Annals of Pediatric Endocrinology & Metabolism最新文献

{"title":"Case report of familial hypobetalipoproteinemia: a novel APOB mutation and literature review.","authors":"So Yun Park, Heung Sik Kim, Mi Ae Chu, Hyo-Jeong Jang, Seokjin Kang","doi":"10.6065/apem.2244180.090","DOIUrl":"10.6065/apem.2244180.090","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10783931/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9238296","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neurocognitive and psychosocial profiles of children with Turner syndrome.","authors":"So Yeong Park, Su Jin Kim, Myeongseob Lee, Hae In Lee, Ahreum Kwon, Junghwan Suh, Kyungchul Song, Hyun Wook Chae, Bonglim Joo, Ho-Seong Kim","doi":"10.6065/apem.2244222.111","DOIUrl":"10.6065/apem.2244222.111","url":null,"abstract":"<p><strong>Purpose: </strong>Patients with Turner syndrome (TS) have distinct neurocognitive and psychosocial characteristics. However, few clinical studies have reported neuropsychological findings in Korean patients. This study investigated the neurocognitive and psychosocial profiles of Korean children with TS.</p><p><strong>Methods: </strong>This retrospective cross-sectional study analyzed 20 pediatric patients (<18 years) with TS at the Department of Pediatric Endocrinology at Yonsei University Severance Children's Hospital in South Korea from January 2016 to March 2019. We selected 20 age- and sex-matched controls from among those who visited the endocrinology clinic and were confirmed to have no clinical abnormalities. All participants underwent several neuropsychological tests.</p><p><strong>Results: </strong>In the Korean Wechsler Intelligence Scale for Children-IV test, the Full-Scale Intelligence Quotient of the TS group was within the normal range. The Perceptual Reasoning Index, Working Memory Index, and Processing Speed Index scores were significantly lower in the TS group than in the control group. In contrast, the Verbal Comprehension Index did not differ significantly between the groups. The Comprehensive Attention Test results showed that the TS group displayed borderline visual selective attention. The social quotient score was significantly lower in the TS group than in the control group.</p><p><strong>Conclusion: </strong>Pediatric patients with TS in Korea displayed distinct neurocognitive and psychosocial characteristics. Patients in the TS group maintained their verbal function, but their attention, visuospatial function, and social competence were low. Our findings will contribute to the development of education programs for patients with TS to improve their neurocognitive and psychosocial functioning.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10765031/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9238292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Korean boy with a CHD8 mutation who presented with overgrowth, intellectual disability, and autism.","authors":"Chiwoo Kim, Eu-Seon Noh, Sung Yoon Cho","doi":"10.6065/apem.2244130.065","DOIUrl":"10.6065/apem.2244130.065","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10783926/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9195128","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Effects of once-weekly dulaglutide on juvenile type 2 diabetes mellitus and obesity in Korea: a pilot study.","authors":"Ji Young Seo, Cha Gon Lee, Hoonsung Choi, Hong Kyu Lee, So Young Lee, Hyo-Jeong Kim, Kyong Yeun Jung, Jin Taek Kim","doi":"10.6065/apem.2244196.098","DOIUrl":"10.6065/apem.2244196.098","url":null,"abstract":"<p><strong>Purpose: </strong>We sought to investigate the effects and side effects of once-weekly dulaglutide treatment for type 2 diabetes mellitus (T2DM) in patients <18 years of age in Korea.</p><p><strong>Methods: </strong>: From the Eulji University Hospital database, we identified all patients <18 years of age diagnosed with T2DM and treated with dulaglutide from January 1, 2017, to July 31, 2022.</p><p><strong>Results: </strong>We identified 5 patients <18 years of age treated with dulaglutide for T2DM management. Their mean (standard deviation [SD]) age was 16.6 (0.5) years. Four (80%) patients were female. The mean (SD) body mass index was 29.4 (5.1) kg/m2, and the mean (SD) age at diagnosis was 15.2 (1.6) years. Four patients had been treated previously with metformin alone or in combination with insulin. Four patients were treated with 1.5 mg of dulaglutide and one was treated with 0.75 mg of dulaglutide. The mean (SD) hemoglobin A1c concentrations at baseline, 3 months after treatment, and 1 year after treatment, respectively, were 10.0% (2.2%), 6.5% (1.5%), and 6.7% (1.4%), with significant differences. In addition, at baseline, 3 months after treatment, and 1 year after treatment, the mean (SD) body weight values were 79.7 (13.3) kg, 80.2 (14.0) kg, and 81.1 (15.3) kg, with no significant difference.</p><p><strong>Conclusion: </strong>Use of once-weekly dulaglutide for juvenile T2DM ensures very good glycemic control, with few side effects and good adherence, indicating its potential as a promising therapeutic agent in this age group. Nationwide studies are warranted to confirm our results.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10765027/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9238294","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Combination therapy of liothyronine and levothyroxine for hypothyroidism-induced dilated cardiomyopathy.","authors":"Youngha Choi,&nbsp;Se Yong Jung,&nbsp;Jung Min Park,&nbsp;Junghwan Suh,&nbsp;Eun Jung Shin,&nbsp;Hyun Wook Chae,&nbsp;Ho-Seong Kim,&nbsp;Ahreum Kwon","doi":"10.6065/apem.2023err.001","DOIUrl":"10.6065/apem.2023err.001","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e2/5c/apem-2023err-001.PMC10556447.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41139476","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Commentary on \"New-onset type 1 diabetes mellitus in the Paediatric Emergency Department: impact of the COVID-19 pandemic\".","authors":"Minsun Kim","doi":"10.6065/apem.2323044edi08","DOIUrl":"10.6065/apem.2323044edi08","url":null,"abstract":"©2023 Annals of Pediatric Endocrinology & Metabolism This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http:// creativecommons.org/licenses/by-nc/4.0) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. ISSN: 2287-1012(Print) ISSN: 2287-1292(Online) The coronavirus disease 2019 (COVID-19) pandemic has irrevocably changed the way the world functions. In particular, the pandemic resulted in unspeakable horrors in the healthcare field. The incidence and severity of many diseases varied as a result, and many researchers have attempted to identify what changes occurred in society, health, and people’s lives during this period. Research on adults and youth with type 1 diabetes mellitus (T1DM) has focused on its occurrence, causes, and clinical aspects. Until now, there has been controversy about whether the increased incidence of T1DM and/or the severity of clinical symptoms are directly related to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. However, these articles proved that during the COVID-19 pandemic, the incidence of newly diagnosed T1DM in children increased, and clinically more severe symptoms appeared. In addition, significant increases were observed in the global rates of diabetic ketoacidosis (DKA), severe DKA, high blood sugar, and glycosylated hemoglobin levels among children. A possible cause is the poor accessibility of hospitals, as care for non-COVID-19-related diseases was reduced to control COVID-19 infection in healthcare institutions. Furthermore, many avoided hospitals to minimize exposure to SARS-CoV-2. In addition, infection in children is potentially associated with pancreatic islet autoimmunity, promoting progression to apparent T1DM or precipitating stressors. Therefore, some researchers have proposed that timely access to healthcare, an increase in public and healthcare providers’ awareness of T1DM symptoms through public health education and screening campaigns, and proper diabetes management during pandemics or similar situations remain essential and key to avoiding similar increases in incidences of DKA or severe DKA in the future. Recently, García Romero et al. conducted a study on new-onset T1DM in the pediatric emergency department and assessed the impact of the COVID-19 pandemic. They determined the incidence and severity of newly diagnosed T1DM pediatric cases before and during the COVID-19 pandemic in Spain. They found that fewer new-onset T1DM patients presented with simple hyperglycemia, and the number of T1DM patients increased following the onset of the COVID-19 pandemic. Once the patients were stabilized and treatment established, the disease course was similar in the two periods. This cohort was characterized by increased consultations of the patients’/parents’ volition rather than referrals from pediatricians. Although this arti","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/4f/3a/apem-2323044edi08.PMC10556440.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41153478","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Carbohydrate counting implementation on pediatric type 1 diabetes mellitus: systematic review and meta-analysis.","authors":"Lowilius Wiyono,&nbsp;Nida Ghitha,&nbsp;Dina Clarisa,&nbsp;Anjani Larasati","doi":"10.6065/apem.2244242.121","DOIUrl":"10.6065/apem.2244242.121","url":null,"abstract":"<p><strong>Purpose: </strong>Type 1 diabetes mellitus, which is the most common type of diabetes among children, is not curable but can be managed well without a negative effect on quality of life. One of the treatments of type 1 diabetes mellitus is carbohydrate counting. This systematic review and meta-analysis sought to evaluate the efficacy of carbohydrate counting with regard to hemoglobin A1c (HbA1c) reduction in children with type 1 diabetes mellitus.</p><p><strong>Methods: </strong>Nine studies were assessed, with the primary outcome being glycemic control (HbA1c changes). We searched the following electronic databases: ProQuest, PubMed, Scopus, and ScienceDirect. The quality of studies included was assessed using the risk of bias for randomized control trials and the JBI Critical Appraisal Checklist for observational and cross-sectional studies. Quantitative analyses were made and extrapolated into a forest plot.</p><p><strong>Results: </strong>A total of 1,693 articles were identified. Four reviewers independently screened titles and abstracts. Of the 36 articles screened, 34 articles were found to be eligible. Of these, 25 studies were excluded because of unsuitable outcomes and study designs. Nine articles were included in the final analysis. Meta-analysis showed that there was a reduction in HbA1c in the carbohydrate counting group as compared to the control group. The cumulative effect of carbohydrate counting on HbA1c was a mean difference of -0.55 (95% confidence interval, -0.81 to -0.28, P<0.001). All of the studies exhibited similar results with the mean difference reduction favoring the interventional group. However, the heterogeneity analysis revealed an I2 value of 88%, implying high heterogeneity in the meta-analysis.</p><p><strong>Conclusion: </strong>The meta-analysis showed evidence favoring the use of carbohydrate counting in the management of type 1 diabetes mellitus.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/bd/a3/apem-2244242-121.PMC10556441.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41160282","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Central precocious puberty with hypothalamic hamartoma: the first case reports of 2 siblings with different phenotypes of Seckel syndrome 5.","authors":"Jisun Park,&nbsp;Min Jun Jeon,&nbsp;Seri Maeng,&nbsp;Dae Gyu Kwon,&nbsp;Sujin Kim,&nbsp;Jieun Lee","doi":"10.6065/apem.2244066.033","DOIUrl":"10.6065/apem.2244066.033","url":null,"abstract":"<p><p>Hypothalamic hamartomas (HHs) are nonneoplastic mass lesions located in the hypothalamus that can cause central precocious puberty (CPP) and/or gelastic seizures. Seckel syndrome 5 (OMIM210600, SCKL5) is a rare autosomal recessive genetic spectrum disorder characterized by intrauterine growth retardation, proportionate osteodysplastic primordial dwarfism, a wide range of intellectual disability, \"bird-headed\" facial features, and microcephaly with various structural brain abnormalities. Two siblings presented with short stature and small head circumference and were diagnosed with SCKL 5. The younger sister had HH with CPP and experienced a slipped capital femoral epiphysis during treatment. The 2 siblings had the same genetic variant but showed different phenotypes, which has not been reported previously; this study also as presents the first cases of SCKL5 diagnosed by genetic confirmation in Korea.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/21/c1/apem-2244066-033.PMC10556446.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40490285","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Slower progression of central puberty in overweight girls presenting with precocious breast development.","authors":"Eun-Gyong Yoo,&nbsp;Mi Ra Kim,&nbsp;Mo Kyung Jung","doi":"10.6065/apem.2244062.031","DOIUrl":"10.6065/apem.2244062.031","url":null,"abstract":"<p><strong>Purpose: </strong>Overweight (OW)/obese girls tend to have an earlier pubertal onset than girls with normal weight. However, only a few studies have reported the progression of puberty in these girls. This study aimed to identify risk factors for rapid pubertal progression in OW/obese girls presenting with precocious breast development.</p><p><strong>Methods: </strong>This retrospective cohort study reviewed the medical records of 110 OW (body mass index [BMI] ≥85th percentile for age and sex) and 213 nonoverweight (NW, BMI <85th percentile for age and sex) girls who presented with breast budding before 8 years of age. OW girls were divided into 2 subgroups: girls with central puberty progression before 9 years of age (OW-RP) and those without (OW-SP).</p><p><strong>Results: </strong>Progression to central puberty before the age of 9 was more common in NW girls than in OW girls (83.8 % vs. 65.2 % in NW vs. OW group, p<0.001), and progression-free survival for 1, 2, and 3 years was higher in the OW group (p<0.001). In a subgroup analysis of OW girls, the OW-RP subgroup had more advanced bone age (BA) at the first visit (p=0.047) and higher initial luteinizing hormone (LH, p=0.010) levels than the OW-SP subgroup. Being NW (p=0.001) and having more advanced BA (p=0.023) at the initial workup were the risk factors for pubertal progression before age 9.</p><p><strong>Conclusion: </strong>Pubertal progression seems to be slower in OW girls than in NW girls presenting with precocious breast development. However, it can progress rapidly in OW girls with particularly pronounced BA advancement and high LH levels at the initial workup.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/e0/bd/apem-2244062-031.PMC10556445.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40578823","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Brain magnetic resonance imaging (MRI) findings in central precocious puberty patients: is routine MRI necessary for newly diagnosed patients?","authors":"Ye Rim Oh,&nbsp;Yu Jin Kim,&nbsp;Kyeong Eun Oh,&nbsp;Gyu Hyun Park,&nbsp;Eungu Kang,&nbsp;Hyo-Kyoung Nam,&nbsp;Young-Jun Rhie,&nbsp;Saelin Oh,&nbsp;Kee-Hyoung Lee","doi":"10.6065/apem.2244192.096","DOIUrl":"10.6065/apem.2244192.096","url":null,"abstract":"<p><strong>Purpose: </strong>The overall incidence of central precocious puberty (CPP) has increased in recent decades, and brain magnetic resonance imaging (MRI) evaluations are recommended in cases of suspected brain lesions. This study aimed to investigate the prevalence of MRI abnormalities and to evaluate the need for routine brain MRI in patients with newly diagnosed CPP.</p><p><strong>Methods: </strong>This retrospective study reviewed the data of patients newly diagnosed with CPP who underwent routine pituitary MRI at Korea University Anam Hospital from March 2020 to September 2021. A total of 199 girls and 24 boys was enrolled in this study. Positive MRI findings were categorized as abnormal pituitary, nonpituitary incidental, and pathological. In addition, we investigated the incidence of MRI abnormalities and evaluated their associations with clinical and biochemical factors.</p><p><strong>Results: </strong>Positive brain MRI findings were observed in 84 patients (37.7%). Pituitary abnormalities were found in 54 patients (24.2%), with Rathke cleft cysts being the most common (16.1%). Incidental nonpituitary findings were observed in 29 patients (13.0%), while a pathological brain lesion (diagnosed as hypothalamic hamartoma) was observed in only 1 female patient (0.4%). No significant differences in sex or age were found in incidence of pituitary abnormalities or nonpituitary incidental findings. Compared with headache controls, significant associations were observed between abnormal pituitary findings on MRI and CPP (unadjusted odds ratio, 3.979; 95% confidence interval, 1.726-9.173).</p><p><strong>Conclusion: </strong>True pathological findings were rare, even though the prevalence of abnormalities on pituitary MRI in patients with CPP was relatively high. Considering its cost-effectiveness, MRI screenings should be carefully considered in patients with CPP.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/21/a4/apem-2244192-096.PMC10556448.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"41178758","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}