Journal of Pediatric Endocrinology & Metabolism最新文献_第3页

Evaluation of continuous glucose monitoring and nutritional status in glycogen storage diseases. 糖原储存病患者连续血糖监测及营养状况的评价。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-03-10 DOI: 10.1515/jpem-2024-0597

Burcu Kumru Akin, Emine Goksoy

{"title":"Evaluation of continuous glucose monitoring and nutritional status in glycogen storage diseases.","authors":"Burcu Kumru Akin, Emine Goksoy","doi":"10.1515/jpem-2024-0597","DOIUrl":"https://doi.org/10.1515/jpem-2024-0597","url":null,"abstract":"Objectives: The primary goal in managing glycogen storage disorders (GSD) is to implement dietary therapy through regular glucose monitoring while attempting to prevent complications. Self-monitoring of blood glucose is often insufficient for detecting asymptomatic hypoglycemia in patients. Therefore, Continuous glucose monitoring systems (CGMS) play a crucial role in identifying hypoglycemic episodes and providing detailed glucose profiles throughout the day. In this study, CGMS data, laboratory findings, and daily nutritional intake were examined in patients with GSDIa and GSDIII. The lack of similar studies in GSDIII patients in the literature highlights the need for further research in this field.Methods: The glucose profiles of 12 patients (7 GSDIa and 5 GSDIII) were analyzed over a 72 h period using CGMS. Nutritional intake, biochemical parameters, and growth parameters were also evaluated.Results: This study demonstrated that CGMS detected both hypoglycemia (<70 mg/dL) and hyperglycemia (>150 mg/dL) in GSD patients. Growth retardation was also observed in these patients. As complications of the disease, elevated levels of liver enzymes, cholesterol, triglycerides, and creatine kinase were identified, with fatty liver and hepatomegaly detected in all patients. The patients' nutritional intake is similar to the recommendations in disease-specific treatment guidelines.Conclusions: The primary dietary treatment goal for GSD patients is to maintain normoglycemia. Patients may experience asymptomatic low glucose and/or asymptomatic hypoglycemic episodes during treatment. CGMS enables a more detailed monitoring of glucose profiles, which not only facilitates the precise adjustment of dietary therapy based on detailed results but also helps prevent complications associated with the disease.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143587930","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

Physical activity and vitamin D in children: a review of impacts on bone health and fitness. 儿童体育活动和维生素D：对骨骼健康和健康影响的综述。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-03-04 DOI: 10.1515/jpem-2024-0527

Chandra Sekhar Devulapalli

{"title":"Physical activity and vitamin D in children: a review of impacts on bone health and fitness.","authors":"Chandra Sekhar Devulapalli","doi":"10.1515/jpem-2024-0527","DOIUrl":"https://doi.org/10.1515/jpem-2024-0527","url":null,"abstract":"Objectives: This review explores the relationship between physical activity and serum 25-hydroxyvitamin D (25(OH)D) levels in children and adolescents, highlighting the importance of vitamin D for bone health and muscle function.Content: A narrative mini review was conducted by searching PubMed, Google Scholar, and Scopus for studies published from January 2000 to April 2024, focusing on children aged 5-18 years. Ten studies were reviewed, including five cross-sectional, three population-based, one longitudinal, and one randomized controlled trial. Overall, physically active children and teens were more likely to maintain sufficient 25(OH)D levels and demonstrated better physical fitness, especially in muscle strength, compared to their less active peers. One study linked higher vitamin D levels to increased bone mineral content in active adolescents, while another reported a positive connection between vitamin D and bone density. Risk factors for deficiency included limited sun exposure, low physical activity, sedentary behavior, and obesity, with the latter group being more prone to low vitamin D levels, which were negatively associated with fat mass. Interventions that increased physical activity were found to improve vitamin D levels.Summary and outlook: Regular physical activity, especially outdoor exercise, is associated with healthier vitamin D levels in children, supporting better bone health and physical fitness.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143538038","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

Medium-chain acyl-CoA dehydrogenase deficiency in North Macedonia - ten years experience. 北马其顿中链酰基辅酶a脱氢酶缺乏症-十年经验。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-03-03 DOI: 10.1515/jpem-2024-0537

Violeta Anastasovska, Mirjana Kocova, Nikolina Zdraveska, Tine Tesovnik, Maruša Debeljak, Jernej Kovač

{"title":"Medium-chain acyl-CoA dehydrogenase deficiency in North Macedonia - ten years experience.","authors":"Violeta Anastasovska, Mirjana Kocova, Nikolina Zdraveska, Tine Tesovnik, Maruša Debeljak, Jernej Kovač","doi":"10.1515/jpem-2024-0537","DOIUrl":"https://doi.org/10.1515/jpem-2024-0537","url":null,"abstract":"Objectives: Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid oxidation, with potentialy fatal outcome. Early diagnosis of MCADD by acylcarnitine analysis on newborn screening using tandem mass spectrometry can potentially reduce morbidity and mortality. In this study, we evaluate the prevalence and genetic background of MCADD in North Macedonia.Methods: Medium chain length acylcarnitines, were measured on newborn screening blood spot cards by tandem mass spectrometry. The molecular diagnosis was performed by whole exome sequencing of the ACADM gene, and detected mutations were confirmed with Sanger sequencing in all neonates with positive MCAD screening markers, and their parents as well.Results: A total of 52,942 newborns were covered by metabolic screening during the period May 2014-May 2024. 11 unrelated Macedonian neonates were detected with positive MCADD screening markers, and prevalence of 1/4,813 live births was estimated. Molecular analysis of the ACADM gene showed that c.985A>G was the most prevalent mutation occurred on 77.27 % of the alleles, while 18.18 % alleles carried c.244dupT pathogenic variant. Seven patients were homozygous for c.985A>G (63.6 %) while one was homozygous for c.244dupT (9.1 %) variant. Two patients were compound heterozygotes with c.985A>G/c.244dupT genotype (18.2 %), and one patient had c.985A>G allele without detection of the second ACADM mutant allele.Conclusions: The NBS estimated prevalence of MCADD in Macedonian population was more frequent than in the other European population and worldwide incidence in general. This is the first report of the genetic background of MCADD in North Macedonia.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143538034","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

Retrospective assessment of hepatic involvement in patients with inherited metabolic disorders: nine-year single-center experience. 遗传性代谢障碍患者肝脏受累的回顾性评估：9年单中心经验。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-02-25 DOI: 10.1515/jpem-2024-0511

Samira Bayramova, Merve Koç Yekedüz, Engin Köse, Fatma Tuba Eminoğlu

{"title":"Retrospective assessment of hepatic involvement in patients with inherited metabolic disorders: nine-year single-center experience.","authors":"Samira Bayramova, Merve Koç Yekedüz, Engin Köse, Fatma Tuba Eminoğlu","doi":"10.1515/jpem-2024-0511","DOIUrl":"10.1515/jpem-2024-0511","url":null,"abstract":"Objectives: This study aimed to identify clinical, laboratory, and radiological features that could serve as red flags for diagnosing inherited metabolic disorders (IMDs) with hepatic involvement in childhood.Methods: We retrospectively reviewed the medical records of 1,237 children from a pediatric metabolism department, with suspected or diagnosed IMDs. Patients with hepatic involvement were divided into two groups: Group 1 (diagnosed with IMDs) and Group 2 (undiagnosed). Demographic, clinical, laboratory, and radiological data were compared between the groups.Results: Hepatic involvement was observed in 415 patients (33.5 %), with 206 (49.2 %) diagnosed with IMDs. Group 1 had higher rates of consanguineous marriage and affected siblings. Complex molecule disorders (20.4 %), mitochondrial (16.0 %), and lipid metabolism disorders (16.0 %) were the most common IMDs. Dysmorphic findings were more frequent in Group 1 (28.2 vs. 16.3 %, p=0.004), while diarrhea was less common (4.4 vs. 12.0 %, p=0.005). Ammonia and lactate levels were higher in Group 1 (p<0.001 and p=0.032, respectively). Hepatomegaly was more frequent in Group 1 (53.3 vs. 22.6 %, p<0.001). Pathological abdominal ultrasonography was the only significant multivariate predictor (OR: 89.377, p=0.026). Overall survival was 87.7 %, with no difference between groups.Conclusions: Consanguineous marriage, affected siblings, dysmorphic findings, absence of diarrhea, and pathological abdominal USG are key predictors of IMDs in hepatic involvement cases.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143494325","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

Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K). 新生儿重症甲状旁腺功能亢进伴失活钙敏感受体（CaSR）突变（p.I81K）。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-01-23 DOI: 10.1515/jpem-2024-0569

Zeynep Donbaloglu, Merve Gullu, Suat Tekin, Gungor Karaguzel, Mesut Parlak, Hale Tuhan, Doga Turkkahraman

{"title":"Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K).","authors":"Zeynep Donbaloglu, Merve Gullu, Suat Tekin, Gungor Karaguzel, Mesut Parlak, Hale Tuhan, Doga Turkkahraman","doi":"10.1515/jpem-2024-0569","DOIUrl":"10.1515/jpem-2024-0569","url":null,"abstract":"Objectives: Neonatal severe hyperparathyroidism (NSHPT) is a rare condition characterized by inactivating mutations in the calcium-sensing receptor (CaSR) gene, leading to significant hypercalcemia and related complications.Case presentation: We present a case of a six-day-old male infant with weakness, jaundice, and hypotonia, later diagnosed with NSHPT due to a known homozygous CaSR mutation (c.242T>A; p.I81K). Initial laboratory findings revealed markedly elevated serum calcium levels and high parathyroid hormone levels which were compatible with primary hyperparathyroidism. After initial management, bisphosphonates were administered, resulting in the patient remaining normocalcemic for 11 months, although hyperparathyroidism persisted. Then, due to the ongoing hyperparathyroidism, cinacalcet was added and continued for nine months. Finally, a total parathyroidectomy was performed. Postoperatively, the patient developed hypoparathyroidism, necessitating long-term supplementation with calcium and calcitriol. By the last follow-up at 3 years, the patient exhibited normal growth parameters and no neurodevelopmental deficits.Conclusions: This case underscores the importance of early diagnosis and intervention in NSHPT and highlights the critical role of medical treatment, surgical management and long-term follow-up in optimising patient outcomes. Continued research is essential to enhance understanding and treatment strategies for NSHPT.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014946","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

Expanding the genotypic spectrum of 3β-hydroxy-δ5-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes. 扩大3β-羟基-δ5- c27 -类固醇脱氢酶（HSD3B7）缺乏症的基因型谱：新的突变和临床结果

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-01-14 DOI: 10.1515/jpem-2024-0454

Merve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, Sevinç Garip, Fatma Ilknur Varol, Şükrü Güngör, Didem Gulcu Taskin, Kanay Yararbaş

{"title":"Expanding the genotypic spectrum of 3β-hydroxy-δ5-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes.","authors":"Merve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, Sevinç Garip, Fatma Ilknur Varol, Şükrü Güngör, Didem Gulcu Taskin, Kanay Yararbaş","doi":"10.1515/jpem-2024-0454","DOIUrl":"https://doi.org/10.1515/jpem-2024-0454","url":null,"abstract":"Objectives: HSD3B7 deficiency is a genetic disorder caused by mutations in the HSD3B7 gene, leading to impaired bile acid synthesis and the accumulation of toxic intermediates. Affected patients typically present with cholestatic liver disease, including jaundice and progressive liver dysfunction.Case presentation: This case series describes three pediatric patients from two families diagnosed with HSD3B7 deficiency, each demonstrating varying clinical severity and outcomes. All cases exhibited cholestasis with normal GGT levels and elevated AST/ALT. Case 1, a male infant, also presented with craniosynostosis and failure to thrive, responding well to cholic acid therapy. Case 2, a female infant and first cousin of Case 1, had mild cardiac abnormalities and showed slight improvement with ursodeoxycholic acid and vitamin supplementation. Case 3, a male infant with a compound HSD3B7 and ATP8B1 mutation, progressed to fulminant liver failure, ultimately requiring a liver transplant. A novel c.531 + 1G>C variant was identified in Cases 1 and 2, contributing to understanding genotype-phenotype correlations in bile acid synthesis disorders.Conclusions: Early diagnosis and treatment with bile acid therapy are crucial for improving outcomes, although some cases may necessitate liver transplantation. This series emphasizes the need to consider bile acid synthesis disorders in the differential diagnosis of cholestasis.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973063","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

Clinical manifestations and molecular genetics of seven patients with Niemann-Pick type-C: a case series with a novel variant. 7例尼曼-匹克c型患者的临床表现和分子遗传学：一个新的变异病例系列。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2025-01-10 DOI: 10.1515/jpem-2024-0530

Cemre Kara, Engin Köse, Fatma Tuba Eminoğlu

{"title":"Clinical manifestations and molecular genetics of seven patients with Niemann-Pick type-C: a case series with a novel variant.","authors":"Cemre Kara, Engin Köse, Fatma Tuba Eminoğlu","doi":"10.1515/jpem-2024-0530","DOIUrl":"10.1515/jpem-2024-0530","url":null,"abstract":"Objectives: Niemann-Pick type C (NPC) is a rare, autosomal recessive, neurodegenerative disorder caused by biallelic pathogenic variants in the NPC1 or NPC2 genes, leading to lysosomal lipid accumulation. NPC has an incidence of 1 in 100,000 live births and presents with a wide range of symptoms affecting visceral organs and the central nervous system. We aim to describe the diverse clinical presentations of NPC through case studies.Case presentation: We report seven NPC patients from five families, showcasing the variability in clinical manifestations. The most common finding was hepatosplenomegaly (70 %), followed by prolonged jaundice (57 %) and neonatal cholestasis. Pulmonary alveolar proteinosis (PAP) was observed in three patients with biallelic pathogenic variants in the NPC2 gene. Neurological symptoms, including vertical gaze palsy and epilepsy, were noted in patients with juvenile onset form. Genetic analyses identified a novel homozygous c.315del (p.Thr106ProfsTer5) variant in the NPC2 gene, associated with early infantile onset.Conclusions: NPC presents with diverse clinical findings across ages. Early hepatic symptoms in infants and neuropsychiatric issues in older patients warrant a high index of suspicion for NPC in such cases. A multidisciplinary approach is crucial for patient management, and further research is needed to clarify genotype-phenotype relationships in NPC.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142957901","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 effect of phlebotomy and placement of an intravenous catheter on plasma catecholamine and serum copeptin concentrations. 放血和静脉置管对血浆儿茶酚胺和血清copeptin浓度的影响。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-12-18 Print Date: 2025-02-25 DOI: 10.1515/jpem-2024-0422

Shruti Sastry, Emir Tas, Domenic Filingeri, Erika McCann, Rahul Amruthapuri, Michael J McPhaul, Luigi Garibaldi

{"title":"The effect of phlebotomy and placement of an intravenous catheter on plasma catecholamine and serum copeptin concentrations.","authors":"Shruti Sastry, Emir Tas, Domenic Filingeri, Erika McCann, Rahul Amruthapuri, Michael J McPhaul, Luigi Garibaldi","doi":"10.1515/jpem-2024-0422","DOIUrl":"10.1515/jpem-2024-0422","url":null,"abstract":"Objectives: Limited data are available on the hormonal response of children to venepuncture or intravenous cannulation (IVC). Catecholamines (epinephrine (E) and norepinephrine (NE)) have been traditionally recognized as stress hormones. Copeptin, the carboxyl-terminus of the arginine vasopressin (AVP) precursor peptide, is also a known marker for stressful stimuli, including myocardial infarction, critical illness, and sepsis. We aimed to measure the above stress markers in response to IVC in the pediatric population.Methods: We measured plasma E, NE and serum copeptin concentrations in 100 children aged 5-17 years undergoing endocrine testing. Labs were drawn 1-3 min (min) after placement of IV cannula (baseline or 0 min) and then re-measured 20 min later (+20 min) while subjects rested in a quiet room.Results: Between 0 and 20 min, the median (IQR) NE (n=99) changed from 349 (244, 482) pg/mL to 253 (184, 348) pg/mL (p<0.001); E (n=54) changed from 57 (43, 116) pg/mL to 57 (38, 96) pg/mL (p=0.024); Copeptin changed from 9.4 (6.3, 15.2) pmol/L to 9 (5, 13) pmol/L (p<0.001). The mean decrease (delta) was 106 pg/mL for NE (28 %, p<0.001), 16 pg/mL for E (18 %, p=0.042) and 2.7 pmol/L for copeptin (17 %, p=0.012). There was no correlation between the decrease (expressed as a percentage) in NE vs. E, E vs. copeptin, and NE vs. copeptin.Conclusions: Our data suggest that the stress of IVC induces a rapid increase in NE, E, as previously described, as well as copeptin levels. The copeptin decrement, concordant with the catecholamine trend in the minutes after IVC, supports this peptide (and AVP) as a rapid response marker of stress, and has unclear practical implications for copeptin measurements in evaluating fluid and sodium metabolism disorders in children.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"110-115"},"PeriodicalIF":1.3,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142840112","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

Immune checkpoint inhibitors and endocrinopathies in pediatric brain tumor patients. 儿童脑肿瘤患者的免疫检查点抑制剂和内分泌病变。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-12-16 Print Date: 2025-01-29 DOI: 10.1515/jpem-2024-0243

Carly R Westermann, Tom B Davidson, Kaaren Waters, Ashley S Margol, Clement C Cheung

{"title":"Immune checkpoint inhibitors and endocrinopathies in pediatric brain tumor patients.","authors":"Carly R Westermann, Tom B Davidson, Kaaren Waters, Ashley S Margol, Clement C Cheung","doi":"10.1515/jpem-2024-0243","DOIUrl":"10.1515/jpem-2024-0243","url":null,"abstract":"Objectives: Immune checkpoint inhibitors (ICIs) are emerging treatment options for children with brain tumors, who are already at risk for developing endocrinopathies due to tumor location and treatment. Endocrine ICI-related adverse effects (irAEs) are common in adults but poorly characterized in the pediatric population. The aims of this study were to determine in pediatric brain tumor patients in a single institution (1) if endocrine surveillance took place before and after ICIs were initiated, and (2) the occurrence of endocrine irAEs.Methods: This is a retrospective chart review of 22 pediatric brain tumor patients treated with ICIs at Children's Hospital Los Angeles between 2010 and 2022. We analyzed endocrine laboratory results, patient demographics, and treatment course.Results: Most patients (82 %) received surveillance in at least one endocrine system before ICI treatment - all had thyroid function tested (100 %) whereas non-thyroid endocrine functions were seldomly assessed (6-22 %). Only those patients with surveillance prior to treatment had ongoing surveillance after ICI initiation - 100 % for thyroid function and 17-39 % for other endocrine systems. Hypothyroidism was the only endocrine problem diagnosed after ICI initiation, in two patients (9 %). Of note, most patients (68 %) expired during or shortly after ICI treatment.Conclusions: This is one of the first institutional surveys of pediatric ICIs in a high-volume pediatric brain tumor center. Thyroid surveillance commonly occurred in pediatric patients, revealing diagnoses of hypothyroidism, which is consistent with adult data. However, little information is available for non-thyroid endocrine conditions, reflecting the need for comprehensive and systematic endocrine surveillance.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"58-64"},"PeriodicalIF":1.3,"publicationDate":"2024-12-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11832116/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142830673","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"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

Nephrogenic diabetes insipidus results from a novel in-frame deletion of AVPR2 gene in monozygotic-twin boys and their mother and grandmother. 肾源性尿囊症是由同卵双胞胎男孩及其母亲和祖母的AVPR2基因框内缺失引起的。

IF 1.3 4区医学

Journal of Pediatric Endocrinology & Metabolism Pub Date : 2024-12-10 Print Date: 2025-02-25 DOI: 10.1515/jpem-2024-0301

Shengfang Qin, Zemin Luo, Jin Wang, Xueyan Wang, Ximin Chen, Mengling Ye, Xiangyou Leng

{"title":"Nephrogenic diabetes insipidus results from a novel in-frame deletion of AVPR2 gene in monozygotic-twin boys and their mother and grandmother.","authors":"Shengfang Qin, Zemin Luo, Jin Wang, Xueyan Wang, Ximin Chen, Mengling Ye, Xiangyou Leng","doi":"10.1515/jpem-2024-0301","DOIUrl":"10.1515/jpem-2024-0301","url":null,"abstract":"Objectives: Mutations in the AVPR2 gene are the most common cause of nephrogenic diabetes insipidus (NDI). In-frame deletions of the AVPR2 gene are a rare variant that results in NDI. We report a novel variant of the p.H138del in an NDI family with twin male patients and three female carriers of different clinical phenotypes.Methods: The proband's blood genome was sequenced with a panel, and the variants were classified according to ACMG/AMP (2015) guidelines. X chromosome inactivation (XCI) was analyzed in the peripheral blood of his mother, grandmother, and maternal aunt, respectively. The haplotypes of the X chromosome were determined using their STR loci.Results: A novel in-frame deletion in the AVPR2 gene was detected in monozygotic-twin boys, and his mother, grandmother, and maternal aunt were heterozygous carriers. The two boys showed typical NDI, and their mother and grandmother presented polydipsia, polydipsia, and polyuria, but the maternal aunt did not have similar symptoms. The blood XCI results of the mother, grandmother, and maternal aunt showed random inactivation (36.18 , 48.37, and 49.30 %, respectively). The X haplotype indicated that the variant of the mother and grandmother was on their activated X chromosomes(Xa), while the maternal aunt's variant was on her inactivated X chromosome(Xi).Conclusions: In-frame deletion of the AVPR2 gene within its functional domain can significantly affect protein function, which is one of the vital causes of NDI. The clinical variability of female carriers of AVPR2 is associated with underlying environmental and epigenetic factors or complex recombination of the X chromosomes.","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":"162-171"},"PeriodicalIF":1.3,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142796244","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