{"title":"Commentary on \"Glycemic control and complications of type 2 diabetes mellitus in children and adolescents during the COVID-19 outbreak\".","authors":"Chong Kun Cheon","doi":"10.6065/apem.2322107edi009","DOIUrl":"10.6065/apem.2322107edi009","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/PMC10765030/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139088909","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}
Da Hye Lee, Sung-Chan Kang, Seung-Sik Hwang, Yun Jeong Lee, Hwa Young Kim, Seong Yong Lee, Choong Ho Shin, Jaehyun Kim
{"title":"Establishing reference values for percentage of appendicular skeletal muscle mass and their association with metabolic syndrome in Korean adolescents.","authors":"Da Hye Lee, Sung-Chan Kang, Seung-Sik Hwang, Yun Jeong Lee, Hwa Young Kim, Seong Yong Lee, Choong Ho Shin, Jaehyun Kim","doi":"10.6065/apem.2244268.134","DOIUrl":"10.6065/apem.2244268.134","url":null,"abstract":"<p><strong>Purpose: </strong>The association between appendicular skeletal muscle mass (ASM) and cardiometabolic risk has been emphasized. We estimated reference values of the percentage of ASM (PASM) and investigated their association with metabolic syndrome (MS) in Korean adolescents.</p><p><strong>Methods: </strong>Data from the Korea National Health and Nutrition Examination Survey performed between 2009 and 2011 were used. Tables and graphs of reference PASM were generated using 1,522 subjects, 807 of whom were boys aged 10 to 18. The relationship between PASM and each component of MS in adolescents was further analyzed in 1,174 subjects, 613 of whom were boys. Moreover, the pediatric simple MS score (PsiMS), the homeostasis model assessment of insulin resistance (HOMA-IR), and the triglyceride-glucose (TyG) index were analyzed. Multivariate linear and logistic regressions adjusting for age, sex, household income, and daily energy intake were performed.</p><p><strong>Results: </strong>In boys, PASM increased with age; the trend was different in girls, in whom PASM declined with age. PsiMS, HOMA-IR, and TyG index showed inverse associations with PASM (PsiMS, β=-0.105, P<0.001; HOMA-IR, β=-0.104, P<0.001; and TyG index, β=-0.013, P<0.001). PASM z-score was negatively associated with obesity (adjusted odds ratio [aOR], 0.22; 95% CI, 0.17-0.30), abdominal obesity (aOR, 0.27; 95% CI, 0.20-0.36), hypertension (aOR, 0.65; 95% CI, 0.52-0.80), and elevated triglycerides (aOR, 0.67; 95% CI, 0.56-0.79).</p><p><strong>Conclusion: </strong>The probability of acquiring MS and insulin resistance decreased as PASM values increased. The reference range may offer clinicians information to aid in the effective management of patients. We urge clinicians to monitor body composition using standard reference databases.</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/PMC10765024/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9405266","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 male with Kleefstra syndrome presented with micropenis.","authors":"Rosie Lee, Mi-Seon Lee, Jung Eun Moon","doi":"10.6065/apem.2244174.087","DOIUrl":"10.6065/apem.2244174.087","url":null,"abstract":"<p><p>Kleefstra syndrome is caused by chromosome 9q34.3 deletion or heterozygous mutations in the euchromatin histone methyl transferase 1 (EHMT1) gene. It can be accompanied by intellectual disability, distinctive facial features, microcephaly, psychiatric disorders, hypotonia in childhood, hearing loss, heart defects, renal defects, epilepsy, speech anomalies, and obesity. Furthermore, genital anomalies are present in 30%-40% of male patients with Kleefstra syndrome, but their mechanisms have not been elucidated. Herein, we report a patient with Kleefstra syndrome presenting with micropenis. The patient was transferred to Kyungpook National University Children's Hospital for management of imperforate anus on the day of birth. Physical examination revealed micropenis with stretched penile length of 0.9 cm and facial dysmorphisms, including hypertelorism and anteverted nares. Chromosomal microarray revealed 424-kb heterozygous deletion at chromosome 9q34.3 (arr[hg19] 9q34.3 (140,234,315-140,659,055)x1). Among the involved main OMIM genes, phenotypically relevant genes were EHMT1 and NSMF. Endocrinological investigation showed low basal gonadotropin and testosterone levels. Anterior pituitary hormones and steroid hormone levels were in the normal range. Testicular function was normal based on human chorionic gonadotropin stimulation test. The patient experienced improvement in penile length growth with intramuscular testosterone enanthate injection initiated at 4 months of age. The purpose of this study is to describe the etiology, endocrine laboratory tests, and treatment of micropenis in Kleefstra syndrome.</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/PMC10765021/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139088905","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":"Association of birth weight with risk of diabetes mellitus in adolescence and early adulthood: analysis of the Indonesian Family Life Survey.","authors":"Ratu Ayu Dewi Sartika, Fathimah Sulistyowati Sigit, Edy Purwanto, Norliyana Aris, Avliya Quratul Marjan, Wahyu Kurnia Yusrin Putra, Sutanto Priyo Hastono","doi":"10.6065/apem.2346146.073","DOIUrl":"10.6065/apem.2346146.073","url":null,"abstract":"<p><strong>Purpose: </strong>We aimed to investigate the association of birth weight with the risk of diabetes mellitus in adolescence and early adulthood in the Indonesian population.</p><p><strong>Methods: </strong>This study analyzed data from the Indonesian Family Life Survey, a longitudinal study of the Indonesian population with repeated measurements at 3 time points (1997, 2007, and 2014). The subjects observed were children aged 0-59 months in 1997, who were 10-15 years old in 2007, and 17-22 years in 2014. We performed a generalized linear model to investigate the association between birth weight at baseline and the level of hemoglobin A1c (HbA1c) at the 2 follow-up periods. We adjusted the association for the characteristics of the children, parents, and household.</p><p><strong>Results: </strong>The mean±standard deviation level of HbA1c was 7.35%±0.95% in 2007 and decreased to 5.30%±0.85% in 2014. The crude β (95% confidence interval [CI]) of the association between birth weight and HbA1c was 0.150 (-0.076, 0.377) in 2007 and 0.146 (-0.060, 0.351) in 2014. After adjustment for the sociodemographic characteristics of the children, parents, and confounding factors, the adjusted β (95% CI) was 1.12 (0.40-1.85) in 2007 and 0.92 (0.35-1.48) in 2014. The HbA1c of the parents, father's employment status, percentage of food expenditure, and underweight were the covariates that had significant associations with HbA1c.</p><p><strong>Conclusion: </strong>HbA1c level was higher in adolescence than in early adulthood. Birth weight was associated with HbA1c level in both periods. The HbA1c of the parents, father's employment, percentage of food expenditure, and underweight partly explained the association between birth weight and the HbA1c level.</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/PMC10765023/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139088907","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}
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":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/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}
Hae In Lee, Soon Sung Kwon, Myeongseob Lee, Su Jin Kim, Kyungchul Song, Ahreum Kwon, Hyun Wook Chae, Ho-Seong Kim, Junghwan Suh
{"title":"Maturity-onset diabetes of the young due to NR0B2 gene mutation.","authors":"Hae In Lee, Soon Sung Kwon, Myeongseob Lee, Su Jin Kim, Kyungchul Song, Ahreum Kwon, Hyun Wook Chae, Ho-Seong Kim, Junghwan Suh","doi":"10.6065/apem.2244284.142","DOIUrl":"10.6065/apem.2244284.142","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/PMC10783928/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139088913","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":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/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":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/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}
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":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/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":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/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}