Annals of Pediatric Endocrinology & Metabolism最新文献

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Secondary hyperaldosteronism associated with severe infantile atopic dermatitis: a case series. 继发性高醛固酮增多症与严重婴儿特应性皮炎相关:一个病例系列。
IF 3.3
Annals of Pediatric Endocrinology & Metabolism Pub Date : 2025-12-27 DOI: 10.6065/apem.2550320.160
Aimée M M C Jacquemot, David R Taylor, Nabil Melhem, Emily Derrick, Ritika R Kapoor
{"title":"Secondary hyperaldosteronism associated with severe infantile atopic dermatitis: a case series.","authors":"Aimée M M C Jacquemot, David R Taylor, Nabil Melhem, Emily Derrick, Ritika R Kapoor","doi":"10.6065/apem.2550320.160","DOIUrl":"https://doi.org/10.6065/apem.2550320.160","url":null,"abstract":"<p><p>Recent literature has highlighted an association between severe atopic dermatitis in infancy and biochemical disturbances consistent with secondary hyperaldosteronism. Trans-epidermal sodium loss driving volume depletion has been hypothesised to contribute to this process, but direct evidence of the underlying mechanisms remains sparse. We present a case series of three children, aged three to seven months, who were admitted with severe exudative eczema associated with hyponatraemia and hyperkalaemia, despite evidence of effective RAAS activation and renal mineralocorticoid action. In each case, these biochemical and hormonal disturbances resolved after optimising dermatological and nutritional management of their atopic presentations, supporting the role of extra-renal mechanisms of electrolyte disturbance. Our case series highlights the importance of considering biochemical and hormonal factors in comprehensive, early treatment of infantile atopic dermatitis to prevent complications associated with electrolyte imbalances and nutritional deficiencies.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":3.3,"publicationDate":"2025-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145850638","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
Bone health in children and adolescents with type 1 and type 2 diabetes. 1型和2型糖尿病儿童和青少年的骨骼健康
IF 3.3
Annals of Pediatric Endocrinology & Metabolism Pub Date : 2025-12-01 Epub Date: 2025-12-31 DOI: 10.6065/apem.2550100.050
Yong Jun Choi
{"title":"Bone health in children and adolescents with type 1 and type 2 diabetes.","authors":"Yong Jun Choi","doi":"10.6065/apem.2550100.050","DOIUrl":"10.6065/apem.2550100.050","url":null,"abstract":"<p><p>The increasing prevalence of both type 1 diabetes (T1D) and type 2 diabetes (T2D) among children and adolescents presents major challenges for long-term skeletal health. This review explores the effect of diabetes on bone health during critical phases of skeletal development. In T1D, insulin deficiency disrupts the insulin/insulin-like growth factor-1 axis, which is essential for osteoblast function, leading to decreased bone mineral density (BMD), lower bone formation markers, and altered microarchitecture. Conversely, T2D shows a paradoxical trend of normal or elevated BMD despite higher fracture risk, which is attributed to compromised bone quality from advanced glycation end-product accumulation and altered microarchitecture. Both types of diabetes share common pathophysiological mechanisms, including hyperglycemia, vitamin D deficiency, and oxidative stress, while also exhibiting distinct characteristics. Modern assessment techniques that go beyond conventional densitometry, such as trabecular bone score and high-resolution peripheral quantitative computed tomography, provide valuable insights into diabetes-specific bone abnormalities. Effective management strategies highlight the importance of strict glycemic control, adequate calcium and vitamin D supplementation, weight-bearing physical activities, and, when necessary, pharmacological interventions. Early identification and intervention are critical, as diabetes-related bone impairments during childhood can compromise peak bone mass development, potentially increasing the risk of lifelong fractures. As the prevalence of diabetes continues to rise globally, addressing bone health has become increasingly important for preventing future complications and ensuring good quality of life into adulthood.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 6","pages":"287-295"},"PeriodicalIF":3.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12784087/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145935406","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}
引用次数: 0
Commentary on "The effects of self-compassion in adolescents and young adults with type 1 diabetes: a pilot randomized controlled trial". 自我同情对青少年和年轻1型糖尿病患者的影响:一项随机对照试验。
IF 3.3
Annals of Pediatric Endocrinology & Metabolism Pub Date : 2025-12-01 Epub Date: 2025-12-31 DOI: 10.6065/apem.2550430.215
Moeeza Fatima, Husnain Ahmad, Isha Munir
{"title":"Commentary on &quot;The effects of self-compassion in adolescents and young adults with type 1 diabetes: a pilot randomized controlled trial&quot.","authors":"Moeeza Fatima, Husnain Ahmad, Isha Munir","doi":"10.6065/apem.2550430.215","DOIUrl":"10.6065/apem.2550430.215","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 6","pages":"343-344"},"PeriodicalIF":3.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12784088/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145935451","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}
引用次数: 0
HNF1B-related diabetes mellitus in a Korean patient with Kabuki syndrome: a case report and literature review. 韩国歌舞伎综合征患者hnf1b相关糖尿病1例报告及文献复习
IF 3.3
Annals of Pediatric Endocrinology & Metabolism Pub Date : 2025-12-01 Epub Date: 2025-12-31 DOI: 10.6065/apem.2550074.037
Sangeun Lee, Naeun Kwak, Jung-Eun Moon
{"title":"HNF1B-related diabetes mellitus in a Korean patient with Kabuki syndrome: a case report and literature review.","authors":"Sangeun Lee, Naeun Kwak, Jung-Eun Moon","doi":"10.6065/apem.2550074.037","DOIUrl":"10.6065/apem.2550074.037","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 6","pages":"340-342"},"PeriodicalIF":3.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12784086/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145935476","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}
引用次数: 0
The effect of education in obese type 2 diabetes adolescents and young adults based on continuous glucose monitoring and smartwatch-derived lifelog data. 基于连续血糖监测和智能手表衍生的生活日志数据,教育对肥胖2型糖尿病青少年和年轻人的影响
IF 3.3
Annals of Pediatric Endocrinology & Metabolism Pub Date : 2025-12-01 Epub Date: 2025-12-31 DOI: 10.6065/apem.2550026.013
Hyun Ah Woo, Ja Hyang Cho, Kye Shik Shim, Do Hyun Kim, Hae Woon Jung, Mi Young Han
{"title":"The effect of education in obese type 2 diabetes adolescents and young adults based on continuous glucose monitoring and smartwatch-derived lifelog data.","authors":"Hyun Ah Woo, Ja Hyang Cho, Kye Shik Shim, Do Hyun Kim, Hae Woon Jung, Mi Young Han","doi":"10.6065/apem.2550026.013","DOIUrl":"10.6065/apem.2550026.013","url":null,"abstract":"<p><strong>Purpose: </strong>The increasing prevalence of type 2 diabetes (T2D) among adolescents and young adults (AYAs) is a major public health concern worldwide. This pilot study evaluated the effectiveness of lifestyle education in managing T2D in obese AYAs using continuous glucose monitoring (CGM) and smartwatch-derived lifelog data.</p><p><strong>Methods: </strong>Seven obese AYAs and T2D aged 12-19 years were enrolled in this prospective interventional study. Patients continued to take their previously prescribed T2D medication. CGM data were collected for 10 days, followed by lifestyle education using CGM and smartwatch data. Outcomes, including anthropometrics, glycemic control, dietary intake, physical activity, and self-management skills, were reassessed after an additional 10 days.</p><p><strong>Results: </strong>The median time in range increased from 58.1% (53.2%-75%) to 72% (64%-88%) (p=0.043) and time above range (&gt;250 mg/dL) decreased from 10% (2.9%-18.6%) to 3.0% (1.0%-11.0%) (p=0.028). Median peak total caloric intake decreased from 2,854 (2,465-3,040) kcal/day to 2,091 (1,751-2,283) kcal/day and walking calorie expenditure increased from 163.9 (116.7-321.3) kcal/day to 180.2 (165.3-492.4) kcal/day (p=0.018 for both). The Summary of Diabetes Self-Care Activities score improved from 0.29 (0.05-0.43) to 0.33 (0.32-0.68) (p=0.043).</p><p><strong>Conclusion: </strong>This integrated approach combining CGM and smartwatch-based education exhibited short-term effects on glycemic control, dietary habits, physical activity, and self-management skills in obese AYAs and T2D. Further studies are needed to confirm the long-term effectiveness of this strategy in this challenging population.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 6","pages":"305-312"},"PeriodicalIF":3.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12784093/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145935552","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}
引用次数: 0
Trend in the prevalence of metabolic phenotypes of obesity in Iranian children and adolescents: the CASPIAN (Childhood and Adolescence Surveillance and Prevention of Adult Non-communicable Disease) studies. 伊朗儿童和青少年肥胖代谢表型流行趋势:儿童和青少年监测和成人非传染性疾病预防研究
IF 3.3
Annals of Pediatric Endocrinology & Metabolism Pub Date : 2025-12-01 Epub Date: 2025-12-31 DOI: 10.6065/apem.2550042.021
Sadegh Mazaheri-Tehrani, Motahar Heidari-Beni, Mostafa Qorbani, Maryam Yazdi, Roya Kelishadi
{"title":"Trend in the prevalence of metabolic phenotypes of obesity in Iranian children and adolescents: the CASPIAN (Childhood and Adolescence Surveillance and Prevention of Adult Non-communicable Disease) studies.","authors":"Sadegh Mazaheri-Tehrani, Motahar Heidari-Beni, Mostafa Qorbani, Maryam Yazdi, Roya Kelishadi","doi":"10.6065/apem.2550042.021","DOIUrl":"10.6065/apem.2550042.021","url":null,"abstract":"<p><strong>Purpose: </strong>Cardiometabolic risk factors can originate in childhood, especially in overweight individuals. In this study, we aimed to determine the trends in the prevalence of metabolic phenotypes among Iranian children and adolescents.</p><p><strong>Methods: </strong>We determined the trends of the data from 3 nationwide school-based studies in Iran from 2003 to 2016 (the CASPIAN [Childhood and Adolescence Surveillance and Prevention of Adult Non-communicable Disease] studies). A total of 8,711 individuals (49.6% boys) aged 10-18 years were studied. Obesity and normal weight were considered as an age- and sex-specific body mass index &gt; 95th percentile and between the 5th to 85th percentile, respectively. Metabolic syndrome (MetS) was defined according to the modified Adult Treatment Panel III criteria for children and adolescents. Children were categorized into 4 groups: metabolically healthy obesity (MHO), metabolically unhealthy obesity (MUO), metabolically healthy normal weight, and metabolically unhealthy normal weight (MUNW).</p><p><strong>Results: </strong>Over 13 years, the prevalence of obesity increased significantly from 9.8% to 11.6% (p&lt;0.001), whereas that of MetS did not change significantly (from 5.35% in 2003-2004 to 7.76% in 2009-2010 and 4.45% in 2015-2016, p=0.83). The prevalence of MHO increased significantly from 7.1% in 2004 to 9.6% in 2016 (p=0.005). However, the change in prevalence was not significant for MUO and MUNW.</p><p><strong>Conclusion: </strong>From 2003 to 2016, the prevalence of MetS and metabolic phenotypes except MHO did not change significantly among Iranian children. The marginal increase in MHO prevalence should be considered, as shifts from this phenotype to unhealthy phenotypes may influence the risk of developing noncommunicable diseases in adulthood.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 6","pages":"296-304"},"PeriodicalIF":3.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12784092/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145935530","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}
引用次数: 0
Reply to commentary on "The effects of self-compassion in adolescents and young adults with type 1 diabetes: a pilot randomized controlled trial". 回复关于“自我同情对青少年和年轻1型糖尿病患者的影响:一项随机对照试验”的评论。
IF 3.3
Annals of Pediatric Endocrinology & Metabolism Pub Date : 2025-12-01 Epub Date: 2025-12-31 DOI: 10.6065/apem.2550428.214
Ratanaporn Jerawatana, Sirimon Reutrakul
{"title":"Reply to commentary on &quot;The effects of self-compassion in adolescents and young adults with type 1 diabetes: a pilot randomized controlled trial&quot.","authors":"Ratanaporn Jerawatana, Sirimon Reutrakul","doi":"10.6065/apem.2550428.214","DOIUrl":"10.6065/apem.2550428.214","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 6","pages":"345-346"},"PeriodicalIF":3.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12784090/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145935532","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}
引用次数: 0
Trunk-to-limb fat ratio and its relationship with cardiometabolic risk factors in Korean children and adolescents. 韩国儿童和青少年躯干与四肢脂肪比及其与心脏代谢危险因素的关系
IF 3.3
Annals of Pediatric Endocrinology & Metabolism Pub Date : 2025-12-01 Epub Date: 2025-12-31 DOI: 10.6065/apem.2550020.010
Jong Han Kim, Jun Hong Park, Hae Sang Lee, Young Suk Shim
{"title":"Trunk-to-limb fat ratio and its relationship with cardiometabolic risk factors in Korean children and adolescents.","authors":"Jong Han Kim, Jun Hong Park, Hae Sang Lee, Young Suk Shim","doi":"10.6065/apem.2550020.010","DOIUrl":"10.6065/apem.2550020.010","url":null,"abstract":"<p><strong>Purpose: </strong>Childhood obesity is a growing global health concern associated with various cardiometabolic risk factors. The aim of this study was to examine the relationships between the trunk-to-limb fat ratio on dual-energy x-ray absorptiometry (DXA) and cardiometabolic risk factors in Korean children and adolescents.</p><p><strong>Methods: </strong>Data for 891 boys and 770 girls aged 10-18 years from the 2009-2011 Korean National Health and Nutrition Examination Survey were analyzed. The trunk-to-limb fat ratio was calculated using DXA measurements. Cardiometabolic risk factors including waist circumference, blood pressure, lipid profiles, and fasting glucose were assessed. The Lambda-Mu-Sigma method was used to evaluate the distribution of the trunk-to-limb fat ratio by sex and age. Correlations between the trunk-to-limb fat ratio and metabolic syndrome risk factors were analyzed using adjusted mean values and odds ratios (ORs).</p><p><strong>Results: </strong>Trunk-to-limb fat ratio was significantly correlated with various cardiometabolic risk factors, including waist circumference, body mass index, and lipid profiles. The group with the highest trunk-to-limb fat ratio (≥95th percentile) demonstrated significantly increased odds of metabolic syndrome, particularly in girls (adjusted OR, 8.66). Sex-specific patterns in trunk-to-limb fat ratio with age were observed, with boys showing an increasing trend and girls maintaining a relatively stable ratio.</p><p><strong>Conclusion: </strong>Trunk-to-limb fat ratio on DXA is significantly associated with cardiometabolic risk factors and metabolic syndrome in Korean children and adolescents. This measure provides valuable information beyond traditional anthropometric measurements and may be particularly useful in assessing metabolic health in young populations.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 6","pages":"320-329"},"PeriodicalIF":3.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12784089/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145935502","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}
引用次数: 0
Incidence of central precocious puberty and the role of body mass index in Korea. 韩国中枢性性早熟发病率与体质指数的关系
IF 3.3
Annals of Pediatric Endocrinology & Metabolism Pub Date : 2025-12-01 Epub Date: 2025-12-31 DOI: 10.6065/apem.2550024.012
In-Hyuk Chung
{"title":"Incidence of central precocious puberty and the role of body mass index in Korea.","authors":"In-Hyuk Chung","doi":"10.6065/apem.2550024.012","DOIUrl":"10.6065/apem.2550024.012","url":null,"abstract":"<p><strong>Purpose: </strong>This study aimed to evaluate national trends in central precocious puberty (CPP) incidence in Korean children and to examine the association between early childhood obesity and CPP using linked population-based datasets.</p><p><strong>Methods: </strong>Data were obtained from the National Health Insurance Service (NHIS, 2012-2020) and the Infant/Toddler Health Check-up Program (2013-2016). CPP was defined operationally as having an International Classification of Diseases, 10th Revision code for precocious puberty, NHIS registration for CPP, and at least one year of gonadotropin-releasing hormone agonist treatment initiated before age 8 in girls and 9 in boys. Children with at least 3 health screenings before 6 years of age were included for body mass index (BMI) analysis. Multivariable logistic regression was used to estimate odds ratios (ORs) for CPP across BMI categories.</p><p><strong>Results: </strong>A total of 195,892 CPP cases were identified. The incidence of CPP increased steadily from 2012 to 2020 in both sexes. In BMI analysis (n=35,766), CPP risk was significantly higher in the overweight (85th-94th percentile) and obese (≥95th percentile) groups compared to the normal-weight group (5th-84th percentile). The association was strongest in obese boys (OR, 2.573; 95% confidence interval, 2.417-2.739). Underweight status (&lt;5th percentile) was associated with reduced CPP risk.</p><p><strong>Conclusion: </strong>CPP incidence in Korea has increased in recent years. Early childhood obesity is a strong, independent risk factor for CPP, particularly in boys. Early weight management strategies may help reduce CPP risk.a.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 6","pages":"313-319"},"PeriodicalIF":3.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12784085/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145935473","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}
引用次数: 0
Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam. 21-羟化酶缺乏症所致单纯阳刚型先天性肾上腺增生的临床和分子特征:来自越南某三级儿科中心的见解。
IF 3.3
Annals of Pediatric Endocrinology & Metabolism Pub Date : 2025-12-01 Epub Date: 2025-05-07 DOI: 10.6065/apem.2448292.146
Khanh Ngoc Nguyen, Giang Thi Kim Dang, Ngoc Thi Bich Can, Dien Minh Tran, Thao Phuong Bui, Mai Nguyen Thi Phuong, Huong Thu Pham, Ngoc Diem Ngo, Dung Chi Vu
{"title":"Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam.","authors":"Khanh Ngoc Nguyen, Giang Thi Kim Dang, Ngoc Thi Bich Can, Dien Minh Tran, Thao Phuong Bui, Mai Nguyen Thi Phuong, Huong Thu Pham, Ngoc Diem Ngo, Dung Chi Vu","doi":"10.6065/apem.2448292.146","DOIUrl":"10.6065/apem.2448292.146","url":null,"abstract":"<p><strong>Purpose: </strong>Simple virilizing congenital adrenal hyperplasia (SV-CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disease caused by pathogenic variants of the CYP21A2 gene. Children with SV-CAH often experience delayed diagnosis, presenting with pseudo-precocious puberty in males and genital virilization in females. Genotyping is essential for diagnosis, treatment, optimization, and phenotype prediction. This study describes the clinical and genetic characteristics of SV-CAH to guide treatment strategies.</p><p><strong>Methods: </strong>From November 2016 to March 2023, 79 children (accounting for 34.3% of 230 CAH cases in the overall children's cohort) from 75 families were classified as SV-CAH due to 21-OHD at the Vietnam National Children&apos;s Hospital. Forty-three children underwent CYP21A2 mutation analysis using multiplex ligation-dependent probe amplification and complete gene sequencing to detect pathogenic variants.</p><p><strong>Results: </strong>Median age at diagnosis was 4.5 years (interquartile range, 1 day-22.3 years). There were 38.0% males and 62.0% females. The most common symptoms were penile enlargement in males (53.3%) and clitoromegaly (87.8%) in females; the height standard deviation (SD) at diagnosis was 1.90±1.79 SD (-2.02 to 5.43) according to the World Health Organization; and bone age advancement was 4.65±2.59 years. Genetic analysis identified 21 pathogenic variants and 22 genotypes in 43 children. The most common variant was p.I173N (47.7%); the most common genotype was p.I173N/p.I173N (16.3%).</p><p><strong>Conclusion: </strong>Children with SV-CAH are often diagnosed late. To avoid that, early genetic analysis should be prioritized, especially for children diagnosed through newborn screening programs. Determining the genotype is crucial for optimizing treatment strategies, ensuring personalized management, and avoiding overtreatment.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":" ","pages":"330-339"},"PeriodicalIF":3.3,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12784094/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144019528","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}
引用次数: 0
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