Journal of Clinical Research in Pediatric Endocrinology最新文献

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Iodinated Contrast Induced Hypothyroidism in the Infant After Enteral Contrast Enema: A Case Report and Systematic Review. 婴儿经肠内对比剂灌肠后碘化对比剂诱发的甲状腺功能减退症:病例报告与系统回顾
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-08-28 DOI: 10.4274/jcrpe.galenos.2024.2023-12-2
Adinda G H Pijpers, Sandra E Zoetelief, Laurens D Eeftinck Schattenkerk, Ralph de Vries, Wes Onland, Joost van Schuppen, A S Paul van Trotsenburg, L W Ernest van Heurn, Joep P M Derikx, Nitash Zwaveling-Soonawala, Christiaan F Mooij
{"title":"Iodinated Contrast Induced Hypothyroidism in the Infant After Enteral Contrast Enema: A Case Report and Systematic Review.","authors":"Adinda G H Pijpers, Sandra E Zoetelief, Laurens D Eeftinck Schattenkerk, Ralph de Vries, Wes Onland, Joost van Schuppen, A S Paul van Trotsenburg, L W Ernest van Heurn, Joep P M Derikx, Nitash Zwaveling-Soonawala, Christiaan F Mooij","doi":"10.4274/jcrpe.galenos.2024.2023-12-2","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2023-12-2","url":null,"abstract":"<p><strong>Background: </strong>Excessive iodine intake triggers the Wolff-Chaikoff effect resulting in downregulation of thyroid hormone synthesis to prevent hyperthyroidism. Failure to escape the Wolff-Chaikoff effect can be seen especially in (premature born) infants and may result in prolonged iodine induced hypothyroidism. We describe a rare case of a preterm infant who developed severe iodinated contrast induced hypothyroidism after the use and prolonged stasis of enteral iodinated contrast media (ICM). In addition a systematic literature search was performed to evaluate all available data on this complication.</p><p><strong>Methods: </strong>A systematic literature search was performed in PubMed and Embase. Studies describing the effect of enteral ICM on thyroid function were considered eligible. The primary outcome was to determine the frequency of contrast induced hypothyroidism in infants after administration of enteral ICM.</p><p><strong>Results: </strong>The premature infant in our center developed severe iodinated contrast induced hypothyroidism after enteral ICM. In total, only two studies met our eligibility data, reporting eight patients. Out of these eight patients, four premature infants developed a contrast induced hypothyroidism after enteral administration of ICM.</p><p><strong>Conclusion: </strong>Data on severity, length and frequency of contrast induced hypothyroidism after exposure to enteral ICM is very scarce. The herein reported case and literature search illustrate the potential severity of the complication and underline the necessity of future studies on this topic. We recommend standardized monitoring of thyroid function after exposure to enteral ICM in newborns to prevent delayed diagnosis of severe contrast induced hypothyroidism until evidence based recommendations can be made.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142082396","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 Clinical Features of Schimke Immuno-Osseous Dysplasia: A New Patient with a Novel Variant and Novel Clinical Findings. 扩展希姆克免疫骨发育不良症的临床特征:一名新变异患者和新临床发现。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-08-08 DOI: 10.4274/jcrpe.galenos.2024.2024-1-17
Ceren Alavanda, Şenol Demir, Serçin Güven, Mehmet Eltan, Sevgi Bilgiç Eltan, Asena Pınar Sefer, Serim Pul, Tülay Güran, Harika Alpay, Ahmet Arman, Pınar Ata, Serap Turan
{"title":"Expanding the Clinical Features of Schimke Immuno-Osseous Dysplasia: A New Patient with a Novel Variant and Novel Clinical Findings.","authors":"Ceren Alavanda, Şenol Demir, Serçin Güven, Mehmet Eltan, Sevgi Bilgiç Eltan, Asena Pınar Sefer, Serim Pul, Tülay Güran, Harika Alpay, Ahmet Arman, Pınar Ata, Serap Turan","doi":"10.4274/jcrpe.galenos.2024.2024-1-17","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-1-17","url":null,"abstract":"<p><p>Schimke Immuno-Osseous Dysplasia (SIOD) (MIM:242900) is an ultra-rare autosomal recessive pan-ethnic pleiotropic disease. Typical findings of this syndrome are steroid-resistant nephrotic syndrome, cellular immunodeficiency and spondyloepiphyseal dysplasia and facial dysmorphism. Biallelic variants in the <i>SMARCAL1</i> gene cause SIOD. The five-and-half-year-old female patient was evaluated because of short stature, dysmorphism, hypercalcemia, hypophosphatemia and elevated FSH levels. Karyotype analysis and array-CGH testing were normal. Clinical Exome Sequencing was performed via next-generation sequencing to analyze genes associated with hypophosphatemia. No pathogenic variant was detected. The subsequent detection of proteinuria during her follow-up for cross-fused ectopic left kidney ultimately facilitated the diagnosis of SIOD, although no obvious spondyloepiphyseal dysplasia was detected. Re-analysis of CES revealed a novel homozygous c.2422_2427+9delinsA pathogenic variant in the <i>SMARCAL1</i>. One hundred twenty-five SIOD cases from 38 literature reporting <i>SMARCAL1</i> gene pathogenic variants were reviewed to investigate whether hypercalcemia, hypophosphatemia and elevated FSH levels had been previously reported in SIOD patients. This review revealed that this was the first time these findings had been reported in a SIOD patient. This report expands not only the phenotypic but also genotypic spectrum of SIOD.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141903288","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
Hospital Admission for Diabetic Ketoacidosis in Thai Children and Adolescents with Type 1 Diabetes: A National Study during 2015-2019. 泰国儿童和青少年 1 型糖尿病患者因糖尿病酮症酸中毒入院情况:2015-2019 年期间的一项全国性研究。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-08-08 DOI: 10.4274/jcrpe.galenos.2024.2024-6-4
Somboon Wankanit, Kaewjai Thepsuthammarat, Preamrudee Poomthavorn, Taninee Sahakitrungruang, Pat Mahachoklertwattana
{"title":"Hospital Admission for Diabetic Ketoacidosis in Thai Children and Adolescents with Type 1 Diabetes: A National Study during 2015-2019.","authors":"Somboon Wankanit, Kaewjai Thepsuthammarat, Preamrudee Poomthavorn, Taninee Sahakitrungruang, Pat Mahachoklertwattana","doi":"10.4274/jcrpe.galenos.2024.2024-6-4","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-6-4","url":null,"abstract":"<p><strong>Objective: </strong>To study the national incidence of admission for diabetic ketoacidosis (DKA) in Thai children and adolescents with type 1 diabetes (T1D) and characterize risk factors for DKA admission.</p><p><strong>Methods: </strong>Admission records of children and adolescents with T1D during the years 2015-2019 were retrieved from the Thai health coverage system of all schemes. Hospitalization was categorized according to patients' age groups (<1, 1-5, 6-12 and 13-17 years), sex and geographical regions (Bangkok, Central, Northeast, North and South). DKA admission incidence and rate were calculated and compared among subgroups.</p><p><strong>Results: </strong>The annual incidences of T1D and DKA admissions progressively increased over the study period (T1D: 12.0 to 15.0, p<0.001 and DKA: 4.8 to 7.3 per 100,000 child-years, p<0.001). About half of DKA admissions (52%) were recurrent episodes. DKA admission rate was 1.49 admissions/patient. The incidence of DKA admission was greatest in individuals aged 13-17 years (13-17 years: 10.3; 6-12 years: 6.3; 1-5 years: 1.7; and <1 year: 0.6 per 100,000 child-years, p<0.001). DKA admission incidence was greater in females than males (7.6 vs. 4.3 per 100,000 child-years, p<0.001). Among 5 geographical regions, greatest percentage of recurrent DKA (57%), rate of increased annual incidence of DKA admission (3.8 to 7.8 per 100,000 child-years), and DKA admission rate (1.64 admissions/patient) were found in the Northeast region.</p><p><strong>Conclusions: </strong>During the years 2015-2019, rising annual incidences of T1D and DKA admissions among Thai youth were observed. Individuals older than 6 years, being females, and resided in the Northeast region had higher risk for DKA hospitalization.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141903290","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
Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single-Center Experience. 原发性线粒体疾病儿童的内分泌失调:单中心经验。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-08-08 DOI: 10.4274/jcrpe.galenos.2024.2024-1-11
Esra Deniz Papatya Çakır, Melike Ersıoy, Nihan Çakır Biçer, Asuman Gedikbaşı
{"title":"Endocrine Disorders in Children with Primary Mitochondrial Diseases: Single-Center Experience.","authors":"Esra Deniz Papatya Çakır, Melike Ersıoy, Nihan Çakır Biçer, Asuman Gedikbaşı","doi":"10.4274/jcrpe.galenos.2024.2024-1-11","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-1-11","url":null,"abstract":"<p><strong>Objective: </strong>Endocrine abnormalities may represent the only clinical manifestation of primary mitochondrial disorders. This study aimed to evaluate the endocrinological characteristics of mitochondrial disease in our cohort.</p><p><strong>Methods: </strong>A total of twenty-six pediatric patients diagnosed with mitochondrial disease were categorized on the basis of their specific genetic abnormalities. The auxologic data, pubertal development, and, based on their clinical symptoms, hormonal profiles were obtained.</p><p><strong>Results: </strong>Twelve of the cohort of 26 patients (46%) were female. In 15 of the patients (57.6%), their mitochondrial disease (MD) was caused by nuclear DNA mutations (nDNA group). Four patients had Leigh syndrome, 2 patients had LHON syndrome, 2 patients had MELAS, and 1 patient had KSS clinical phenotype. The median age at diagnosis was 2.91 (0.59-16.8) years, and the median age at first endocrinologic evaluation was 4.62 (1.26-18) years. The mean height SDS was -1.34 ± 2.12, and the mean BMI SDS was -0.82 ± 1.96 for all patients. Of the 26 patients, 6 (23%) had a range of hormonal deficits. Ovarian insufficiency, central adrenal insufficiency, central hypothyroidism, diabetes mellitus, and critical illness-related adrenal insufficiency were all observed. Three of the patients were initially monitored in the endocrine clinic for hormone deficiencies but it was later determined that the hormonal abnormalities were caused by underlying mitochondrial disease.</p><p><strong>Conclusion: </strong>Individuals diagnosed with mitochondrial disease, particularly those with specific genetic abnormalities, are considered a high-risk group for developing hormonal deficits. Endocrine diseases could be one of the primary mitochondrial disorders' early warning symptoms.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141903287","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
Making Teachers and School Health Nurses Part of Pediatric Diabetes Teams. 让教师和学校保健护士成为儿科糖尿病小组的一员。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-08-08 DOI: 10.4274/jcrpe.galenos.2024.2024-5-12
Şükrü Hatun, Gül Yeşiltepe Mutlu, Gülcan Kılınç, Zehra Aycan
{"title":"Making Teachers and School Health Nurses Part of Pediatric Diabetes Teams.","authors":"Şükrü Hatun, Gül Yeşiltepe Mutlu, Gülcan Kılınç, Zehra Aycan","doi":"10.4274/jcrpe.galenos.2024.2024-5-12","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-5-12","url":null,"abstract":"<p><p>Children with diabetes need consistent care across all environments, including school, where they spend significant time.Turkey's Diabetes at School Program, initiated in 2010, has made substantial progress in integrating diabetes care into the school system. The program's achievements include government support, annual awareness activities, communication between diabetes teams and schools, policy implementation, and training for school staff. A recent meeting of Provincial Health Service Officers highlighted ongoing efforts and future directions for the program, emphasizing the importance of continuous support for children with diabetes in educational settings. Key outcomes of this meeting include designated caregivers for children with diabetes at school, optional administration of insulin by trained staff, mandatory diabetes education for teachers, and health-conscious policies for school activities. The program's success is attributed to the collaborative efforts of teachers, healthcare professionals, and government officials. Ensuring robust support for children with diabetes in schools is vital for their well-being and academic success.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141903291","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
Experience in a PHTS Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome. PHTS专家中心的经验:PTEN Hamartoma肿瘤综合征患儿甲状腺超声监测的收益。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-08-08 DOI: 10.4274/jcrpe.galenos.2024.2024-3-14
Esther M G Bormans, Janneke H M Schuurs-Hoeijmakers, Petra van Setten, Linda A J Hendricks, Meggie M C M Drissen, Martin Gotthardt, Hedi L Claahsen-van der Grinten, Nicoline Hoogerbrugge, Jolanda H Schieving
{"title":"Experience in a PHTS Expertise Centre: Yield of Thyroid Ultrasound Surveillance in Children with PTEN Hamartoma Tumor Syndrome.","authors":"Esther M G Bormans, Janneke H M Schuurs-Hoeijmakers, Petra van Setten, Linda A J Hendricks, Meggie M C M Drissen, Martin Gotthardt, Hedi L Claahsen-van der Grinten, Nicoline Hoogerbrugge, Jolanda H Schieving","doi":"10.4274/jcrpe.galenos.2024.2024-3-14","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-3-14","url":null,"abstract":"<p><strong>Objective: </strong>Children with PTEN hamartoma tumor syndrome (PHTS) are at increased risk for developing thyroid abnormalities, including differentiated thyroid carcinoma (DTC). The Dutch PHTS guideline recommends ultrasound surveillance starting from age 18. Since the literature describes PHTS patients who developed DTC before age 18, the Dutch PHTS expertise centre has initiated annual ultrasound surveillance starting from age 12. The purpose of this study was to identify the yield of thyroid ultrasound surveillance in children.</p><p><strong>Methods: </strong>A retrospective single centre cohort study was conducted. Pediatric PHTS patients who received thyroid ultrasound surveillance before age 18 between 2016-2023 were included. Patients' medical records have been reviewed. Primary outcomes included prevalence and time to develop thyroid nodules ≥10mm, nodular growth, goiter, thyroiditis and DTC. Descriptive statistics and Kaplan-Meier analyses were performed.</p><p><strong>Results: </strong>Forty-three patients were included. Two patients (5%) were diagnosed with DTC at ages 12 and 17. Both DTCs were identified as minimally invasive follicular carcinoma at stages pT3NxMx and pT1NxMx respectively. A total of 84% were diagnosed with thyroid abnormalities at a median age of 12 years (range 9-18). Most common findings were benign, including nodular disease (74%), goiter (30%) and autoimmune thyroiditis (12%). Nodular growth was observed in 14 patients (33%) resulting in (hemi)thyroidectomy in 7 patients (16%).</p><p><strong>Conclusion: </strong>Thyroid ultrasound surveillance resulted in the detection of DTC in 2/43 PHTS patients before age 18. These findings support the recommendation to initiate thyroid ultrasound surveillance in children at least from age 12, preferably within an expertise centre.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141903289","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
Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel ENPP1 Variant in a Taiwanese Girl. 一名台湾女孩的常染色体隐性低磷血症 2 型佝偻病与新型 ENPP1 变异有关
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-07-16 DOI: 10.4274/jcrpe.galenos.2024.2024-3-8
Han-Yi Lin, Ni-Chung Lee, Meng-Ju Melody Tsai, Ting-Ming Wang, Yi-Ching Tung
{"title":"Autosomal Recessive Hypophosphatemic Rickets Type 2 Associated with a Novel <i>ENPP1</i> Variant in a Taiwanese Girl.","authors":"Han-Yi Lin, Ni-Chung Lee, Meng-Ju Melody Tsai, Ting-Ming Wang, Yi-Ching Tung","doi":"10.4274/jcrpe.galenos.2024.2024-3-8","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-3-8","url":null,"abstract":"<p><p>Autosomal recessive hypophosphatemic rickets (HR) type 2 (ARHR2) is a rare form of HR caused by variant of the gene encoding ectonucleotide pyrophosphatase/phosphodiesterase 1 (<i>ENPP1</i>). Our patient presented with a history of unsteady gait and progressively bowing legs that had commenced at the age of 1 year. Laboratory tests revealed an elevated level of fibroblast growth factor 23 (FGF23), hypophosphatemia, and a high urine phosphate level. Radiography revealed the typical features of rickets. Next-generation sequencing identified a previously reported c.783C>G (p.Tyr261Ter) and a novel c.1092-42A>G variant in the <i>ENPP1</i> gene. The patient was prescribed oral phosphates and active vitamin D and underwent guided growth of both distal femora and proximal tibiae commencing at the age of 3 years. No evidence of generalized arterial calcification was apparent during follow-up, and growth rate was satisfactory.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-07-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141621250","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
Hereditary Severe Insulin-resistance Syndrome and Acanthosis Nigricans Caused by Novel Mutations in the INSR Gene. 由 INSR 基因新型突变引起的遗传性严重胰岛素抵抗综合征和黑棘皮病
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-07-02 DOI: 10.4274/jcrpe.galenos.2024.2024-2-14
Chen Chongyang, Zhao Yangting, Li Kai, Lv Xiaoyu, Wang Yawen, Zhen Donghu, Fu Songbo, Ma Lihua, Zhou Liyuan, Liu Jingfang
{"title":"Hereditary Severe Insulin-resistance Syndrome and Acanthosis Nigricans Caused by Novel Mutations in the <i>INSR</i> Gene.","authors":"Chen Chongyang, Zhao Yangting, Li Kai, Lv Xiaoyu, Wang Yawen, Zhen Donghu, Fu Songbo, Ma Lihua, Zhou Liyuan, Liu Jingfang","doi":"10.4274/jcrpe.galenos.2024.2024-2-14","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-2-14","url":null,"abstract":"<p><p>Most cases associated with Hereditary Severe Insulin Resistance Syndrome (H-SIRS) are linked to mutations in the insulin receptor (<i>INSR</i>) gene. Patients with H-SIRS typically manifest symptoms of hyperinsulinemia, insulin resistance, and diabetes mellitus. Other symptoms include impaired glucose regulation, hyperandrogenism, and the presence of acanthosis nigricans (AN). In this report, we present two cases of H-SIRS in female children exhibiting various symptoms, such as hyperinsulinemia, fasting hypoglycemia, postprandial hyperglycemia, overweight, fatty liver, hyperandrogenism, and varying degrees of AN. One patient also presented with mental retardation. Gene sequencing identified specific mutations in the <i>INSR</i> gene for both patients: c.2663A > G (p.Tyr888Cys) and c.38_61del (p.Pro13_Ala20del). These mutations have the potential to disrupt the interaction between <i>INSR</i> and insulin, leading to abnormal insulin signaling, insulin resistance, and various clinical manifestations.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141477766","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
Inequalities in Access to Diabetes Technologies in Children with Type 1 Diabetes: A Multicenter, Cross-sectional Study from Türkiye. 1 型糖尿病儿童在获得糖尿病技术方面的不平等:土耳其多中心横断面研究。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-07-02 DOI: 10.4274/jcrpe.galenos.2024.2024-4-6
Kagan Ege Karakus, Sibel Sakarya, Ruken Yıldırım, Şervan Özalkak, Mehmet N Özbek, Nurdan Yıldırım, Gülcan Delibağ, Beray S Eklioğlu, Belma Haliloğlu, Murat Aydın, Heves Kırmızıbekmez, Tuğba Gökçe, Ecem Can, Elif Eviz, Gül Yeşiltepe-Mutlu, Şükrü Hatun
{"title":"Inequalities in Access to Diabetes Technologies in Children with Type 1 Diabetes: A Multicenter, Cross-sectional Study from Türkiye.","authors":"Kagan Ege Karakus, Sibel Sakarya, Ruken Yıldırım, Şervan Özalkak, Mehmet N Özbek, Nurdan Yıldırım, Gülcan Delibağ, Beray S Eklioğlu, Belma Haliloğlu, Murat Aydın, Heves Kırmızıbekmez, Tuğba Gökçe, Ecem Can, Elif Eviz, Gül Yeşiltepe-Mutlu, Şükrü Hatun","doi":"10.4274/jcrpe.galenos.2024.2024-4-6","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-4-6","url":null,"abstract":"<p><strong>Objective: </strong>To determine inequalities in access to diabetes technologies and the effect of socioeconomic factors on families with children with type 1 diabetes.</p><p><strong>Methods: </strong>In this multicenter cross-sectional study, parents of children with type 1 diabetes completed a questionnaire about household sociodemographic characteristics, latest HbA1c values, continuous glucose monitoring (CGM) and insulin pump use of children, the education and working status of parents. These characteristics were compared between technology use (only-CGM, only-pump, CGM+pump, no technology use).</p><p><strong>Results: </strong>Among 882 families, only-CGM users, only-pump users, and CGM+pump users compared with no technology users, adjusting for age, sex, region, education levels, number of working parents, and household income. Children living in the least developed region had lower odds of having only-CGM (OR=0.20, 95%CI 0.12-0.34) and having CGM+pump (OR=0.07, 95%CI 0.03-0.22) compared with those living in the most developed region. Children with parents who had not finished high school had lower odds of having only-CGM (Mothers: OR=0.36, 95%CI 0.19-0.66; fathers: OR=0.32, 95%CI 0.18-0.60) or both CGM+pump (OR=0.27, 95%CI 0.11-0.64; fathers: OR=0.34, 95%CI 0.15-0.79) rather than no-technology compared to children whose parents has a university degree. Every $840 increase in the household income increased the odds by 5% for having only-CGM (OR=1.05, 95%CI 1.02-1.09) and CGM+pump (OR=1.05, 95%CI 1.01-1.08).</p><p><strong>Conclusion: </strong>Socioeconomic factors such as education, regions, and income were associated with inequality in access to technologies. The inequalities are more prominent in access to CGM while CGM had a bigger contribution to glycemic control.</p>","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141493996","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
Assessment of the Admission and Follow-up Characteristics of Children Diagnosed with Secondary Osteoporosis. 评估被诊断为继发性骨质疏松症的儿童的入院和随访特征。
IF 1.5 4区 医学
Journal of Clinical Research in Pediatric Endocrinology Pub Date : 2024-07-02 DOI: 10.4274/jcrpe.galenos.2024.2024-4-4
Emine Kübra Şen, Merih Berberoğlu, Gizem Şenyazar, Sirmen Kızılcan Çetin, Ayşegül Ceran, Seda Erişen Karaca, Elif Özsu, Zehra Aycan, Zeynep Şıklar
{"title":"Assessment of the Admission and Follow-up Characteristics of Children Diagnosed with Secondary Osteoporosis.","authors":"Emine Kübra Şen, Merih Berberoğlu, Gizem Şenyazar, Sirmen Kızılcan Çetin, Ayşegül Ceran, Seda Erişen Karaca, Elif Özsu, Zehra Aycan, Zeynep Şıklar","doi":"10.4274/jcrpe.galenos.2024.2024-4-4","DOIUrl":"https://doi.org/10.4274/jcrpe.galenos.2024.2024-4-4","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Objective: &lt;/strong&gt;Secondary osteoporosis is a condition when the underlying disease or its treatment causes the bone mass to decrease and the bone structure to deteriorate, increasing the risk of fracture. The importance of diagnosis and treatment during childhood and adolescence is due to its long-term negative effects. In this study, our objectives were to determine the diagnostic findings, treatment efficacy, and follow-up characteristics of childhood with secondary osteoporosis.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;61 patients diagnosed with secondary osteoporosis between January 2000 and January 2021 were included in the study. The research is a cross-sectional and descriptive study. Study participants had to be under 18 years of age when the primary underlying disease was diagnosed and received treatment for secondary osteoporosis. Patient data were collected from patient files. Patient data were obtained from patient files in hospitals and were interpreted through the IBM SPSS Statistics for Windows version 20.0 (IBM Corp, Armonk, NY, USA).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;61 patients (28 women/33 men) were evaluated. The most common underlying primary diseases in patients with secondary osteoporosis were inflammatory diseases (57.7%), neuromuscular diseases (26.2%), immunodeficiency (13.1%), acute lymphoblastic leukemia (8.2%), metabolic diseases (8.2%), and solid organ transplantation. (8.2%), bone marrow transplantation (6.6%) and epilepsy (6.6%). The average chronological age when secondary osteoporosis was diagnosed was 11.89±4.88 years. They were evaluated for osteoporosis 6.39±5.13 years after the onset of the underlying primary chronic diseases. 78.7% of the patients had one or more chronic drug use. Systemic steroid use was 59%, chemotherapeutics 23%, immunomodulatory drugs 19.7%, antiepileptic drugs 8.2%, inhaled steroids 4.9%, IVIG 1.6%, and antituberculosis drugs 1.6%. Additionally, 1.6% of the patients were using testosterone as replacement, 3.3% L-Thyroxine, 1.6% estrogen, and 1.6% growth hormone. Bone pain was detected in 49.2% of the patients. All patients had vertebral fractures before treatment. Bisphosphonate treatment was given to 45 patients with secondary osteoporosis. There was a statistically significant increase in mean bone mineral density (BMD) and bone mineral content values six months after treatment, (p&lt;0.001). There was a significant increase in BMD Z-score values for chronological and height age (p&lt;0.001). The patients' BMD values increased on average by 31.15% with treatment. Following bisphosphonate treatment, there was a significant reduction in both fracture number and bone pain in patients (p&lt;0.01). When patients who received and did not receive steroid treatment were compared, both groups received similar benefits from bisphosphonate treatment.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;Secondary osteoporosis is a condition that is influenced by many factors, such as the primary disease causing osteopor","PeriodicalId":48805,"journal":{"name":"Journal of Clinical Research in Pediatric Endocrinology","volume":" ","pages":""},"PeriodicalIF":1.5,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141493995","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
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