Journal of Pediatric Endocrinology and Metabolism最新文献_第10页

Impact of Obesity on Bone Metabolism in Children 肥胖对儿童骨代谢的影响

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-04-11 DOI: 10.1515/jpem-2021-0714

H. Korkmaz, B. Özkan

引用次数: 2

Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution 儿童中一种新的PTRF/CAVIN1致病变异导致的先天性广泛性脂肪营养不良4型:美曲瘦素替代的影响

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-04-11 DOI: 10.1515/jpem-2022-0022

S. C. Adiyaman, Julia v.Schnurbein, J. de Laffolie, A. Hahn, R. Siebert, M. Wabitsch, C. Kamrath

{"title":"Congenital generalized lipodystrophy type 4 due to a novel PTRF/CAVIN1 pathogenic variant in a child: effects of metreleptin substitution","authors":"S. C. Adiyaman, Julia v.Schnurbein, J. de Laffolie, A. Hahn, R. Siebert, M. Wabitsch, C. Kamrath","doi":"10.1515/jpem-2022-0022","DOIUrl":"https://doi.org/10.1515/jpem-2022-0022","url":null,"abstract":"Abstract Objectives Congenital generalized lipodystrophies (CGLs) are a heterogeneous group of rare autosomal recessive disorders characterized by near/total absence of body fat. Pathogenic variants in polymerase-I and transcript release factor gene (PTRF), or CAVIN1, is responsible for CGL4. In addition to generalized fat loss, patients with CGL4 were reported to suffer from myopathy, malignant cardiac arrhythmias, gastrointestinal disorders, and skeletal abnormalities. Here we describe the phenotype of a child with CGL4 due to a rare, novel pathogenic variant in the PTRF/CAVIN1 gene and the long-term effects of metreleptin substitution on comorbidities. Case presentation We describe a now 20-year-old female patient. At the age of 14-years, she was referred to the University Clinic because of uncontrolled diabetes with an HbA1c of 9.3%, requiring 2.4 IU insulin/kg total-body-weight to normalize blood glucose, hepatomegaly, and hypertriglyceridemia of 515 mg/dL. Additionally, she was suffering from malignant cardiac arrhythmia, myopathy, and hyperCKemia. In light of these clinical findings, she was diagnosed with CGL due to a rare, novel variant in the PTRF gene, and was started on metreleptin, a synthetic analog of human leptin. After the initiation of metreleptin treatment, insulin therapy could be stopped and improvement of sonographically assessed liver size was observed, even though serum liver function test stayed mildly elevated. Furthermore, a noticeable improvement of the serum triglyceride levels was also seen. Medical care and regular follow-up visits are being carried out by a multi-disciplinary team. Conclusions Although CGL4 is rare, due to its life-threatening comorbidities and the opportunity for an early intervention, it is important that the clinicians should recognise these patients.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-04-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"84839321","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Frontmatter

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-03-31 DOI: 10.1515/jpem-2022-frontmatter4

引用次数: 0

Pediatric adrenal insufficiency: thirty years experience at a Portuguese hospital 小儿肾上腺功能不全:在葡萄牙医院三十年的经验

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-03-30 DOI: 10.1515/jpem-2021-0725

S. Mosca, T. Santos, A. Mendes, Luís F. M. Ribeiro, Joana Freitas, Maria J. R. Oliveira, C. Rocha, Teresa M. S. Borges

{"title":"Pediatric adrenal insufficiency: thirty years experience at a Portuguese hospital","authors":"S. Mosca, T. Santos, A. Mendes, Luís F. M. Ribeiro, Joana Freitas, Maria J. R. Oliveira, C. Rocha, Teresa M. S. Borges","doi":"10.1515/jpem-2021-0725","DOIUrl":"https://doi.org/10.1515/jpem-2021-0725","url":null,"abstract":"Abstract Background Adrenal insufficiency (AI) is a life-threatening condition caused by an impaired secretion of the adrenal glucocorticoid and mineralocorticoid hormones. It comprises a heterogeneous group of primary, secondary and acquired disorders. Presentation differs according to the child’s age, but it usually presents with nonspecific and insidious symptoms and signs. The main purpose of this study was to describe and compare patients with primary or secondary AI. Methods Retrospective analysis of all patients with adrenal insufficiency followed at the Pediatric Endocrinology Unit in a tertiary care Portuguese hospital over the last 30 years. Data on family history, age at the first manifestation and at etiological diagnosis, and clinical presentation (symptoms, signs and laboratory evaluation) was gathered for all patients. Results Twenty-eight patients with AI were included; 67.9% were male, with a median (25th–75th percentile, P25–P75) age of 1 (0.5–36) month at the first presentation. The principal diagnostic categories were panhypopituitarism (42.9%) and congenital adrenal hyperplasia (25%). The most frequent manifestations (75%) were vomiting and weight loss. They were followed for a median (P25–P75) period of 3.5 (0.6–15.5) years. In respect to neurodevelopmental delay and learning difficulties, they were more common in the secondary AI group. Conclusions Despite medical advances, the diagnosis and management of AI remains a challenge, particularly in the pediatric population, and clinicians must have a high index of suspicion. An early identification of AI can prevent a potential lethal outcome, which may result from severe cardiovascular and hemodynamic instability.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85651318","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 1

Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene 土耳其儿童家族性早发性肥胖:黑素皮质素-4受体(MC4R)基因的变异和多态性

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-03-30 DOI: 10.1515/jpem-2021-0756

H. Kırmızıbekmez, Yasemin Kendir Demirkol, Özlem Akgün Doğan, Gülcan Seymen, Elif İnan Balcı, Pınar Atla, F. Dursun

{"title":"Familial early-onset obesity in Turkish children: variants and polymorphisms in the melanocortin-4 receptor (MC4R) gene","authors":"H. Kırmızıbekmez, Yasemin Kendir Demirkol, Özlem Akgün Doğan, Gülcan Seymen, Elif İnan Balcı, Pınar Atla, F. Dursun","doi":"10.1515/jpem-2021-0756","DOIUrl":"https://doi.org/10.1515/jpem-2021-0756","url":null,"abstract":"Abstract Objectives Genetic factors have a key role in childhood obesity with higher rates in children than adults. Among the monogenic types of non-syndromic obesity, melanocortin-4 receptor (MC4R) deficiency is the most frequent cause. Beside pathogenic variants, single-nucleotide polymorphisms in MC4R gene are also associated with lower energy expenditure. The aim of this study was to estimate the frequency of MC4R variants and polymorphisms in a cohort of Turkish children and adolescents with severe early-onset obesity, and to understand the clinical features of patients. Methods Patients, 1–17 years of age, with the onset of obesity before 10 years of age and a body mass index (BMI) standard deviation score (SDS) of >2.3, and who had a family history of early-onset obesity in at least one of their first-degree relatives were included in the study. Beside routine blood tests genetic analyses for MC4R gene were performed. Results Analyses of MC4R revealed previously known variations in three (3.5%) patients, and pathogenic polymorphisms related with obesity in four (4.7%) patients. BMI SDS values were between 2.8 and 5.5 SDS in the pathogenic variant carrier group, and 2.8–4.9 SDS in the polymorphism group. Mean BMI SDS in variant-negative group was 3.4 ± 0.82. Conclusions Investigation of the MC4R in individuals with early-onset obesity and presence of obesity first-degree relatives is important. Hypertension is a rare comorbidity compared to other causes. Contrary to studies reporting that insulin resistance was absent or very rare, we found it as a frequent finding in both pathogenic variants and polymorphisms of MC4R.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"72956265","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey. 土耳其苯丙氨酸羟化酶缺乏症患者的 PAH 基因突变谱及基因型与表型的相关性。

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-03-30 Print Date: 2022-05-25 DOI: 10.1515/jpem-2022-0047

Müge Çınar, Gonca Kılıç Yıldırım, Sinem Kocagil, Oğuz Çilingir

{"title":"Spectrum of PAH gene mutations and genotype-phenotype correlation in patients with phenylalanine hydroxylase deficiency from Turkey.","authors":"Müge Çınar, Gonca Kılıç Yıldırım, Sinem Kocagil, Oğuz Çilingir","doi":"10.1515/jpem-2022-0047","DOIUrl":"10.1515/jpem-2022-0047","url":null,"abstract":"Objectives: The aim of our study was to define the genotype-phenotype correlations of mutations in the PAH gene among the Turkey's Central Anatolian region.Methods: Demographic characteristics of 108 patients with hyperphenylalaninemia (HPA) and 94 patients whose diagnosis was confirmed by PAH gene analysis (Sanger DNA Sequence Analysis and Next-Generation Sequencing) were determined retrospectively. Blood phenylalanine levels were analyzed using the high-performance liquid chromatography method.Results: Mild HPA-not-requiring-treatment (NT) was found in 50.9% of the patients, and a classical phenylketonuria (PKU) phenotype was found in 25.9%. Forty-seven types of variants were identified. The predominant variants were p.Ala403Val (9.9%), p.Ala300Ser (9.4%), and c.1066-11G>A (splicing) (9.4%). Missense mutations accounted for 68% of mutations and attenuated the clinical impact; splice variations were found in 14.8% of cases with severe features. The p.Thr380Met allele was specific to the mild HPA-NT group. The c.1066-11G>A (splicing) allele was associated with classical PKU, whereas the p.Arg408Trp allele was linked to severe symptoms. Three variations of unknown clinical significance were discovered: c.706+4A>T (splicing), c.843-5T>C (splicing), and p.Thr323=. Of these variants, the patient who was homozygous for the c.843-5T>C (splicing) allele related to the classical PKU phenotype. 70% of the patients who underwent tetrahydrobiopterin (BH4) test were responsive. Phenotypes that responded to BH4 treatment were mostly mild phenotypes.Conclusions: The PAH genotype is the main factor that determines the phenotype of PKU. Establishing the relationship between the identified genetic mutations and phenotypic characteristics will provide very important data for each patient in terms of the specific management style.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"81553808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Increased anxiety symptoms in pediatric type 1 diabetes during the acute phase of COVID-19 lockdown COVID-19封锁急性期儿童1型糖尿病患者焦虑症状增加

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-03-28 DOI: 10.1515/jpem-2022-0002

Caroline Wade, E. Burton, Leah I. Akinseye, Grace Nelson, Jamila Smith-young, Ahlee Kim

{"title":"Increased anxiety symptoms in pediatric type 1 diabetes during the acute phase of COVID-19 lockdown","authors":"Caroline Wade, E. Burton, Leah I. Akinseye, Grace Nelson, Jamila Smith-young, Ahlee Kim","doi":"10.1515/jpem-2022-0002","DOIUrl":"https://doi.org/10.1515/jpem-2022-0002","url":null,"abstract":"Abstract Objectives The prevalence of mental health issues has increased at an alarming rate during the COVID-19 pandemic. Furthermore, an exacerbated psychosocial burden in populations with chronic disease is observed. This cross-sectional study evaluated the psychosocial factors of pediatric type 1 diabetes (T1D) during the COVID-19 pandemic. Methods During April 2020, 15 min phone interviews were performed for pediatric T1D group (n=100) and healthy comparison group (n=93) to assess psychosocial functioning during the acute lockdown phase of the pandemic. The patient health questionnaire-4 was utilized to assess anxiety and depressive symptoms. An additional questionnaire to assess specific concerns related to T1D and COVID-19 was administered to the T1D group to explore potential causes for increased psychosocial burden. Results T1D was associated with a five-times higher risk of anxiety symptoms. Increased anxiety symptoms in T1D group appear to be, at least in part, due to fear of higher risk of severe COVID-19 infection and uncertainty regarding access to diabetes supplies. Conclusions This study provides a snapshot of mental well-being in a diverse population of patients with T1D in the acute phase of a crisis and underscores the need for timely, accurate medical information and distribution of medical resources for pediatric T1D population.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87630446","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 5

Prevalence of nephropathy in Indian children and youth with type 1 diabetes mellitus 印度1型糖尿病儿童和青少年肾病患病率

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-03-21 DOI: 10.1515/jpem-2021-0644

M. Karguppikar, C. Oza, Nikhil Shah, V. Khadilkar, K. Gondhalekar, A. Khadilkar

{"title":"Prevalence of nephropathy in Indian children and youth with type 1 diabetes mellitus","authors":"M. Karguppikar, C. Oza, Nikhil Shah, V. Khadilkar, K. Gondhalekar, A. Khadilkar","doi":"10.1515/jpem-2021-0644","DOIUrl":"https://doi.org/10.1515/jpem-2021-0644","url":null,"abstract":"Abstract Objectives Children with type 1 diabetes (T1D) having diabetic nephropathy (DN) are at increased risk of developing end stage renal disease. The present study aimed to determine the prevalence of DN and its predictors in Indian children and youth with T1D. Methods This cross-sectional study included 319 children and youth (2.6–21 years) with T1D having disease duration of at least 2 years. Demographic data and laboratory findings were obtained using standard questionnaires and protocols. Diagnosis of diabetic nephropathy was based on albuminuria on two occasions within a period of 3 months. Results The prevalence of DN in our study subjects was 13.4%. 7.5% subjects were known cases of diabetic nephropathy on treatment with enalapril. Hypertension was found in 14.3% subjects with DN in contrast to 4.1% without DN (p<0.05). Duration of diabetes and estimated glucose disposal rate were the important predictors of DN. Interestingly, of the 43 children with DN, 11.3% (n=8) were under 10 years age. Conclusions We found a high prevalence of DN in children and youth with T1D including in children under the age of 10 years. Early screening and timely intervention are required to retard the disease progression and avoid end stage renal disease.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"73637631","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 5

Bilateral Wilms’ tumor in a child with Denys-Drash syndrome: novel frameshift variant disrupts the WT1 nuclear location signaling region Denys-Drash综合征患儿双侧Wilms肿瘤:新型移码变异破坏WT1核定位信号区

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-03-21 DOI: 10.1515/jpem-2021-0673

M. Guaragna, F. Ledesma, Victoria Zavanelli Manzano, A. Maciel-Guerra, G. Guerra‐Júnior, Marcelo Milone Silva, Pedro Luiz de Brito, M. Palandi de Mello

引用次数: 1

Initial neutrophil/lymphocyte and lymphocyte/monocyte ratios can predict future insulin need in newly diagnosed type 1 diabetes mellitus 初始中性粒细胞/淋巴细胞和淋巴细胞/单核细胞比值可以预测新诊断的1型糖尿病患者未来的胰岛素需求

Journal of Pediatric Endocrinology and Metabolism Pub Date : 2022-03-18 DOI: 10.1515/jpem-2021-0564

I. Erbas, Aygün Hajikhanova, Özge Besci, Kübra Yüksek Acinikli, K. Demir, E. Böber, A. Abacı

{"title":"Initial neutrophil/lymphocyte and lymphocyte/monocyte ratios can predict future insulin need in newly diagnosed type 1 diabetes mellitus","authors":"I. Erbas, Aygün Hajikhanova, Özge Besci, Kübra Yüksek Acinikli, K. Demir, E. Böber, A. Abacı","doi":"10.1515/jpem-2021-0564","DOIUrl":"https://doi.org/10.1515/jpem-2021-0564","url":null,"abstract":"Abstract Objectives The exact mechanism of partial clinical remission in type 1 diabetes mellitus (T1DM) has not been elucidated yet. The severity of the inflammation at the time of diagnosis may affect the occurrence or duration of this phase. We aimed to investigate the relationship between hematological inflammatory parameters at the time of diagnosis in T1DM and (i) daily insulin requirement during the follow-up and (ii) the presence of partial clinical remission period, which was determined according to insulin dose-adjusted HbA1c levels. Methods A single-center retrospective study was conducted, including children who were diagnosed with T1DM, were positive for at least one autoantibody, and were followed up for one year in our clinic between 2010 and 2020. Results Sixty-eight patients (55.9% female, 64.7% prepubertal) were included in the study, whose mean age was 8.4 ± 4.2 years. A total of 38 patients (55.9%) had partial clinical remission. None of the initial hematological indices were associated with the occurrence of partial remission. Initial neutrophil/lymphocyte ratio (NLR) and derived-NLR (d-NLR) levels were significantly lower (p=0.011 and 0.033, respectively) and lymphocyte/monocyte ratio (LMR) levels were significantly higher (p=0.005) in patients who showed an insulin requirement of <0.5 IU/kg/day at the 3rd month after diagnosis. Conclusions Initial hematological parameters were not found as a predictor of partial clinical remission period in T1DM in children. However, a lower NLR and d-NLR, or a higher LMR at the time of diagnosis can be used as an indicator of a low daily insulin need at the 3rd month of T1DM.","PeriodicalId":16746,"journal":{"name":"Journal of Pediatric Endocrinology and Metabolism","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-03-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"80476159","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 2