Healthy preschool-aged children (n=411) were included in this 12-month cohort study. The bone mineral density and bone mineral content of the non-dominant forearm and calcaneus were measured using dual-energy X-ray absorptiometry (DXA). Additionally, the children's fasting blood was drawn at baseline to measure blood lipids.Results: The sample comprised 411 healthy preschool-aged children, 208 girls and 203 boys, with a mean age of 4.80±0.70 years. After one year of observation, the bone mineral density of the non-dominant calcaneus in preschool children increased by 30.37 mg/cm2, bone mineral content increased by 29.85 mg, and triglyceride levels increased by 0.05 mmol/L. A significant inverse assocation was observed between serum triglyceride levels within the normal physiological range and the changes in bone mineral density (BMD) at the non-dominant calcaneus in preschool children, whereas no such association was detected with BMD changes in the non-dominant forearm. A 1 mmol/L increase in triglycerides within the physiological normal range was associated with a 6.73 mg/cm2 decrease in bone mineral density (95 % CI: -12.90, -0.56) and a 5.98 mg decrease in bone mineral content (95 % CI: -11.77, -0.19). There was no significant relationship between other lipids and bone mineral density.Conclusions: Serum triglyceride concentrations within the physiological normal range showed a significant negative correlation with the 12-month increment of calcaneal bone mineral density in preschool children (p<0.05).","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144152661","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Assessing prediabetes and cardiometabolic risk in Danish youth with obesity. 评估丹麦青少年肥胖的糖尿病前期和心脏代谢风险。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-05-22 DOI: 10.1515/jpem-2025-0095

Anna Katrine Gaul, Louise Aas Holm, Torben Hansen, Jens-Christian Holm, Cilius Esmann Fonvig

{"title":"Assessing prediabetes and cardiometabolic risk in Danish youth with obesity.","authors":"Anna Katrine Gaul, Louise Aas Holm, Torben Hansen, Jens-Christian Holm, Cilius Esmann Fonvig","doi":"10.1515/jpem-2025-0095","DOIUrl":"https://doi.org/10.1515/jpem-2025-0095","url":null,"abstract":"Objectives: To investigate how four different prediabetes definitions (by fasting plasma glucose (FPG), glycosylated haemoglobin (HbA1c), FPG-or-HbA1c, or FPG-and-HbA1c) affect prediabetes prevalence estimates and their association with cardiometabolic risk in Danish children and adolescents referred for tertiary obesity treatment.Methods: This cross-sectional study included 5-18-year-olds with BMI SDS above 1.28 and blood samples taken within 30 days of obesity treatment initiation. Anthropometric measurements, blood pressure, and blood samples were analysed to determine prediabetes prevalence and calculate odds ratios for hypertension, dyslipidaemia, abdominal obesity, high alanine aminotransferase (ALT), and BMI SDS ≥99th percentile.Results: Among 2,849 children and adolescents, prediabetes prevalence was 12.8 %, 6.6 %, 17.2 %, and 2.2 % when applying the FPG, HbA1c, FPG-or-HbA1c, and FPG-and-HbA1c definitions, respectively. Hypertension, dyslipidaemia, abdominal obesity, high ALT, and BMI SDS ≥99th percentile phenotypes were common, with increased prevalence among individuals with prediabetes defined from FPG-or-HbA1c. The FPG-derived definition of prediabetes was associated with hypertension and abdominal obesity, while the HbA1c-derived definition of prediabetes was associated with dyslipidaemia, high ALT, and BMI SDS ≥99th percentile. The strongest association was between the FPG-derived definition and hypertension.Conclusions: The FPG-derived definition identified more individuals with prediabetes than the HbA1c-derived definition. Children and adolescents with prediabetes defined from FPG-or-HbA1c exhibited a high burden of hypertension, dyslipidaemia, abdominal obesity, high ALT, and BMI SDS ≥99th percentile. No single diagnostic test proved superior, as each associated with different cardiometabolic risk factors.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144152708","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

The causal role of endocrine disrupting chemicals in pubertal timing: a Mendelian randomization study. 内分泌干扰化学物质在青春期时间中的因果作用：孟德尔随机研究。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-05-22 DOI: 10.1515/jpem-2025-0146

Melody Zuo, Isabel Gamache, Kaossarath Fagbemi, Felix R Day, Ken K Ong, Despoina Manousaki

{"title":"The causal role of endocrine disrupting chemicals in pubertal timing: a Mendelian randomization study.","authors":"Melody Zuo, Isabel Gamache, Kaossarath Fagbemi, Felix R Day, Ken K Ong, Despoina Manousaki","doi":"10.1515/jpem-2025-0146","DOIUrl":"https://doi.org/10.1515/jpem-2025-0146","url":null,"abstract":"Objectives: Endocrine disrupting chemicals (EDCs) interfere with hormonal homeostasis, and have been observationally linked to altered pubertal timing, defined by the age of menarche (AAM) in girls and the age at voice change (AVC) in boys. However, the causality of these associations remains unclear. We used Mendelian randomization (MR) to investigate if genetically altered serum EDC levels affect pubertal timing.Methods: We performed univariate MR to assess the effects of 22 EDCs on AAM and AVC, using the largest GWAS for EDCs as well as European and multi-ethnic GWAS on AAM and AVC. Multivariate MR (MVMR) and two-step MR were conducted to examine mediating effects of body mass index (BMI).Results: We found causal MR associations with AAM for three polychlorinated biphenyls (PCBs): PCB 74 (βIVW: -0.015, 95 % CI [-0.028, -0.003], p=0.014), PCB 194 (βIVW: -0.015, 95 % CI [-0.024, -0.007], p=3.27×10-4), and PCB 206 (βIVW: -0.024, 95 % CI [-0.041, -0.006], p=0.0068) and for dibutyl phthalate (DBP, βIVW: 0.006, 95 % CI [0.001, 0.010], p=0.013). One MR association was found with AVC for bisphenol A (BPA, βWald ratio= -0.032, 95 % CI [-0.044, -0.019], p=2.62×10-7). Mediation analyses by MVMR or Two-Step MR suggested BMI's mediating role in the associations of EDCs with AAM and AVC.Conclusions: Our findings indicate that exposure to specific PCBs leads to earlier AAM whereas exposure to DBP delays AAM. Exposure to BPA leads to earlier AVC, with BMI potentially acting as a mediator.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144152663","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Transition of care from childhood/adolescence to adulthood in familial hypercholesterolemia. 家族性高胆固醇血症患者从儿童期/青春期到成年期的护理过渡。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-05-06 DOI: 10.1515/jpem-2025-0127

Ariana Maia, Liliana Fonseca, Isabel Palma

引用次数: 0

Biological effects of recombinant human growth hormone therapy on metabolism in children with growth hormone deficiency: a review. 重组人生长激素治疗对生长激素缺乏症儿童代谢的生物学效应综述。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-05-06 DOI: 10.1515/jpem-2025-0057

Kamil Dyrka, Kamila Łachut, Zofia Kolesińska, Marek Niedziela, Monika Obara-Moszyńska

{"title":"Biological effects of recombinant human growth hormone therapy on metabolism in children with growth hormone deficiency: a review.","authors":"Kamil Dyrka, Kamila Łachut, Zofia Kolesińska, Marek Niedziela, Monika Obara-Moszyńska","doi":"10.1515/jpem-2025-0057","DOIUrl":"10.1515/jpem-2025-0057","url":null,"abstract":"Introduction: Recombinant human growth hormone (rhGH) therapy (GHT) for short stature resulting from growth hormone deficiency (GHD) is effective in promoting optimal growth velocity and achieving an appropriate final height. However, the specific metabolic changes in children during replacement GHT remain unclear.Content: The study aimed to evaluate the effects of GHT on metabolism in children with GHD. This is a review of the literature published at PubMed/MEDLINE between January 2010 and August 2024, including original articles. The authors searched Medline using the following keywords: growth hormone therapy in children OR growth hormone treatment in children AND metabolism OR glycemia OR glycated hemoglobin OR insulin OR lipid profile OR blood pressure OR bone mineral density OR body mass index OR waist circumference OR hip circumference OR waist-to-hip ratio OR lean body mass OR visceral fat OR muscle strength OR physical activity OR exercise.Summary and outlook: GHT in children positively affects the lipid profile and body composition. Nevertheless, rhGH treatment may increase fasting glucose, glycated hemoglobin, and indices of insulin resistance. GHT in children has not been associated with an increased risk of diabetes. No changes in blood pressure during GHT were observed. The results of our review show that GHT impacts lipid profiles, carbohydrate metabolism, and body composition. Further studies are needed to clarify the molecular mechanisms by which GH regulates substrate metabolism.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-05-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144062973","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Evaluating obesity and fat cells as possible important metabolic players in childhood leukemia. 评估肥胖和脂肪细胞在儿童白血病中可能的重要代谢参与者。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-04-29 DOI: 10.1515/jpem-2024-0448

Isabela Sallati, Julia Abend Bardagi, José Alexandre Mendonça, Giovanna R Degasperi

{"title":"Evaluating obesity and fat cells as possible important metabolic players in childhood leukemia.","authors":"Isabela Sallati, Julia Abend Bardagi, José Alexandre Mendonça, Giovanna R Degasperi","doi":"10.1515/jpem-2024-0448","DOIUrl":"10.1515/jpem-2024-0448","url":null,"abstract":"Introduction: The prevalence of overweight and obesity in childhood is a health challenge. This condition induces alterations in adipose tissue and metabolic disorders such as diabetes, dyslipidemia, and hypertension even in childhood and may also be associated with cancer development. Underlying mechanisms related to childhood cancer, such as leukemia and obesity, are not entirely understood.Content: Considering this scenario, a systematic literature review was performed on the PubMed library. Studies that evaluate the association between overweight or obesity at diagnosis of childhood leukemia and the outcomes associated with this condition were included.Summary: In some studies, a worse prognosis was observed in obese children compared to non-obese, which begs the question of how the adipose tissue environment may be involved with leukemia progression and its outcomes such as relapse, overall and event-free survival and infections.Outlook: Obesity in children diagnosed with leukemia may be associated with poor outcomes during disease progression as reported in some studies. The remodeling and composition of adipose tissue, alterations in adipocytokines secretion, such as leptin, and inflammation that may trigger awakened oncogenes seem to be important players in cancer development and outcomes during treatment. Understanding if there is any relationship between adipose tissue and the development of childhood leukemia and its prognosis, as well as the biological mechanisms of this scenario, is important to contribute to improving the treatment protocols and survival, especially in obese children.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144036940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Emergence of osteolysis as a new radiological feature in a case with a novel BMP2 gene variant. 在一个新的BMP2基因变异病例中出现骨溶解作为一个新的放射学特征。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-04-28 DOI: 10.1515/jpem-2025-0103

Suzan Süncak, Merve Berfin Aktan Karaca, Semra Gürsoy, Mehmet Kocabey, Korcan Demir, Fatma Ceren Sarıoğlu, Ayfer Ülgenalp, Özlem Giray Bozkaya

{"title":"Emergence of osteolysis as a new radiological feature in a case with a novel BMP2 gene variant.","authors":"Suzan Süncak, Merve Berfin Aktan Karaca, Semra Gürsoy, Mehmet Kocabey, Korcan Demir, Fatma Ceren Sarıoğlu, Ayfer Ülgenalp, Özlem Giray Bozkaya","doi":"10.1515/jpem-2025-0103","DOIUrl":"https://doi.org/10.1515/jpem-2025-0103","url":null,"abstract":"Objectives: Bone morphogenetic protein 2 (BMP2) is essential for endochondral ossification, skeletal development, and bone homeostasis. Monoallelic loss-of-function variants in BMP2 have been linked to short stature, facial dysmorphism, and skeletal anomalies, often accompanied by cardiac involvement. Here, we describe a 10-year-old girl with a novel heterozygous truncating BMP2 variant, presenting with distinct facial features, short stature, and skeletal abnormalities, notably osteolysis in the phalanges.Case presentation: The patient was initially evaluated at six months of age due to hypotonia and dysmorphic facial features. At 10 years old, she presented with short stature and skeletal radiographs revealed osteolysis in multiple phalanges. Additional clinical evaluations, including echocardiography and metabolic studies, were unremarkable. Whole-exome sequencing identified a de novo heterozygous truncating variant (c.440C>G; p.Ser147*) in BMP2.Conclusions: This report identifies a novel BMP2 nonsense variant and introduces osteolysis as a previously unrecognized phenotype. These findings highlight the necessity of longitudinal skeletal monitoring in BMP2-related conditions and underscore the importance of genetic evaluation in patients with subtle skeletal dysplasias to facilitate early diagnosis and management.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144059559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Pediatric iatrogenic Cushing's syndrome: a series of seven cases induced by topical corticosteroid use. 小儿医源性库欣综合征：局部使用皮质类固醇引起的一系列7例。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-04-28 DOI: 10.1515/jpem-2025-0032

Fatih Kilci, Emre Sarıkaya

{"title":"Pediatric iatrogenic Cushing's syndrome: a series of seven cases induced by topical corticosteroid use.","authors":"Fatih Kilci, Emre Sarıkaya","doi":"10.1515/jpem-2025-0032","DOIUrl":"https://doi.org/10.1515/jpem-2025-0032","url":null,"abstract":"Objectives: Cushing's syndrome (CS) in children is often caused by prolonged glucocorticoid use. Exogenous steroid administration, mainly oral and parenteral, commonly leads to iatrogenic CS, while topical corticosteroids' role is less recognized. Here, we present seven pediatric cases of iatrogenic CS linked to topical glucocorticoids, resulting in adrenal insufficiency.Case presentation: There were seven patients, aged 3-60 months, with diaper dermatitis (six patients) and scabies (one patient), all receiving topical clobetasol propionate for a median duration of 2 months (range: 0.5-3 months). Adrenal insufficiency was detected in all cases and treated with hydrocortisone at a median dose of 10 mg/m2/day (range: 7.5-50 mg/m2). One infant also had hypercalcemia. Clinical findings and anthropometric measurements normalized during follow-up, with a median hypothalamic-pituitary-adrenal axis recovery time of 6 months (range: 4-9 months).Conclusions: This study contributes valuable insights into the management of iatrogenic CS in pediatric patients and emphasizes the need for cautious prescribing practices to safeguard against adverse effects.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144045423","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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