Journal of pediatric endocrinology & metabolism : JPEM最新文献

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Adiposity measures in screening for metabolic syndrome among Chinese children and adolescents. 中国儿童和青少年代谢综合征筛查中的肥胖措施。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2022-03-22 Print Date: 2022-05-25 DOI: 10.1515/jpem-2021-0307
Zhaoxie Tang, Chen Yang, Hao Zheng, Jiajia Jing, Xiuhong Li, Yanna Zhu
{"title":"Adiposity measures in screening for metabolic syndrome among Chinese children and adolescents.","authors":"Zhaoxie Tang,&nbsp;Chen Yang,&nbsp;Hao Zheng,&nbsp;Jiajia Jing,&nbsp;Xiuhong Li,&nbsp;Yanna Zhu","doi":"10.1515/jpem-2021-0307","DOIUrl":"https://doi.org/10.1515/jpem-2021-0307","url":null,"abstract":"<p><strong>Background: </strong>Existing various and complicated metabolic syndrome (MetS) definitions have contributed to the difficulty in assessing MetS in children and adolescents, and therefore it is urgently needed to develop a convenient and effective screening tool for pediatric MetS. This study aimed to identify the optimal adiposity measure to screen for pediatric MetS.</p><p><strong>Methods: </strong>The cross-sectional data was collected from 8,150 children and adolescents aged 7-17 y living in southern China. Anthropometric indices, blood lipids, and serum glucose were determined. Results of two commonly used MetS definitions were compared: International Diabetes Federation (IDF) and National Cholesterol Education Program Adult Treatment Panel Ⅲ (NCEP-ATP) modified by Cook. Receiver operating characteristic curve analyses were performed and areas under the curve (AUCs) were calculated to determine the optimal index for MetS screening.</p><p><strong>Results: </strong>MetS prevalence assessed by NCEP-ATP was significantly higher than that by IDF (6.2% vs. 1.5%, p<0.001). Waist-to-height ratio (WHtR) showed the highest screening power for MetS defined by both IDF and NCEP-ATP (AUC 0.932 and 0.900, respectively), and its optimal cut-off point was 0.48 by both IDF and NCEP-ATP definition (sensitivity 0.944 and 0.847, specificity 0.800 and 0.830, respectively), regardless of age or sex. When taking sex diversity into account, the optimal WHtR cut-off point was 0.49 (IDF) or 0.50 (NCEP-ATP) in boys, and 0.46 (both definitions) in girls.</p><p><strong>Conclusions: </strong>Among children and adolescents aged 7-17 y in southern China, a WHtR greater than 0.48 can be a simple but effective screening tool for MetS.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"617-625"},"PeriodicalIF":1.4,"publicationDate":"2022-03-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40312703","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Calcitonin and complementary biomarkers in the diagnosis of hereditary medullary thyroid carcinoma in children and adolescents. 降钙素和补充生物标志物在儿童和青少年遗传性甲状腺髓样癌诊断中的作用。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2021-09-21 Print Date: 2021-12-20 DOI: 10.1515/jpem-2021-0163
Felix Eckelt, Roland Pfaeffle, Wieland Kiess, Juergen Kratzsch
{"title":"Calcitonin and complementary biomarkers in the diagnosis of hereditary medullary thyroid carcinoma in children and adolescents.","authors":"Felix Eckelt,&nbsp;Roland Pfaeffle,&nbsp;Wieland Kiess,&nbsp;Juergen Kratzsch","doi":"10.1515/jpem-2021-0163","DOIUrl":"https://doi.org/10.1515/jpem-2021-0163","url":null,"abstract":"<p><strong>Objectives: </strong>Medullary thyroid carcinoma (MTC) is a rare malignancy that is effectively curable by surgery. Unlike in adults, hereditary MTC has a predominant role in children. A fast and safe diagnosis is important to assure the good prognosis for the patients. A major cornerstone is the assessment of biomarkers, but the interpretation must respect their pre-, post- and analytical features. Especially calcitonin (Ctn) is a challenging biomarker in daily laboratory diagnostics. However, Ctn is of particular relevance for the diagnostic in MTC. The American Thyroid Association recommends thyroidectomy if the upper reference range of Ctn is exceeded. Interestingly, age-dependent reference ranges for children and adolescents have become available only recently for Ctn assays. With this review, we aim to highlight the importance of a timely diagnosis of MTC in children and adolescents.</p><p><strong>Content: </strong>Recent developments in pediatric biochemical diagnostics of MTC were summarized. This includes guidance on interpretation of <i>RET</i>, Ctn, procalcitonin, carcinoembryonic antigen, carbohydrate antigen 19-9, and chromogranin A.</p><p><strong>Summary: </strong>Currently, Ctn is the most investigated biomarker in the diagnosis of MTC in children and adolescents. Other biomarkers as PCT suggest complementary evidence about pediatric MTC but their interpretation based largely on adult's data. A successful treatment of MTC requires, besides results of biomarkers, information about medical history, RET gene analysis and recent guideline knowledge.</p><p><strong>Outlook: </strong>More research is required to validate complementary biomarkers of Ctn in children. Additionally, the effect of different confounder on pediatric Ctn levels has to be further clarified.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1491-1504"},"PeriodicalIF":1.4,"publicationDate":"2021-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39433455","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Long-term effect of conventional phosphate and calcitriol treatment on metabolic recovery and catch-up growth in children with PHEX mutation. 常规磷酸盐和骨化三醇治疗对PHEX突变儿童代谢恢复和追赶生长的长期影响。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2021-09-16 Print Date: 2021-12-20 DOI: 10.1515/jpem-2021-0387
Ayfer Alikasifoglu, Yagmur Unsal, Elmas Nazli Gonc, Zeynep Alev Ozon, Nurgun Kandemir, Mehmet Alikasifoglu
{"title":"Long-term effect of conventional phosphate and calcitriol treatment on metabolic recovery and catch-up growth in children with PHEX mutation.","authors":"Ayfer Alikasifoglu,&nbsp;Yagmur Unsal,&nbsp;Elmas Nazli Gonc,&nbsp;Zeynep Alev Ozon,&nbsp;Nurgun Kandemir,&nbsp;Mehmet Alikasifoglu","doi":"10.1515/jpem-2021-0387","DOIUrl":"https://doi.org/10.1515/jpem-2021-0387","url":null,"abstract":"<p><strong>Objectives: </strong>Hereditary hypophosphatemic rickets (HR) is conventionally treated with phosphate and calcitriol. Exploring genotype and phenotypic spectrum of X-linked hypophosphatemic rickets (XLHR), focusing on short-term, long-term, and pubertal impact of conventional treatment was aimed.</p><p><strong>Methods: </strong>Sixteen patients from 12 unrelated families with HR were analyzed for phosphate regulating endopeptidase homolog X-linked (<i>PHEX)</i> mutation. Initially Sanger sequencing analysis was performed. If <i>PHEX</i> mutation was not detected, multiplex ligation-dependent probe amplification (MLPA) was performed. If molecular defect was detected, first-degree relatives were analyzed. Thirteen patients (81%) and five first-degree relatives with XLHR were evaluated for genotype-phenotype or gender-phenotype correlation. Clinical characteristics and response to conventional treatment were determined retrospectively.</p><p><strong>Results: </strong>Nine different <i>PHEX</i> mutations were identified; four splice-site, three point mutations, and two single exon deletions. Four were novel mutations. Despite conventional treatment, median adult height was lower than median height on admission (-3.8 and -2.3 SDS, respectively), metabolic and radiographic recovery were not achieved, adherence was low (30%). Although mean adult height was better in compliant patients than noncompliants (-2.6 vs. -3.7 SDS, respectively), they were still short. Correlation between phenotype and genotype or gender could not be shown. Median phosphate decreased significantly throughout puberty (p=0.014). Median pubertal height was lower than prepubertal height (-4.4 vs. -3.6 SDS; respectively), pubertal growth spurt was not observed. Among five patients with a follow-up longer than five years, three had nephrocalcinosis (60%), two had hyperparathyroidism (40%), 4/6 (33%) required correction osteotomy.</p><p><strong>Conclusions: </strong>Conventional treatment appears to have limited effect on metabolic, clinical and radiographic recovery in XLHR. Metabolic control and growth worsened during puberty. Although, long-term adverse effects are yet to be seen, introduction of burosumab as first-line treatment may be an alternative after infancy.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1573-1584"},"PeriodicalIF":1.4,"publicationDate":"2021-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39419975","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
Reverse circadian glucocorticoid treatment in prepubertal children with congenital adrenal hyperplasia. 反昼夜糖皮质激素治疗先天性肾上腺增生的青春期前儿童。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2021-09-15 Print Date: 2021-12-20 DOI: 10.1515/jpem-2021-0540
Ilja Dubinski, Susanne Bechtold Dalla-Pozza, Martin Bidlingmaier, Nicole Reisch, Heinrich Schmidt
{"title":"Reverse circadian glucocorticoid treatment in prepubertal children with congenital adrenal hyperplasia.","authors":"Ilja Dubinski,&nbsp;Susanne Bechtold Dalla-Pozza,&nbsp;Martin Bidlingmaier,&nbsp;Nicole Reisch,&nbsp;Heinrich Schmidt","doi":"10.1515/jpem-2021-0540","DOIUrl":"https://doi.org/10.1515/jpem-2021-0540","url":null,"abstract":"<p><strong>Objectives: </strong>Children with salt-wasting congenital adrenal hyperplasia (CAH) have an impaired function of steroid synthesis pathways. They require therapy with glucocorticoid (GC) and mineralocorticoid hormones to avoid salt-wasting crisis and other complications. Most commonly, children receive hydrocortisone thrice daily with the highest dose in the morning, mimicking the regular physiology. However, reverse circadian treatment (RCT) had been suggested previously. In this study, we aimed to determine the efficacy of RCT in prepubertal children with CAH by comparing the salivary 17-hydroxyprogesterone (s17-OHP) levels individually.</p><p><strong>Methods: </strong>In this retrospective study, we analyzed the records of children with classical CAH and RCT who were monitored by s17-OHP levels. The study included 23 patients. We identified nine prepubertal children with RCT schemes (three boys and six girls) and compared the s17-OHP levels in the morning, afternoon, and evening. The objective of this study was to demonstrate the non-effectiveness of RCT in terms of lowering the morning s17-OHP concentration. In addition, we compared s17-OHP day profiles in six patients on RCT and non-RCT therapy (intraindividually).</p><p><strong>Results: </strong>Eight of nine children with RCT showed higher s17-OHP levels in the morning compared to the evening. In addition, none of the children showed a significant deviation of development. Three children were overweight. No adrenal crisis or pubertal development occurred. Comparison of RCT and non-RCT regimens showed no difference in 17-OHP profiles.</p><p><strong>Conclusions: </strong>Our data do not support the use of RCT schemes for GC replacement in children with CAH due to lack of benefits and unknown long-term risks.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1543-1548"},"PeriodicalIF":1.4,"publicationDate":"2021-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39436993","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
The utility of continuous glucose monitoring systems in the management of children with persistent hypoglycaemia. 持续血糖监测系统在治疗持续性低血糖儿童中的应用。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2021-09-15 Print Date: 2021-12-20 DOI: 10.1515/jpem-2021-0414
Sathyakala Vijayanand, Paul G Stevenson, Maree Grant, Catherine S Choong, Elizabeth A Davis, Mary B Abraham
{"title":"The utility of continuous glucose monitoring systems in the management of children with persistent hypoglycaemia.","authors":"Sathyakala Vijayanand,&nbsp;Paul G Stevenson,&nbsp;Maree Grant,&nbsp;Catherine S Choong,&nbsp;Elizabeth A Davis,&nbsp;Mary B Abraham","doi":"10.1515/jpem-2021-0414","DOIUrl":"https://doi.org/10.1515/jpem-2021-0414","url":null,"abstract":"<p><strong>Objectives: </strong>Glucose monitoring is vital in children with persistent hypoglycaemia to reduce the risk of adverse neuro-behavioural outcomes; especially in children with hyperinsulinism. The role of continuous glucose monitoring (CGM) systems in monitoring glucose levels in this cohort is limited. The objective of this study was to ascertain the effectiveness of CGM and to evaluate parents' experience of using CGM for monitoring glucose levels in children with hypoglycaemia.</p><p><strong>Methods: </strong>Retrospective analysis of sensor glucose (SG) values from Dexcom G4 CGM with paired finger-prick blood glucose (BG) values was performed to determine the accuracy of CGM. The parent experience of CGM was assessed using a questionnaire administered to families of children with congenital hyperinsulinism currently attending the clinic.</p><p><strong>Results: </strong>SG data from 40 children (median age 6 months) with persistent hypoglycaemia (60% Hyperinsulinism) were analysed. The mean difference between 5,650 paired BG and SG values was 0.28 mmol/L. The sensitivity and specificity of CGM to identify severe hypoglycaemia (BG < 3.0 mmol/L) were 54.3% (95% CI: 39.0%, 69.1%) and 97.4% (95% CI: 96.9%, 97.8%) respectively. Parents (n=11) reported less anxiety (n=9), better sleep at night (n=7) and preferred to use CGM for monitoring (n=9).</p><p><strong>Conclusions: </strong>Although the high number of false-positive readings precludes the routine use of CGM in the evaluation of hypoglycaemia, it avoids unnecessary BG testing during normoglycaemia. It is an acceptable tool for parents for monitoring their children who are at risk of hypoglycaemia. Newer CGM systems with improved accuracy at lower glucose levels have the potential to further improve monitoring.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1567-1572"},"PeriodicalIF":1.4,"publicationDate":"2021-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39415260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 5
COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1. 1例戊二酸尿1型患者新冠肺炎引发的脑病危象
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2021-09-14 Print Date: 2021-12-20 DOI: 10.1515/jpem-2021-0474
Tanyel Zubarioglu, Saffa Ahmadzada, Cengiz Yalcinkaya, Ertugrul Kiykim, Cigdem Aktuglu-Zeybek
{"title":"COVID-19 triggered encephalopathic crisis in a patient with glutaric aciduria type 1.","authors":"Tanyel Zubarioglu,&nbsp;Saffa Ahmadzada,&nbsp;Cengiz Yalcinkaya,&nbsp;Ertugrul Kiykim,&nbsp;Cigdem Aktuglu-Zeybek","doi":"10.1515/jpem-2021-0474","DOIUrl":"https://doi.org/10.1515/jpem-2021-0474","url":null,"abstract":"<p><strong>Objectives: </strong>The impact of coronavirus disease-19 (COVID-19) on metabolic outcome in patients with inborn errors of metabolism has rarely been discussed. Herein, we report a case with an acute encephalopathic crisis at the course of COVID-19 disease as the first sign of glutaric aciduria type 1 (GA-1).</p><p><strong>Case presentation: </strong>A 9-month-old patient was admitted with encephalopathy and acute loss of acquired motor skills during the course of COVID-19 disease. She had lethargy, hypotonia, and choreoathetoid movements. In terms of COVID-19 encephalopathy, the reverse transcription-polymerase chain reaction assay test for COVID-19 was negative in cerebral spinal fluid. Brain imaging showed frontotemporal atrophy, bilateral subcortical and periventricular white matter, basal ganglia, and thalamic involvement. Elevated glutarylcarnitine in plasma and urinary excretion of glutaric and 3-OH-glutaric acids was noted. A homozygote mutation in the glutaryl-CoA dehydrogenase gene led to the diagnosis of GA-1.</p><p><strong>Conclusions: </strong>With this report, neurological damage associated with COVID-19 has been reported in GA-1 patients for the first time in literature.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1611-1614"},"PeriodicalIF":1.4,"publicationDate":"2021-09-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39412945","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 3
Role of magnetic resonance diffusion weighted imaging in diagnosis of diabetic nephropathy in children living with type 1 diabetes mellitus. 磁共振弥散加权成像在1型糖尿病患儿糖尿病肾病诊断中的作用。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2021-09-09 Print Date: 2021-12-20 DOI: 10.1515/jpem-2021-0379
Eman Nabil Wahba, Ashraf Elsharkawy, Mohammad Hosny Awad, Ashraf Abdel Rahman, Amr Sarhan
{"title":"Role of magnetic resonance diffusion weighted imaging in diagnosis of diabetic nephropathy in children living with type 1 diabetes mellitus.","authors":"Eman Nabil Wahba,&nbsp;Ashraf Elsharkawy,&nbsp;Mohammad Hosny Awad,&nbsp;Ashraf Abdel Rahman,&nbsp;Amr Sarhan","doi":"10.1515/jpem-2021-0379","DOIUrl":"https://doi.org/10.1515/jpem-2021-0379","url":null,"abstract":"<p><strong>Objectives: </strong>Diabetic nephropathy is a serious and a common complication of diabetes that can lead to end stage renal disease among children living with type 1 diabetes, thus an early and accurate method of diagnosis that allows timely intervention is of high importance. This study aimed to evaluate the role of magnetic resonance diffusion weighted imaging in diagnosis of diabetic nephropathy in children with type 1 diabetes.</p><p><strong>Methods: </strong>This prospective, observational, case control study included 30 children with type 1 diabetes and 30 matched healthy controls attending the outpatient clinics in Mansoura University Children's Hospital. All were subjected to magnetic resonance DWI of the renal parenchyma and their glomerular filtration rate (GFR) was estimated, along with micro albumin in 24 h urine collection and HbA1c in patients with diabetes.</p><p><strong>Results: </strong>Children with diabetes who were positive for microalbuminuria had significantly lower apparent diffusion coefficient value compared to Children with diabetes who were negative for microalbuminuria (p = 0.034) as well as controls (p = 0.001). Among children with type 1 diabetes, apparent diffusion coefficient had significant positive correlation with estimated glomerular filtration rate (r = 0.491, p = 0.006) and negative correlation with microalbuminuria (r = -0.437, p = 0.016).</p><p><strong>Conclusion: </strong>Magnetic resonance DWI of the renal parenchyma is correlated with estimated glomerular filtration rate (eGFR) in children with type 1 diabetes and can detect GFR deterioration even in presence of normal albumin excretion.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1585-1591"},"PeriodicalIF":1.4,"publicationDate":"2021-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39413355","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 4
The concordance between ultrasonographic stage of breast and Tanner stage of breast for overweight and obese girls: a school population-based study. 超重和肥胖女孩超声分期与Tanner分期的一致性:一项基于学校人群的研究。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2021-09-08 Print Date: 2021-12-20 DOI: 10.1515/jpem-2021-0181
Dongxue Pan, Simao Fu, Xiaoqing Li, Tingting Yu, Sizhe Huang, Bihong Zhang, Xin Lai, Yifan Liu, Xiaodan Yu, Cuilan Lin, Shijian Liu
{"title":"The concordance between ultrasonographic stage of breast and Tanner stage of breast for overweight and obese girls: a school population-based study.","authors":"Dongxue Pan,&nbsp;Simao Fu,&nbsp;Xiaoqing Li,&nbsp;Tingting Yu,&nbsp;Sizhe Huang,&nbsp;Bihong Zhang,&nbsp;Xin Lai,&nbsp;Yifan Liu,&nbsp;Xiaodan Yu,&nbsp;Cuilan Lin,&nbsp;Shijian Liu","doi":"10.1515/jpem-2021-0181","DOIUrl":"https://doi.org/10.1515/jpem-2021-0181","url":null,"abstract":"<p><strong>Objectives: </strong>In this study, we evaluated the concordance between the ultrasonographic stage of breast (US B) and Tanner stage of breast (TS B) for overweight and obese girls based on a school population study.</p><p><strong>Methods: </strong>We conducted multistage, stratified cluster, and random-proportional sampling and ultimately included 221 girls (aged 6-10 years).</p><p><strong>Results: </strong>This study revealed that the concordance was poor (accuracy=0.19 (95% confidence interval: 0.14, 0.25)) between US B and TS B among the 221 participants. When our subjects were stratified by weight, we observed a weak association between US B and TS B in the thin/normal weight group (r=0.34, p=0.001) but not in the overweight (r=0.097, p=0.38) or obese groups (r=-0.19, p=0.206), and as the body mass index (BMI) z-score increased, the overestimation ratio of TS B increased. US B manifested a positive correlation with breast bud diameter (BD) (r=0.885, p<0.001), follicle-stimulating hormone (r=0.235, p=0.009), and luteinizing hormone (r=0.192, p=0.037), but this was not the case with TS B.</p><p><strong>Conclusions: </strong>As the BMI z-score increased, the correlation between the two methods declined, and the overestimation ratio of TS B increased. US B is an objective and quantitative method used to evaluate breast development, and whether BD might replace US B as a routine diagnostic method to evaluate breast development in clinical practice needs to be confirmed in larger-sample studies.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1549-1558"},"PeriodicalIF":1.4,"publicationDate":"2021-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39394837","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review. 维生素D依赖性佝偻病1A型的基因型和表型谱:我们的经验和系统综述。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2021-09-08 Print Date: 2021-12-20 DOI: 10.1515/jpem-2021-0403
Manjunath Havalappa Dodamani, Manjeetkaur Sehemby, Saba Samad Memon, Vijaya Sarathi, Anurag R Lila, Aaron Chapla, Vishwambhar Vishnu Bhandare, Virendra A Patil, Nalini S Shah, Nihal Thomas, Ambarish Kunwar, Tushar R Bandgar
{"title":"Genotype and phenotypic spectrum of vitamin D dependent rickets type 1A: our experience and systematic review.","authors":"Manjunath Havalappa Dodamani,&nbsp;Manjeetkaur Sehemby,&nbsp;Saba Samad Memon,&nbsp;Vijaya Sarathi,&nbsp;Anurag R Lila,&nbsp;Aaron Chapla,&nbsp;Vishwambhar Vishnu Bhandare,&nbsp;Virendra A Patil,&nbsp;Nalini S Shah,&nbsp;Nihal Thomas,&nbsp;Ambarish Kunwar,&nbsp;Tushar R Bandgar","doi":"10.1515/jpem-2021-0403","DOIUrl":"https://doi.org/10.1515/jpem-2021-0403","url":null,"abstract":"<p><strong>Background: </strong>Vitamin D dependent rickets type 1 (VDDR1) is a rare disease due to pathogenic variants in 1-<i>α</i> hydroxylase gene. We describe our experience with systematic review of world literature to describe phenotype and genotype.</p><p><strong>Methods: </strong>Seven patients from six unrelated families with genetically proven VDDR1 from our cohort and 165 probands from systematic review were analyzed retrospectively. The clinical features, biochemistry, genetics, management, and long-term outcome were retrieved.</p><p><strong>Results: </strong>In our cohort, the median age at presentation and diagnosis was 11(4-18) and 40(30-240) months. The delayed diagnoses were due to misdiagnoses as renal tubular acidosis and hypophosphatemic rickets. Four had hypocalcemic seizures in infancy whereas all had rickets by 2 years. All patients had biochemical response to calcitriol, however two patients diagnosed post-puberty had persistent deformity. Genetic analysis revealed two novel (p.Met260Arg, p.Arg453Leu) and a recurring variant (p.Phe443Profs*24). Systematic review showed that seizures as most common presentation in infancy, whereas delayed motor milestones and deformities after infancy. Diagnosis was delayed in 27 patients. Patients with unsatisfactory response despite compliance were >12 years at treatment initiation. Inappropriately normal 1,25(OH)2D may be present, however suppressed ratio of 1,25(OH)2 D/25(OH)D may provide a clue to diagnosis. Various region specific and hot-spot recurrent variants are described. Patients with truncating variants had higher daily calcitriol requirement and greatly suppressed ratio of 1,25(OH)2D/25(OH)D.</p><p><strong>Conclusion: </strong>Delayed diagnosis may lead to permanent short stature and deformities. Truncating variants tend to have severe disease as compared to non-truncating variants. Diagnostic accuracy of 1,25(OH)2 D/25(OH)D ratio needs further validation.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1505-1513"},"PeriodicalIF":1.4,"publicationDate":"2021-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39395258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 8
Predictive value of WHO vs. IAP BMI charts for identification of metabolic risk in Indian children and adolescents. WHO与IAP BMI图表对印度儿童和青少年代谢风险识别的预测价值。
IF 1.4
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2021-09-06 Print Date: 2021-12-20 DOI: 10.1515/jpem-2021-0411
Chirantap Oza, Vaman Khadilkar, Ketan Gondhalekar, Neha Kajale, Anuradha Khadilkar
{"title":"Predictive value of WHO vs. IAP BMI charts for identification of metabolic risk in Indian children and adolescents.","authors":"Chirantap Oza,&nbsp;Vaman Khadilkar,&nbsp;Ketan Gondhalekar,&nbsp;Neha Kajale,&nbsp;Anuradha Khadilkar","doi":"10.1515/jpem-2021-0411","DOIUrl":"https://doi.org/10.1515/jpem-2021-0411","url":null,"abstract":"<p><strong>Objectives: </strong>Owing to increase in prevalence of obesity and metabolic syndrome in Indian children and adolescents, this study is conducted to assess the predictive value of IAP 2015 and WHO 2007 BMI for age cut-offs in identifying metabolic risk in Indian children.</p><p><strong>Methods: </strong>Cross-sectional multicentric school-based study on 9-18-year-old healthy children (n=1,418) randomly selected from three states of India.</p><p><strong>Results: </strong>WHO 2007 and IAP 2015 charts classified 222 (15.7%) and 271 (19.1%) as overweight/obese, respectively. A total of 192 (13.5%) subjects had metabolic risk. Of these 47 (25%) and 36 (18.75%) were classified as having normal body mass index (BMI) by WHO and IAP, respectively. In identifying metabolic risk, IAP 2015 and WHO 2007 charts showed a sensitivity of 81.3 and 75%, negative predictive value 96.5% as against 94.8%, positive predictive value 57.5 and 64.8%, and specificity of 89.7 and 91.6%, respectively.</p><p><strong>Conclusions: </strong>Owing to obesity epidemic and high metabolic risk in Indians, IAP 2015 charts (as against the WHO 2007 references) which had a higher sensitivity in identifying metabolic risk may be more suitable in Indian children and adolescents.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"1605-1610"},"PeriodicalIF":1.4,"publicationDate":"2021-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39398464","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 2
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