Pub Date : 2023-03-01DOI: 10.6065/apem.2244026.013
Min Jeong Jang, Chungwoo Shin, Seongkoo Kim, Jae Wook Lee, Nack-Gyun Chung, Bin Cho, Min Ho Jung, Byung-Kyu Suh, Moon Bae Ahn
Purpose: This study aimed to investigate the clinical factors associated with bone mineral density (BMD) among children and adolescents with osteoporosis secondary to treatment for underlying clinical conditions.
Methods: We retrospectively reviewed the medical records of patients aged 10-18 years and evaluated them for lumbar spine BMD (LSBMD) after treatment for underlying diseases, including hemato-oncologic, rheumatologic system, and inflammator y bowel diseases. LSBMD measured by dual-energy x-ray absorptiometry (DXA) performed from March 2019 to March 2021 was evaluated. We analyzed 117 patients who underwent initial DXA after treatment for underlying diseases.
Results: Subjects in this study had multiple underlying diseases: hemato-oncologic (78.6%), rheumatologic (11.1%), and inflammatory bowel diseases (10.3%). There was no significant association between the z-score and bone metabolic markers (P>0.05). However, higher cumulative glucocorticoid (GC) dose significantly reduced LSBMD z-score (P=0.029). Moreover, the association between cumulative dose of GC and initial z-score of LSBMD was significant in logarithmic regression analysis (P=0.003, R2=0.149). GC accumulation was a significant risk factor for vertebral fracture when the initial BMD was evaluated after treatment (P=0.043). Bone metabolic markers did not significantly influence the risk of vertebral fracture.
Conclusion: Initial bone mass density of the lumbar spine evaluated after long-term GC use for underlying diseases is a predictor of further vertebral fractures.
{"title":"Factors affecting bone mineral density in children and adolescents with secondary osteoporosis.","authors":"Min Jeong Jang, Chungwoo Shin, Seongkoo Kim, Jae Wook Lee, Nack-Gyun Chung, Bin Cho, Min Ho Jung, Byung-Kyu Suh, Moon Bae Ahn","doi":"10.6065/apem.2244026.013","DOIUrl":"https://doi.org/10.6065/apem.2244026.013","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to investigate the clinical factors associated with bone mineral density (BMD) among children and adolescents with osteoporosis secondary to treatment for underlying clinical conditions.</p><p><strong>Methods: </strong>We retrospectively reviewed the medical records of patients aged 10-18 years and evaluated them for lumbar spine BMD (LSBMD) after treatment for underlying diseases, including hemato-oncologic, rheumatologic system, and inflammator y bowel diseases. LSBMD measured by dual-energy x-ray absorptiometry (DXA) performed from March 2019 to March 2021 was evaluated. We analyzed 117 patients who underwent initial DXA after treatment for underlying diseases.</p><p><strong>Results: </strong>Subjects in this study had multiple underlying diseases: hemato-oncologic (78.6%), rheumatologic (11.1%), and inflammatory bowel diseases (10.3%). There was no significant association between the z-score and bone metabolic markers (P>0.05). However, higher cumulative glucocorticoid (GC) dose significantly reduced LSBMD z-score (P=0.029). Moreover, the association between cumulative dose of GC and initial z-score of LSBMD was significant in logarithmic regression analysis (P=0.003, R2=0.149). GC accumulation was a significant risk factor for vertebral fracture when the initial BMD was evaluated after treatment (P=0.043). Bone metabolic markers did not significantly influence the risk of vertebral fracture.</p><p><strong>Conclusion: </strong>Initial bone mass density of the lumbar spine evaluated after long-term GC use for underlying diseases is a predictor of further vertebral fractures.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/1b/b5/apem-2244026-013.PMC10073031.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9259923","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}
Pub Date : 2023-03-01DOI: 10.6065/apem.2142116.058
Sukdong Yoo, Ju Young Yoon, Changwon Keum, Chong Kun Cheon
Follicle-stimulating hormone receptor (FSHR) mutation is a rare cause of amenorrhea. We report the first case of FSHR mutations in Korea. Two female siblings, aged 16 (patient 1) and 19 (patient 2) years, were referred to the pediatric endocrinology clinic because of primary amenorrhea despite normal breast budding. Gonadotropin-releasing hormone stimulation test showed markedly elevated luteinizing hormone and follicle-stimulating hormone with a relatively low level of estrogen, suggesting hypergonadotropic hypogonadism. Pelvic magnetic resonance imaging revealed a bicornuate uterus in patient 1 and uterine hypoplasia with thinning of the endometrium in patient 2. The progesterone challenge test revealed no withdrawal of bleeding. After two months of administration of combined oral contraceptives, menarche was initiated at regular intervals. To determine the genetic cause of amenorrhea in these patients, whole exome sequencing (WES) was performed, which revealed a compound heterozygous FSHR mutation, c.1364T>G (p.Val455Gly) on exon 10, and c.374T>G (p.Leu125Arg) on exon 4; both of which were novel mutations and were confirmed by Sanger sequencing. The patients maintained regular menstruation and improved bone mineral density while taking combined oral contraceptives, calcium, and vitamin D. Therefore, FSHR mutations can be the cause of amenorrhea in Koreans, and WES facilitates diagnosing the rare cause of amenorrhea.
{"title":"The first case of novel variants of the FSHR mutation causing primary amenorrhea in 2 siblings in Korea.","authors":"Sukdong Yoo, Ju Young Yoon, Changwon Keum, Chong Kun Cheon","doi":"10.6065/apem.2142116.058","DOIUrl":"https://doi.org/10.6065/apem.2142116.058","url":null,"abstract":"<p><p>Follicle-stimulating hormone receptor (FSHR) mutation is a rare cause of amenorrhea. We report the first case of FSHR mutations in Korea. Two female siblings, aged 16 (patient 1) and 19 (patient 2) years, were referred to the pediatric endocrinology clinic because of primary amenorrhea despite normal breast budding. Gonadotropin-releasing hormone stimulation test showed markedly elevated luteinizing hormone and follicle-stimulating hormone with a relatively low level of estrogen, suggesting hypergonadotropic hypogonadism. Pelvic magnetic resonance imaging revealed a bicornuate uterus in patient 1 and uterine hypoplasia with thinning of the endometrium in patient 2. The progesterone challenge test revealed no withdrawal of bleeding. After two months of administration of combined oral contraceptives, menarche was initiated at regular intervals. To determine the genetic cause of amenorrhea in these patients, whole exome sequencing (WES) was performed, which revealed a compound heterozygous FSHR mutation, c.1364T>G (p.Val455Gly) on exon 10, and c.374T>G (p.Leu125Arg) on exon 4; both of which were novel mutations and were confirmed by Sanger sequencing. The patients maintained regular menstruation and improved bone mineral density while taking combined oral contraceptives, calcium, and vitamin D. Therefore, FSHR mutations can be the cause of amenorrhea in Koreans, and WES facilitates diagnosing the rare cause of amenorrhea.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/34/b0/apem-2142116-058.PMC10073021.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9265089","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}
Pub Date : 2023-03-01DOI: 10.6065/apem.2244044.022
Yunsoo Choe, Yun Jeong Lee, Choong Ho Shin, Eun-Jae Chung, Young Ah Lee
Purpose: Hypoparathyroidism (hypoPTH) is the most common complication following thyroidectomy. We investigated the frequency and risk factors of hypoPTH after total thyroidectomy (TT) in pediatric patients with thyroid cancer.
Methods: This retrospective study included 98 patients younger than 20 years who were diagnosed with thyroid cancer after T T during 1990-2018 and followed for more than 2 years at Seoul National University Hospital. HypoPTH was defined as receiving active vitamin D (1-hydroxycholecalciferol or 1,25-dihydroxycholecalciferol) after surgery.
Results: The study included 27 boys (27.6%) and 71 girls (72.4%). The mean age at diagnosis was 14.9±3.7 years. HypoPTH occurred in 43 patients (43.9%). Twenty-one patients (21.4%) discontinued active vitamin D less than 6 months after surgery, while 14 (14.3%) continued active vitamin D for more than 2 years. Tumor multifocality (odds ratio [OR], 3.7 vs. single tumor; P=0.013) and preoperative calcium level (OR, 0.2; P=0.028) were independent predictors of hypoPTH immediately after TT. In addition, age (OR, 0.8; P=0.011) and preoperative calcium level (OR, 0.04; P=0.014) significantly decreased the risk for persistent hypoPTH requiring active vitamin D for more than 2 years.
Conclusion: HypoPTH occurred in 43.9% of pediatric thyroid cancer patients after TT in this study. Among them, one-third of patients continued active vitamin D medication for more than 2 years, which was predicted by young age and low preoperative calcium level.
{"title":"Risk factors of postoperative hypoparathyroidism after total thyroidectomy in pediatric patients with thyroid cancer.","authors":"Yunsoo Choe, Yun Jeong Lee, Choong Ho Shin, Eun-Jae Chung, Young Ah Lee","doi":"10.6065/apem.2244044.022","DOIUrl":"https://doi.org/10.6065/apem.2244044.022","url":null,"abstract":"<p><strong>Purpose: </strong>Hypoparathyroidism (hypoPTH) is the most common complication following thyroidectomy. We investigated the frequency and risk factors of hypoPTH after total thyroidectomy (TT) in pediatric patients with thyroid cancer.</p><p><strong>Methods: </strong>This retrospective study included 98 patients younger than 20 years who were diagnosed with thyroid cancer after T T during 1990-2018 and followed for more than 2 years at Seoul National University Hospital. HypoPTH was defined as receiving active vitamin D (1-hydroxycholecalciferol or 1,25-dihydroxycholecalciferol) after surgery.</p><p><strong>Results: </strong>The study included 27 boys (27.6%) and 71 girls (72.4%). The mean age at diagnosis was 14.9±3.7 years. HypoPTH occurred in 43 patients (43.9%). Twenty-one patients (21.4%) discontinued active vitamin D less than 6 months after surgery, while 14 (14.3%) continued active vitamin D for more than 2 years. Tumor multifocality (odds ratio [OR], 3.7 vs. single tumor; P=0.013) and preoperative calcium level (OR, 0.2; P=0.028) were independent predictors of hypoPTH immediately after TT. In addition, age (OR, 0.8; P=0.011) and preoperative calcium level (OR, 0.04; P=0.014) significantly decreased the risk for persistent hypoPTH requiring active vitamin D for more than 2 years.</p><p><strong>Conclusion: </strong>HypoPTH occurred in 43.9% of pediatric thyroid cancer patients after TT in this study. Among them, one-third of patients continued active vitamin D medication for more than 2 years, which was predicted by young age and low preoperative calcium level.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/ad/4c/apem-2244044-022.PMC10073022.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9259926","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}
Purpose: This study aimed to describe the prevalence of vitamin D deficiency in Indonesian children and adolescents.
Methods: This was a meta-analysis of prevalence using the Hartung-Knapp-Sidik-Jonkman method with a random effects model. A prediction interval was used to estimate true effects. We searched PubMed, MEDLINE, Cochrane Library, Science Direct, Google Scholar, and 3 Indonesian databases (Indonesian Scientific Journal Database, Neliti, and Indonesia One Search). We included cross-sectional or case-control studies that provided data on the prevalence of vitamin D deficiency. We excluded case reports, case series, cohort studies, or studies outside Indonesia. We computed point prevalence by dividing the number of children with hypovitaminosis D by the total number of subjects in that study. This review was registered with PROSPERO (International Prospective Register of Systematic Reviews) (CRD42022329814).
Results: Of 1,397 manuscripts identified, 7 were included in this review. A total of 5,870 children were included in this meta-analysis, ranging in age from 6 months to 19 years. The prevalence of hypovitaminosis D in Indonesia was calculated as 33% (95% confidence interval [CI], 9-56) and was higher in females (60% [95% CI, 58-62]) than in males (40% [95% CI, 38-42]). Mean serum vitamin D level was 22.74 ng/mL (95% CI, 16.95-30.51) with a prediction interval of 15.96 ng/mL to 29.52 ng/mL.
Conclusion: Vitamin D deficiency is a public health emergency in Indonesia. Strategies to detect and treat vitamin D deficiency in Indonesian children and adolescents should be implemented immediately.
{"title":"Vitamin D deficiency is a public health emergency among Indonesian children and adolescents: a systematic review and meta-analysis of prevalence.","authors":"Gilbert Sterling Octavius, Ayesha Shakila, Mariska Meliani, Anita Halim","doi":"10.6065/apem.2244170.085","DOIUrl":"https://doi.org/10.6065/apem.2244170.085","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to describe the prevalence of vitamin D deficiency in Indonesian children and adolescents.</p><p><strong>Methods: </strong>This was a meta-analysis of prevalence using the Hartung-Knapp-Sidik-Jonkman method with a random effects model. A prediction interval was used to estimate true effects. We searched PubMed, MEDLINE, Cochrane Library, Science Direct, Google Scholar, and 3 Indonesian databases (Indonesian Scientific Journal Database, Neliti, and Indonesia One Search). We included cross-sectional or case-control studies that provided data on the prevalence of vitamin D deficiency. We excluded case reports, case series, cohort studies, or studies outside Indonesia. We computed point prevalence by dividing the number of children with hypovitaminosis D by the total number of subjects in that study. This review was registered with PROSPERO (International Prospective Register of Systematic Reviews) (CRD42022329814).</p><p><strong>Results: </strong>Of 1,397 manuscripts identified, 7 were included in this review. A total of 5,870 children were included in this meta-analysis, ranging in age from 6 months to 19 years. The prevalence of hypovitaminosis D in Indonesia was calculated as 33% (95% confidence interval [CI], 9-56) and was higher in females (60% [95% CI, 58-62]) than in males (40% [95% CI, 38-42]). Mean serum vitamin D level was 22.74 ng/mL (95% CI, 16.95-30.51) with a prediction interval of 15.96 ng/mL to 29.52 ng/mL.</p><p><strong>Conclusion: </strong>Vitamin D deficiency is a public health emergency in Indonesia. Strategies to detect and treat vitamin D deficiency in Indonesian children and adolescents should be implemented immediately.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/8c/70/apem-2244170-085.PMC10073023.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9268502","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}
Pub Date : 2023-03-01DOI: 10.6065/apem.2142250.125
Eun Hye Yang, Ha Young Jo, Su Jeong Park, Hye Won Yoo, Soo-Han Choi, Hye-Young Kim, Kyung Hee Park, Young Mi Kim, Min Jung Kwak
Purpose: The aim of this study was to examine whether gonadotropin-releasing hormone (GnRH) agonist treatment is effective in preserving final height in patients with central precocious puberty (CPP) or early puberty (EP).
Methods: The medical records of 40 patients with CPP and 206 patients with EP who completed GnRH agonist treatment following diagnosis were analyzed retrospectively. Height and height standard deviation (height SDS) scores based on bone age (BA) were measured and calculated at baseline, after treatment completion, and at final follow-up to compare changes within and between groups. Predicted adult height (PAH) was estimated by the height corresponding to height SDS for BA in girls at 18 years 11 months of age based on the growth chart.
Results: PAH at baseline did not differ significantly between the CPP group (153.67±4.95) and the EP group (154.77±3.72). In the CPP group, PAH significantly increased at treatment completion (156.01±4.61) and at final follow-up (158.52±6.04) compared to baseline. In the EP group, PAH significantly increased at treatment completion (157.7±3.60) and at final follow-up (159.31±4.26) compared to baseline. The increase in PAH at all timepoints compared to baseline did not significantly differ between the CPP and EP groups.
Conclusion: Both CPP and EP groups had significantly greater PAH after treatment, with no difference in the amount of increase between groups. These results show that GnRH agonist treatment can help increase final height even in patients diagnosed with EP after the age of 8 years.
{"title":"Effect of gonadotropin-releasing hormone agonist treatment on near final height in girls with central precocious puberty and early puberty.","authors":"Eun Hye Yang, Ha Young Jo, Su Jeong Park, Hye Won Yoo, Soo-Han Choi, Hye-Young Kim, Kyung Hee Park, Young Mi Kim, Min Jung Kwak","doi":"10.6065/apem.2142250.125","DOIUrl":"https://doi.org/10.6065/apem.2142250.125","url":null,"abstract":"<p><strong>Purpose: </strong>The aim of this study was to examine whether gonadotropin-releasing hormone (GnRH) agonist treatment is effective in preserving final height in patients with central precocious puberty (CPP) or early puberty (EP).</p><p><strong>Methods: </strong>The medical records of 40 patients with CPP and 206 patients with EP who completed GnRH agonist treatment following diagnosis were analyzed retrospectively. Height and height standard deviation (height SDS) scores based on bone age (BA) were measured and calculated at baseline, after treatment completion, and at final follow-up to compare changes within and between groups. Predicted adult height (PAH) was estimated by the height corresponding to height SDS for BA in girls at 18 years 11 months of age based on the growth chart.</p><p><strong>Results: </strong>PAH at baseline did not differ significantly between the CPP group (153.67±4.95) and the EP group (154.77±3.72). In the CPP group, PAH significantly increased at treatment completion (156.01±4.61) and at final follow-up (158.52±6.04) compared to baseline. In the EP group, PAH significantly increased at treatment completion (157.7±3.60) and at final follow-up (159.31±4.26) compared to baseline. The increase in PAH at all timepoints compared to baseline did not significantly differ between the CPP and EP groups.</p><p><strong>Conclusion: </strong>Both CPP and EP groups had significantly greater PAH after treatment, with no difference in the amount of increase between groups. These results show that GnRH agonist treatment can help increase final height even in patients diagnosed with EP after the age of 8 years.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a2/85/apem-2142250-125.PMC10073026.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9624895","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}
Pub Date : 2023-03-01Epub Date: 2023-03-31DOI: 10.6065/apem.2244214.107
Kyeong Eun Oh, Yu Jin Kim, Ye Rim Oh, Eungu Kang, Hyo-Kyoung Nam, Young-Jun Rhie, Kee-Hyoung Lee
{"title":"Commentary on "The prevalence of diabetic peripheral neuropathy in youth with diabetes mellitus".","authors":"Kyeong Eun Oh, Yu Jin Kim, Ye Rim Oh, Eungu Kang, Hyo-Kyoung Nam, Young-Jun Rhie, Kee-Hyoung Lee","doi":"10.6065/apem.2244214.107","DOIUrl":"10.6065/apem.2244214.107","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/cd/a4/apem-2322046edi06.PMC10073025.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9257269","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}
Pub Date : 2023-03-01DOI: 10.6065/apem.2244002.001
Ka Hyun Lee, So Yun Park, Jae Hyun Park, Seokjin Kang
Purpose: Recent reports indicate that small for gestational age (SGA) could be a risk factor for delayed thyroid stimulating hormone (dTSH) elevation in preterm infants. The development of dTSH elevation in SGA late-preterm infants with a gestational age of 34-36 weeks has been investigated in only a few studies.
Methods: In the present retrospective study, 70 SGA infants and 86 sex- and gestational age-matched controls who presented with normal results on initial thyroid function testing were included.
Results: SGA infants had a significantly higher prevalence of dTSH elevation (15.7% vs. 3.5%, P=0.009) compared with appropriate-for-gestational age infants. In SGA infants, the mean age at the time of dTSH was 24 days. Development of dTSH was associated with SGA and medical treatment with dopamine or furosemide. After adjusting for confounding factors, multiple logistic regression analysis showed SGA was a significant risk factor for the development of dTSH elevation (odds ratio, 23.2; 95% confidence interval, 2.27-236.91; P=0.008).
Conclusion: SGA infants may be at risk for dTSH and clinicians could consider a second thyroid screening test around the age of 1 month.
目的:最近的报道表明,小胎龄(SGA)可能是早产婴儿迟发性促甲状腺激素(dTSH)升高的危险因素。仅在少数研究中调查了孕龄为34-36周的SGA晚期早产儿dTSH升高的发展。方法:在本回顾性研究中,包括70名SGA婴儿和86名性别和胎龄匹配的对照组,他们的初始甲状腺功能测试结果正常。结果:SGA婴儿dTSH升高的发生率明显高于正常胎龄婴儿(15.7% vs. 3.5%, P=0.009)。在SGA婴儿中,dsh时的平均年龄为24天。dTSH的发生与SGA和多巴胺或速尿治疗有关。在校正混杂因素后,多元logistic回归分析显示SGA是dTSH升高的重要危险因素(优势比,23.2;95%置信区间为2.27-236.91;P = 0.008)。结论:SGA婴儿可能有dTSH的风险,临床医生可以考虑在1个月左右进行第二次甲状腺筛查试验。
{"title":"Development of delayed thyroid stimulating hormone elevation in small-for-gestational-age infants: is a second screening needed?","authors":"Ka Hyun Lee, So Yun Park, Jae Hyun Park, Seokjin Kang","doi":"10.6065/apem.2244002.001","DOIUrl":"https://doi.org/10.6065/apem.2244002.001","url":null,"abstract":"<p><strong>Purpose: </strong>Recent reports indicate that small for gestational age (SGA) could be a risk factor for delayed thyroid stimulating hormone (dTSH) elevation in preterm infants. The development of dTSH elevation in SGA late-preterm infants with a gestational age of 34-36 weeks has been investigated in only a few studies.</p><p><strong>Methods: </strong>In the present retrospective study, 70 SGA infants and 86 sex- and gestational age-matched controls who presented with normal results on initial thyroid function testing were included.</p><p><strong>Results: </strong>SGA infants had a significantly higher prevalence of dTSH elevation (15.7% vs. 3.5%, P=0.009) compared with appropriate-for-gestational age infants. In SGA infants, the mean age at the time of dTSH was 24 days. Development of dTSH was associated with SGA and medical treatment with dopamine or furosemide. After adjusting for confounding factors, multiple logistic regression analysis showed SGA was a significant risk factor for the development of dTSH elevation (odds ratio, 23.2; 95% confidence interval, 2.27-236.91; P=0.008).</p><p><strong>Conclusion: </strong>SGA infants may be at risk for dTSH and clinicians could consider a second thyroid screening test around the age of 1 month.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/aa/b8/apem-2244002-001.PMC10073029.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9259925","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}
Pub Date : 2023-03-01Epub Date: 2022-01-17DOI: 10.6065/apem.2142108.054
Sumin Lee, Sukdong Yoo, Ju Young Yoon, Chong Kun Cheon, Young A Kim
The hyperglycemic hyperosmolar state (HHS) is considered the most fatal complication of type 2 diabetes mellitus (DM). The number of case reports describing pediatric HHS has increased recently in parallel with obesity and the prevalence of type 2 DM in pediatric patients. In this study, we investigated the patient characteristics and outcomes of HHS in 9 adolescents with obesity and type 2 DM. Almost all patients exhibited mixed clinical features of HHS and diabetic ketoacidosis (DKA), including characteristics such as hyperosmolality and ketoacidosis. These features made definitive diagnosis difficult; 5 out of 9 patients were initially diagnosed with DKA and were treated accordingly. Patients who were initially diagnosed with HHS received a more vigorous and appropriate fluid replacement than other patients did. No patients died, although 3 exhibited complications, such as arrhythmia, acute kidney injury requiring renal replacement therapy, rhabdomyolysis, and acute pancreatitis. Hyperosmolality with consequent severe dehydration is considered a significant factor contributing to the outcomes of patients with HHS. Therefore, early recognition of hyperosmolality is crucial for an appropriate diagnosis and adequate fluid rehydration to restore perfusion in the early period of treatment to improve patient outcomes for this rare but serious emerging condition in pediatric patients.
{"title":"Pediatric management challenges of hyperglycemic hyperosmolar state: case series of Korean adolescents with type 2 diabetes.","authors":"Sumin Lee, Sukdong Yoo, Ju Young Yoon, Chong Kun Cheon, Young A Kim","doi":"10.6065/apem.2142108.054","DOIUrl":"10.6065/apem.2142108.054","url":null,"abstract":"<p><p>The hyperglycemic hyperosmolar state (HHS) is considered the most fatal complication of type 2 diabetes mellitus (DM). The number of case reports describing pediatric HHS has increased recently in parallel with obesity and the prevalence of type 2 DM in pediatric patients. In this study, we investigated the patient characteristics and outcomes of HHS in 9 adolescents with obesity and type 2 DM. Almost all patients exhibited mixed clinical features of HHS and diabetic ketoacidosis (DKA), including characteristics such as hyperosmolality and ketoacidosis. These features made definitive diagnosis difficult; 5 out of 9 patients were initially diagnosed with DKA and were treated accordingly. Patients who were initially diagnosed with HHS received a more vigorous and appropriate fluid replacement than other patients did. No patients died, although 3 exhibited complications, such as arrhythmia, acute kidney injury requiring renal replacement therapy, rhabdomyolysis, and acute pancreatitis. Hyperosmolality with consequent severe dehydration is considered a significant factor contributing to the outcomes of patients with HHS. Therefore, early recognition of hyperosmolality is crucial for an appropriate diagnosis and adequate fluid rehydration to restore perfusion in the early period of treatment to improve patient outcomes for this rare but serious emerging condition in pediatric patients.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.8,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/64/77/apem-2142108-054.PMC10073033.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9253596","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}
Purpose: Diabetic neuropathy (DN) is a serious complication in diabetes mellitus. We aimed to determine the prevalence of DN in pediatric-onset diabetes in a tertiary care center and to assess the sensitivity and specificity of monofilament testing and noninvasive screening to diagnose DN compared with the gold standard nerve conduction study (NCS).
Methods: Sixty-five Thai children and adolescents (39 females) diagnosed with diabetes before 15 years of age were included. All subjects were screened for DN by foot and neurological examinations, light touch sensation by 10 g Semmes-Weinstein monofilaments, and the Michigan Neuropathy Screening Instrument (MNSI). NCSs were used as the gold standard for diagnosis of DN.
Results: Fifty-eight patients had type 1 diabetes ( T1D), 5 patients had type 2 diabetes, and 2 patients had other types of diabetes. The mean age was 17.7±4.6 years (8-33 years). The prevalence of DN in this cohort was 12.3% by NCS. All subjects were asymptomatic. Mean diabetes duration did not differ between the groups (with DN 8.0±3.0 years vs. no DN 8.2±5.0 years). Notably, one patient with T1D developed DN within 3 years after diagnosis. Poor glycemic control was a significant risk factor for DN. Glycosylated hemoglobin was higher in the DN group (10.6%±2.3% vs. 8.5%±1.6%, P=0.008). The occurrence of diabetic nephropathy was associated with DN (prevalence rate ratio, 4.97; 95% confidence interval, 1.5-16.46). Foot and neurological examinations, monofilaments, and the MNSI failed to detect DN in all subjects with abnormal NCS.
Conclusion: The prevalence of DN in pediatric-onset diabetes is not uncommon but mainly is subclinical. Poor glycemic control is the main risk factor. Noninvasive screening tests for DN exhibited poor diagnostic sensitivity in the pediatric population.
目的:糖尿病性神经病变(DN)是糖尿病的严重并发症。我们的目的是确定在三级保健中心儿科发病糖尿病中DN的患病率,并与金标准神经传导研究(NCS)相比,评估单丝检测和无创筛查诊断DN的敏感性和特异性。方法:65名泰国儿童和青少年(39名女性)在15岁前被诊断为糖尿病。所有受试者均通过足部和神经学检查、10 g semes - weinstein单丝轻触感和密歇根神经病筛查仪(MNSI)筛查DN。ncs作为诊断DN的金标准。结果:1型糖尿病(T1D) 58例,2型糖尿病5例,其他2型糖尿病2例。平均年龄17.7±4.6岁(8 ~ 33岁)。NCS显示,该队列中DN的患病率为12.3%。所有受试者均无症状。两组患者的平均糖尿病病程无差异(糖尿病8.0±3.0年vs无糖尿病8.2±5.0年)。值得注意的是,1例T1D患者在诊断后3年内发展为DN。血糖控制不良是DN的重要危险因素。糖化血红蛋白在DN组较高(10.6%±2.3% vs 8.5%±1.6%,P=0.008)。糖尿病肾病的发生与DN有相关性(患病率比4.97;95%置信区间为1.5-16.46)。在所有NCS异常的受试者中,足部和神经系统检查、单丝和MNSI均未检测到DN。结论:小儿起病糖尿病中DN的患病率并不少见,但以亚临床为主。血糖控制不良是主要的危险因素。无创DN筛查试验在儿科人群中表现出较差的诊断敏感性。
{"title":"The prevalence of diabetic peripheral neuropathy in youth with diabetes mellitus.","authors":"Piengjai Sophausvaporn, Jariya Boonhong, Taninee Sahakitrungruang","doi":"10.6065/apem.2244092.046","DOIUrl":"https://doi.org/10.6065/apem.2244092.046","url":null,"abstract":"<p><strong>Purpose: </strong>Diabetic neuropathy (DN) is a serious complication in diabetes mellitus. We aimed to determine the prevalence of DN in pediatric-onset diabetes in a tertiary care center and to assess the sensitivity and specificity of monofilament testing and noninvasive screening to diagnose DN compared with the gold standard nerve conduction study (NCS).</p><p><strong>Methods: </strong>Sixty-five Thai children and adolescents (39 females) diagnosed with diabetes before 15 years of age were included. All subjects were screened for DN by foot and neurological examinations, light touch sensation by 10 g Semmes-Weinstein monofilaments, and the Michigan Neuropathy Screening Instrument (MNSI). NCSs were used as the gold standard for diagnosis of DN.</p><p><strong>Results: </strong>Fifty-eight patients had type 1 diabetes ( T1D), 5 patients had type 2 diabetes, and 2 patients had other types of diabetes. The mean age was 17.7±4.6 years (8-33 years). The prevalence of DN in this cohort was 12.3% by NCS. All subjects were asymptomatic. Mean diabetes duration did not differ between the groups (with DN 8.0±3.0 years vs. no DN 8.2±5.0 years). Notably, one patient with T1D developed DN within 3 years after diagnosis. Poor glycemic control was a significant risk factor for DN. Glycosylated hemoglobin was higher in the DN group (10.6%±2.3% vs. 8.5%±1.6%, P=0.008). The occurrence of diabetic nephropathy was associated with DN (prevalence rate ratio, 4.97; 95% confidence interval, 1.5-16.46). Foot and neurological examinations, monofilaments, and the MNSI failed to detect DN in all subjects with abnormal NCS.</p><p><strong>Conclusion: </strong>The prevalence of DN in pediatric-onset diabetes is not uncommon but mainly is subclinical. Poor glycemic control is the main risk factor. Noninvasive screening tests for DN exhibited poor diagnostic sensitivity in the pediatric population.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/a7/99/apem-2244092-046.PMC10073032.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9267140","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}
Pub Date : 2023-03-01DOI: 10.6065/apem.2142134.067
Ari Song, Minji Im, Min-Sun Kim, Eu Seon Noh, Chiwoo Kim, Jahyun Jang, Sae-Mi Lee, Chang-Seok Ki, Sung Yoon Cho, Dong-Kyu Jin
Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive skeletal changes in male patients. Females with CLS are variably affected, complicating diagnosis. Here, we describe the clinical and molecular findings in a female Korean child with CLS and review the associated literature. A 5-year-old girl presented with short stature and developmental delays. She had a coarse facial appearance characterized by a prominent forehead, hypertelorism, thick lips, and hypodontia. She also had puffy tapering fingers and pectus excavatum. We performed exome sequencing and identified a novel, likely pathogenic, heterozygous variant, c.326_338delinsCTCGAGAC (p.Val109Alafs*10), in RPS6KA3 (NM_004586.2). This is the first Korean female genetically diagnosed with CLS. In contrast to the delayed bone age reported in previous studies, our patient showed advanced bone age and central precocious puberty. CLS should be considered as a differential diagnosis of short stature, tapering fingers, and developmental delay. We suggest that molecular techniques can be a useful tool for diagnosis of rare disorders such as CLS because such conditions are not simple, and the associated spectrum of phenotypes can vary.
{"title":"First female Korean child with Coffin-Lowry syndrome: a novel variant in RPS6KA3 diagnosed by exome sequencing and a literature review.","authors":"Ari Song, Minji Im, Min-Sun Kim, Eu Seon Noh, Chiwoo Kim, Jahyun Jang, Sae-Mi Lee, Chang-Seok Ki, Sung Yoon Cho, Dong-Kyu Jin","doi":"10.6065/apem.2142134.067","DOIUrl":"https://doi.org/10.6065/apem.2142134.067","url":null,"abstract":"<p><p>Coffin-Lowry syndrome (CLS, OMIM # 303600) is a rare X-linked disorder caused by mutations in RPS6KA3. CLS is characterized by facial dysmorphism, digit abnormalities, developmental delays, growth retardation, and progressive skeletal changes in male patients. Females with CLS are variably affected, complicating diagnosis. Here, we describe the clinical and molecular findings in a female Korean child with CLS and review the associated literature. A 5-year-old girl presented with short stature and developmental delays. She had a coarse facial appearance characterized by a prominent forehead, hypertelorism, thick lips, and hypodontia. She also had puffy tapering fingers and pectus excavatum. We performed exome sequencing and identified a novel, likely pathogenic, heterozygous variant, c.326_338delinsCTCGAGAC (p.Val109Alafs*10), in RPS6KA3 (NM_004586.2). This is the first Korean female genetically diagnosed with CLS. In contrast to the delayed bone age reported in previous studies, our patient showed advanced bone age and central precocious puberty. CLS should be considered as a differential diagnosis of short stature, tapering fingers, and developmental delay. We suggest that molecular techniques can be a useful tool for diagnosis of rare disorders such as CLS because such conditions are not simple, and the associated spectrum of phenotypes can vary.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2023-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/23/4f/apem-2142134-067.PMC10073030.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9253594","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}