Donghyun Lee, So Yun Park, Heung Sik Kim, Seokjin Kang
{"title":"Short stature with low serum alkaline phosphatase activity: a case report of hypophosphatasia.","authors":"Donghyun Lee, So Yun Park, Heung Sik Kim, Seokjin Kang","doi":"10.6065/apem.2244294.147","DOIUrl":"10.6065/apem.2244294.147","url":null,"abstract":"<p><p>Hypophosphatasia (HPP) is a rare condition characterized by abnormal bone mineralization. The manifestations of HPP vary from no symptoms to intrauterine fetal death; short stature is another indication of HPP. A 3 ½-year-old boy presented with short stature, transient hypercalcemia, and mild gait disturbance without definite bony deformity. Laboratory examination revealed transient hypercalcemia, normal phosphorous and 25-hydroxy vitamin D levels, and mildly low alkaline phosphatase levels. A targeted next-generation sequencing panel associated with inborn errors of metabolism revealed a pathogenic heterozygous mutation in the ALPL gene, c.979T>C (p.Phe327Leu). When a child visits a hospital with short stature, decreased height velocity, and low alkaline phosphatase level, clinicians should consider the possibility of HPP even if definite skeletal dysplasia is not evident.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"28 4","pages":"312-317"},"PeriodicalIF":2.8,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10765032/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139088911","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}
Song Han Lee, Hyun Gyung Lee, Eun Mi Yang, Chan Jong Kim
{"title":"Comparison between transient and permanent congenital hypothyroidism on a thyroid function test after re-evaluation.","authors":"Song Han Lee, Hyun Gyung Lee, Eun Mi Yang, Chan Jong Kim","doi":"10.6065/apem.2244260.130","DOIUrl":"10.6065/apem.2244260.130","url":null,"abstract":"<p><strong>Purpose: </strong>Congenital hypothyroidism (CH) is diagnosed with neonatal screening and is treated early in the neonatal period. Among these patients, transient CH (TCH) is included and requires re-evaluation. The purpose of this study was to find the best way to discontinue levothyroxine and to find trends in thyroid function tests (TFTs) after re-evaluation.</p><p><strong>Methods: </strong>We retrospectively reviewed 388 patients diagnosed with CH. They were classified as permanent CH (PCH) and TCH. The total number of the PCH and TCH groups was 83 (51 boys and 32 girls). We compared clinical parameters to predict TCH and to identify the trends of TFT.</p><p><strong>Results: </strong>The first thyroid-stimulating hormone (TSH) value after discontinuation and the average TSH value for 1, 2, and 3 years were all significantly higher in the PCH group (P<0.01). The first fT4 value after discontinuation and the average fT4 value for 1, 2, and 3 years were all significantly higher in the TCH group (P<0.01). The optimal cutoff value on the receiver operating characteristic curve for PCH prediction with an average of 3 years of TSH was greater than 9.05 μIU/mL, which was predicted with a sensitivity of 100% and a specificity of 100%.</p><p><strong>Conclusion: </strong>When the TSH value ranges from 10 μIU/mL to 20 μIU/mL, clinicians can discontinue levothyroxine if the next result is around 10 μIU/mL or shows a decreasing trend.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"28 4","pages":"245-250"},"PeriodicalIF":2.8,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10765033/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139088910","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}
Minji Kim, Jun Lee, Sukdong Yoo, Ji Yeon Song, Eu Jeen Yang, Seong Heon Kim, Chong Kun Cheon, Ju Young Yoon
{"title":"A Korean child with DICER1 syndrome presenting with thyroid manifestations accompanied by other types of neoplasms: a case report and literature review.","authors":"Minji Kim, Jun Lee, Sukdong Yoo, Ji Yeon Song, Eu Jeen Yang, Seong Heon Kim, Chong Kun Cheon, Ju Young Yoon","doi":"10.6065/apem.2244206.103","DOIUrl":"10.6065/apem.2244206.103","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":" ","pages":"S6-S8"},"PeriodicalIF":2.8,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10783924/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9238293","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}
So Yun Park, Heung Sik Kim, Mi Ae Chu, Hyo-Jeong Jang, Seokjin Kang
{"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":" ","pages":"S9-S11"},"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}
Mi-Seon Lee, Rosie Lee, Sook-Hyun Park, Soon Hak Kwon, Jin-Young Park, Sang-Woo Lee, So-Mi Lee, Jung-Eun Moon
{"title":"Metanephrine negative pheochromocytoma: a rare case report of dopamine-secreting tumor in an adolescent neurofibromatosis type 1 patient.","authors":"Mi-Seon Lee, Rosie Lee, Sook-Hyun Park, Soon Hak Kwon, Jin-Young Park, Sang-Woo Lee, So-Mi Lee, Jung-Eun Moon","doi":"10.6065/apem.2244016.008","DOIUrl":"10.6065/apem.2244016.008","url":null,"abstract":"<p><p>Pheochromocytoma (PCC) occurs in 4% of pediatric neurofibromatosis type 1 (NF1) patients and is characterized by epinephrine and norepinephrine secretion. Herein, we report the first case of dopamine-secreting PCC in a 13-year-old patient with NF1. A left adrenal mass was incidentally found on abdominal computed tomography (CT ) during hypertension workup. Fractionated 24-hour urine metanephrine excretion was normal, but urine dopamine level was elevated. Focal 123I-metaiodobenzylguanidine uptake was observed on single-photon emission tomography/CT (SPECT/CT). Surgery was delayed due to small tumor size, vague symptoms, and increased dopamine level. After 6 months, focal significant uptake of the lesion on 6-[18F]fluoro-L-3,4-dihydroxyphenylalanine (18F-FDOPA) PET/CT increased and tumor size increased on abdominal CT. Laparoscopic resection was performed, and the mass was histologically confirmed as PCC. Currently, the vital signs of the patient are stable, urine dopamine level is normal, and there is no abnormal uptake of 18F-FDOPA PET/CT. This study reports a rare case of dopamine-secreting PCC. A multidisciplinary approach and focused examination are needed in metanephrine-negative, high-risk PCC patients.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":" ","pages":"302-307"},"PeriodicalIF":2.8,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10765029/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40578826","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}
Young Ju Choi, Na Yeong Lee, Moon Bae Ahn, Shin Hee Kim, Won Kyoung Cho, Kyoung Soon Cho, Min Ho Jung, Byung-Kyu Suh
{"title":"Usefulness of glycated albumin level as a glycemic index complementing glycosylated hemoglobin in diabetic children and adolescents.","authors":"Young Ju Choi, Na Yeong Lee, Moon Bae Ahn, Shin Hee Kim, Won Kyoung Cho, Kyoung Soon Cho, Min Ho Jung, Byung-Kyu Suh","doi":"10.6065/apem.2244202.101","DOIUrl":"10.6065/apem.2244202.101","url":null,"abstract":"<p><strong>Purpose: </strong>Glycated albumin (GA) is a glycemic marker reflecting the average serum glucose of the previous 2 weeks. This study aimed to evaluate the usefulness of GA as a glycemic index to complement glycosylated hemoglobin (HbA1c) in children and adolescents.</p><p><strong>Methods: </strong>Fifty-four children and adolescents with diabetes mellitus (DM) and 97 children and adolescents without DM (NDM) were enrolled. The correlation between mean blood glucose (MG) and GA compared to HbA1c was investigated in the DM group. The correlation between fasting glucose (FG) and GA compared to HbA1c was investigated in the NDM group. Factors affecting GA, HbA1c, and GA/HbA1c were analyzed.</p><p><strong>Results: </strong>In the DM group, positive correlations were observed between MG and GA (P=0.003), between MG and HbA1c (P=0.001), and between GA and HbA1c (P<0.001). The correlation coefficient between MG and GA did not differ from that between MG and HbA1c in the DM group (P=0.811). Among patients with DM, those whose standardized body mass index standard deviation score (BMI SDS) was ≥2 had a lower GA/HbA1c compared with those whose BMI SDS was <2 (P=0.001). In the NDM group, there were no significant correlations between FG and GA, between FG and HbA1c, or between GA and HbA1c. The NDM subjects whose BMI SDS was ≥2 had a lower GA/HbA1c than did the NDM subjects whose BMI SDS was <2 (P=0.003).</p><p><strong>Conclusion: </strong>GA is comparable with HbA1c in reflecting glycemic control in children and adolescents with DM. GA is affected by obesity in children and adolescents with or without DM.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"28 4","pages":"289-295"},"PeriodicalIF":2.8,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10765020/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139088912","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}
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
{"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":" ","pages":"258-266"},"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":" ","pages":"S12-S13"},"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}
Ji Young Seo, Cha Gon Lee, Hoonsung Choi, Hong Kyu Lee, So Young Lee, Hyo-Jeong Kim, Kyong Yeun Jung, Jin Taek Kim
{"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":" ","pages":"296-301"},"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}