{"title":"A guide to evade hallucinations and maintain reliability when using large language models for medical research: a narrative review.","authors":"Sangzin Ahn","doi":"10.6065/apem.2448278.139","DOIUrl":"10.6065/apem.2448278.139","url":null,"abstract":"<p><p>Large language models (LLMs) are increasingly prevalent in medical research; however, fundamental limitations in their architecture create inherent reliability challenges, particularly in specialized medical contexts. These limitations stem from autoregressive prediction mechanisms and computational constraints related to undecidability, hindering perfect accuracy. Current mitigation strategies include advanced prompting techniques such as Chain-of-Thought reasoning and Retrieval-Augmented Generation (RAG) frameworks, although these approaches are insufficient to eliminate the core reliability issues. Meta-analyses of human-artificial intelligence collaboration experiments revealed that, although LLMs can augment individual human capabilities, they are most effective in specific contexts allowing human verification. Successful integration of LLMs in medical research requires careful tool selection aligned with task requirements and appropriate verification mechanisms. Evolution of the field indicates a balanced approach combining technological innovation with established expertise, emphasizing human oversight particularly in complex biological systems. This review highlights the importance of understanding the technical limitations of LLMs while maximizing their potential through thoughtful application and rigorous verification processes, ensuring high standards of scientific integrity in medical research.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 3","pages":"115-118"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235426/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585209","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}
Si-Hwa Gwag, Kyu Hyun Park, Eungu Kang, Hyo-Kyoung Nam, Young-Jun Rhie, Kee-Hyoung Lee
{"title":"Predicting variables associated with diagnostic reevaluation of transient congenital hypothyroidism.","authors":"Si-Hwa Gwag, Kyu Hyun Park, Eungu Kang, Hyo-Kyoung Nam, Young-Jun Rhie, Kee-Hyoung Lee","doi":"10.6065/apem.2448164.082","DOIUrl":"10.6065/apem.2448164.082","url":null,"abstract":"<p><strong>Purpose: </strong>Current guidelines recommend immediate treatment after diagnosis of congenital hypothyroidism and reassessment of the hypothalamic-pituitary-thyroid axis at 3 years of age. As the known incidence of transient congenital hypothyroidism (TCH) has increased, experts have suggested the possibility of early drug discontinuation. Distinguishing TCH from permanent congenital hypothyroidism (PCH) is important to avoid prolonged treatment. We aimed to investigate the factors associated with TCH and to identify markers that indicate patients suitable for early treatment discontinuation.</p><p><strong>Methods: </strong>Participants were 167 children with congenital hypothyroidism. Subjects attempting to discontinue levothyroxine before 2 years of age were defined as the \"early-off group.\" Cox proportional hazards models were used to identify factors associated with TCH and to determine factors predicting early drug discontinuation.</p><p><strong>Results: </strong>Totals of 96 (57%) and 71 children (43%) were classified as having TCH and PCH, respectively. In the Cox multivariate analysis, gestational age (GA) and low levothyroxine dose at 24 months of age were statistically associated with TCH. Based on receiver operating characteristic (ROC) curve analysis, an optimal cutoff dose for levothyroxine of 3.03 µg/kg/day at 18 months of age can predict early treatment discontinuation (P<0.001; sensitivity, 75.0%; specificity, 72.9%; area under the curve, 0.778).</p><p><strong>Conclusion: </strong>Our study showed that lower GA and lower levothyroxine doses during treatment were highly suggestive of TCH. Those requiring lower levothyroxine levels at 18 months of age could be candidates to cease medication prior to 3 years of age.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 3","pages":"127-134"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235427/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585212","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Predictive factors of permanent versus transient congenital hypothyroidism: a pragmatic cohort study.","authors":"Niki Dermitzaki, Vasileios Giapros, Marianna Deligeorgopoulou, Vasiliki Rengina Tsinopoulou, Eleni Kotanidou, Maria Baltogianni, Foteini Balomenou, Anastasios Serbis","doi":"10.6065/apem.2448126.063","DOIUrl":"10.6065/apem.2448126.063","url":null,"abstract":"<p><strong>Purpose: </strong>To identify clinical predictors of permanent congenital hypothyroidism (PCH) and transient congenital hypothyroidism (TCH).</p><p><strong>Methods: </strong>This retrospective cohort study enrolled neonates with risk factors for congenital hypothyroidism as diagnosed by neonatal screening test or blood testing. Levothyroxine (LT4) dose and serum thyroid stimulating hormone (TSH) concentrations were recorded from birth to 3 years of age.</p><p><strong>Results: </strong>We enrolled 88 neonates, 35 with PCH and 53 with TCH. An LT4 dose > 3.8 μg/kg/day at 6 months (sensitivity 62%, specificity 96%), 3.0 μg/kg/day at 12 months (64%, 97%, respectively), 2.6 μg/kg/day at 2 years (80%, 98%), and 2.5 μg/kg/day at 3 years (89%, 98%) of age could predict PCH. Daily total LT4 doses > 50 µg at any time during the follow-up period were found solely in the PCH group (28% vs 0%, P<0.001). Independent discriminative predictors of PCH and TCH were TSH concentrations at diagnosis (beta=-4.3, P<0.001); daily LT4 dose at 6 (beta=-2.9, P=0.004), 12 (beta=-3.4, P=0.001), and 24 months of age (beta=-3.2, P=0.001); TSH > 5 μIU/mL at any time after treatment initiation (beta=-3.6, P<0.001); and increase in LT4 dose by more than twice (beta=-3.2, P<0.001).</p><p><strong>Conclusion: </strong>Discrimination between PCH and TCH was achieved based on serum TSH concentrations at diagnosis, TSH > 5 μIU/mL during treatment, LT4 dose, LT4 > 50 µg during treatment, and increasing LT4 dose during treatment.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":" ","pages":"149-156"},"PeriodicalIF":3.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235431/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143665056","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}
Dohyung Kim, Ji-Hee Yoon, Soojin Hwang, Ja Hye Kim, Han-Wook Yoo, Jin-Ho Choi
{"title":"Comparison of the effectiveness of recombinant human growth hormone therapy in preterm and full-term children with short stature born small for gestational age.","authors":"Dohyung Kim, Ji-Hee Yoon, Soojin Hwang, Ja Hye Kim, Han-Wook Yoo, Jin-Ho Choi","doi":"10.6065/apem.2448128.064","DOIUrl":"10.6065/apem.2448128.064","url":null,"abstract":"<p><strong>Purpose: </strong>With improvements in the infant survival rates for high-risk pregnancies, the prevalence of short stature in children born prematurely and small for gestational age (SGA) has also increased. The aim of this study was to compare the effectiveness of recombinant human growth hormone (rhGH) therapy for preterm and full-term SGA children with short stature.</p><p><strong>Methods: </strong>This study included 114 children born SGA (40 preterm and 74 term), who showed no catch-up growth by age 4 years and had undergone rhGH therapy for at least one year. The clinical parameters were reviewed retrospectively.</p><p><strong>Results: </strong>The mean height standard deviation scores (SDSs) for preterm and full-term SGA children at the start of rhGH therapy were -2.97±0.85 and -2.46±0.54, respectively. The mean duration of treatment was 3.3±1.9 years for preterm SGA children and 3.3±1.6 years for full-term SGA children. The height SDS increased to -1.13±0.96 in preterm children and -0.77±0.59 in full-term children by the fourth year of treatment. Full-term SGA children responded better to rhGH therapy than preterm children in the first year of therapy (P=0.03). Serum insulin-like growth factor 1 and insulin-like growth factor binding protein 3 levels significantly increased after the start of rhGH therapy (P<0.001).</p><p><strong>Conclusion: </strong>rhGH therapy significantly improved height SDS in both preterm and full-term SGA children, emphasizing the key role of this intervention for managing short stature in children born SGA, regardless of gestational age.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 3","pages":"140-148"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235430/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Effect of β-casein A2 cow milk supplementation on physical growth, inflammation, growth-related hormones, and nutritional biomarkers in stunted children.","authors":"Revi Gama Hatta Novika, Atriany Nilam Sari, Siti Nurhidayati, Rufidah Maulina, Luluk Fajria Maulida, Nurul Jannatul Wahidah, Muhana Fawwazy Ilyas, Lanjar Sumarno, Sigit Prastowo, Cecilia M Jevitt","doi":"10.6065/apem.2448158.079","DOIUrl":"10.6065/apem.2448158.079","url":null,"abstract":"<p><strong>Purpose: </strong>Previous studies have suggested that milk consumption can promote growth in children. However, limited studies have been performed on the effects of cow milk varieties, especially β-casein A2 milk. This study aims to investigate the effect of β-casein A2 cow milk supplementation on physical growth, inflammation, and growth-related hormone and nutritional biomarker profiles in growth-stunted children.</p><p><strong>Methods: </strong>This is a quasi-experimental study with only one group and a pre-and posttest design. This research is divided into 3 stages: allele testing in the β-casein gene, processing into ready-to-drink milk, and a clinical trial. The participants were children aged 12-36 months who were given 200-mL β-casein A2 cow milk supplementation once a day for 3 months. The outcome assessments were physical growth (body weight and height), inflammation (tumor necrosis factor-alpha [TNF-α] and cortisol levels), and biological markers related to growth and nutrition (insulin-like growth factor-1 [IGF-1], growth hormone [GH], and transferrin) that were measured during pre-, mid (week 6)-, and post (week 12)-intervention periods.</p><p><strong>Results: </strong>This study included 30 study participants. Significant body weight and height improvements were observed at week 6 and postintervention (week 12) compared to preintervention. There were significant reductions in the inflammation markers TNF-α and cortisol levels postintervention. Additionally, IGF-1 and GH levels increased significantly, and transferrin levels also rose, potentially reflecting improved nutritional status.</p><p><strong>Conclusion: </strong>This study suggests that β-casein A2 milk supplementation was associated with improvements in physical growth and related biomarkers in stunted children. Additionally, β-casein A2 milk may produce fewer BCM-7 metabolites compared to β-casein A1 milk, which has been hypothesized to be associated with certain adverse health outcomes. However, further controlled studies are needed to confirm its efficacy as a dietary intervention.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":" ","pages":"119-126"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235434/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143504731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Reconsidering the timing of levothyroxine discontinuation in children with congenital hypothyroidism: insights from a Korean Cohort Study - commentary on \"Predicting variables associated with diagnostic reevaluation of transient congenital hypothyroidism\".","authors":"Hwal Rim Jeong","doi":"10.6065/apem.2524082edi03","DOIUrl":"10.6065/apem.2524082edi03","url":null,"abstract":"","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 3","pages":"113-114"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235433/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585213","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}
Abirami Namasivayam, Sandra Walton-Betancourth, Helen Hysted, Vipan Datta, Cliodhna Myles, Charlotte Boughton, M Loredana Marcovecchio, Ajay Thankamony
{"title":"Successful use of a fully closed-loop insulin delivery system in an adolescent with diabetes secondary to pancreatitis - a case report.","authors":"Abirami Namasivayam, Sandra Walton-Betancourth, Helen Hysted, Vipan Datta, Cliodhna Myles, Charlotte Boughton, M Loredana Marcovecchio, Ajay Thankamony","doi":"10.6065/apem.2448150.075","DOIUrl":"10.6065/apem.2448150.075","url":null,"abstract":"<p><p>Variable rate intravenous insulin infusion (VRIII) is often administered to hospitalized patients with diabetes, who are unwell and have complex nutritional needs. However, VRIII is a reactive approach to insulin delivery that is not based on physiology, is associated with significant safety concerns, and is extremely resource intensive. Fully closed-loop (FCL) systems are promising technologies in diabetes management. CamAPS HX is one of these systems that improves glycemic outcomes in adults, but evidence of its effectiveness and safety in children is lacking. In this report, we present a case of a 14-year-old adolescent who developed diabetes secondary to acute necrotizing pancreatitis and was associated with complications that included esophageal perforation and peripancreatic collections. He was initially treated with VRII to manage total parenteral nutrition (TPN) before transitioning to nasogastric tube feeding. However, variable tolerance to nasogastric feeds and frequent titration of TPN posed significant challenges to insulin therapy. Therefore, the CamAPS HX FCL system was initiated which allowed maintenance of stable glucose levels without hypoglycemia during the gradual transition from TPN to enteral nutrition. This case provides evidence that use of FCL systems is safe and effective for management of inpatient children and adolescents with diabetes and complex nutritional needs. To our knowledge, this is the first reported case of a pediatric inpatient in whom diabetes was managed using an FCL system.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 3","pages":"157-162"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235432/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585214","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Assessing the ovarian reserve in girls who survived childhood leukemia using anti-Mullerian hormone.","authors":"Lalita Jingrukwong, Khomsak Srilanchakon, Supanun Lauhasurayotin, Kanhatai Chiengthong","doi":"10.6065/apem.2448146.073","DOIUrl":"10.6065/apem.2448146.073","url":null,"abstract":"<p><strong>Purpose: </strong>Acute leukemia is the most common form of malignancy in children; however, there is an absence of data regarding the long-term ovarian reserve of female survivors. The purpose of this investigation was to examine potential discrepancies in anti-Mullerian hormone (AMH) levels among female survivors of pediatric acute leukemia.</p><p><strong>Methods: </strong>A cross-sectional study was conducted on female survivors aged 2 to 18 years who completed gonadotoxic chemotherapy sessions at least 1 year prior to evaluation. Based on Tanner staging, the participants were divided into pre-pubertal and pubertal groups. Serum AMH, follicle stimulating hormone (FSH), luteinizing hormone (LH), and estradiol were assessed.</p><p><strong>Results: </strong>Three of 36 participants demonstrated low AMH levels in comparison to the adjusted age-reference range, whereas all participants had normal FSH and LH levels. However, the correlation between cumulative dose of cyclophosphamide and AMH level was not statistically significant.</p><p><strong>Conclusion: </strong>Measurement of AMH level may not be beneficial in individuals who have received a cumulative dose of cyclophosphamide less than 5,400 mg/m2.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":"30 3","pages":"135-139"},"PeriodicalIF":2.8,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12235429/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144585210","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}
Ngoc Can Thi Bich, Son Do Tien, Khanh Nguyen Ngoc, Dien Tran Minh, Bach Le Xuan, Xuan Bui Thi, Huong Bui Thi, Linh Tran Thi Thuy, Hoa Do Thi, Huong Nguyen Thi Thu, Thao Bui Phuong, Dung Vu Chi
{"title":"Incidence rate and characteristics of newly diagnosed type 1 diabetes in Vietnam tertiary pediatric center: challenges in early detection.","authors":"Ngoc Can Thi Bich, Son Do Tien, Khanh Nguyen Ngoc, Dien Tran Minh, Bach Le Xuan, Xuan Bui Thi, Huong Bui Thi, Linh Tran Thi Thuy, Hoa Do Thi, Huong Nguyen Thi Thu, Thao Bui Phuong, Dung Vu Chi","doi":"10.6065/apem.2448282.141","DOIUrl":"https://doi.org/10.6065/apem.2448282.141","url":null,"abstract":"<p><strong>Purpose: </strong>This study aims to estimate the incidence and examine the clinical and laboratory characteristics of newly diagnosed Type 1 Diabetes (T1D) in Vietnamese children at a tertiary referral pediatric hospital.</p><p><strong>Methods: </strong>A retrospective cross-sectional analysis was conducted on 64 children newly diagnosed with T1D at the Vietnam National Children Hospital in 2023. Data on the children were analysed, including demographics, family history, symptoms, anthropometric measurements, HbA1c levels, and pancreatic islet autoantibodies.</p><p><strong>Results: </strong>The average age at diagnosis was 9.1±3.7 years, with a male predominance (53.1%). The incidence Rate of T1D was 0.77 per 100,000 children in Northern Vietnam. Diabetic ketoacidosis (DKA) was present in 57.8% of children at diagnosis, and 75% tested positive for autoantibodies. The Red River Delta reported the highest children with T1D proportion (43.5%), but the incident rate was highest in Hanoi capital (0.91 per 100,000 children).</p><p><strong>Conclusions: </strong>This study underscores the considerable diagnostic delays in type 1 diabetes (T1D) in a tertiary pediatric centre in Vietnam, with a high prevalence of diabetic ketoacidosis. The results highlight the urgent need for an enhanced network of satellite hospitals to enable early diagnosis and treatment for patients.</p>","PeriodicalId":44915,"journal":{"name":"Annals of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":2.8,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144057380","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}
Khanh Ngoc Nguyen, Giang Thi Kim Dang, Ngoc Thi Bich Can, Dien Minh Tran, Thao Phuong Bui, Mai Thi Phuong Nguyen, 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 Thi Phuong Nguyen, Huong Thu Pham, Ngoc Diem Ngo, Dung Chi Vu","doi":"10.6065/apem.2448292.146","DOIUrl":"https://doi.org/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's Hospital. Forty-three children underwent CYP21A2 mutation analysis using multiplex ligation-dependent probe amplification technique and complete gene sequencing to detect pathogenic variants.</p><p><strong>Results: </strong>Median age at diagnosis was 4.5 years (IQR: 1 day – 22.3 years). There were 38.0% males and 62.0% females. Common symptom was penile enlargement in males (53.3%) and clitoromegaly (87.8%) in females; their height standard deviation (SD) at diagnosis was 1.90 ± 1.79 SD (-2.02 to +5.43) according to WHO; 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. Genetic analysis should be prioritized early, 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":""},"PeriodicalIF":2.8,"publicationDate":"2025-05-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144019528","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}