Purpose: Psychiatric conditions are common in children and adolescents with diabetes and can hinder disease management. In this study, we examined whether mental health status at diagnosis predicts glycemic control at 1 year. Methods: We included 57 patients aged 6–18 years diagnosed with type 1 or type 2 diabetes between 2019 and 2023 at Seoul National University Bundang Hospital. Mental health was assessed within 3 months of diagnosis using the Eating Disorder Inventory-2, Children’s Depression Inventory, and Child Behavior Checklist (CBCL) for ages 6–18. Poor glycemic control was defined as glycated hemoglobin >6.5% at 1 year. Associations between screening results and glycemic control were analyzed using Fisher exact test and multivariate logistic regression. Results: Of the 57 patients, 32 (56.1%) had type 1 diabetes, and the mean age at diagnosis was 12.9±3.1 years; 31 (54.4%) were male. Poor glycemic control at 1 year was observed in 16 patients (28.1%). Although individual subscale positivity was not significantly associated with glycemic control, borderline somatic complaints on the CBCL were significantly associated with poor control (p=0.022). In multivariate analysis, having 2 or more positive CBCL subscales showed a trend toward association with poor glycemic control (adjusted odds ratio=21.47, p=0.054). Conclusion Early psychological screening, especially for somatic symptoms or multiple psychological problems, may help identify those at risk for poor glycemic control in pediatric diabetes. These findings underscore the importance of early detection and intervention in optimizing diabetes management.

Purpose: In this study, the neural communication patterns between hypothalamic structures and cortical areas in girls diagnosed with central precocious puberty (CPP) were explored. Endocrine profiles were incorporated to clarify the pathophysiological interactions between cerebral networks and hormonal regulation. The hypothalamus was designated as the key focus area for connectivity analysis. Methods: Fifty-seven girls (37 CPP, 20 non-CPP) were recruited from the Pediatric Development Clinic at the Second Affiliated Hospital of Anhui Medical University. The collected data included demographic information, gonadotropin-releasing hormone stimulation tests, and magnetic resonance imaging scans. Hypothalamic functional connectivity (FC) was analyzed using predefined region of interest coordinates, and correlations between hormone levels and FC values were assessed. Results: Compared to the non-CPP group, the CPP group exhibited elevated baseline follicle-stimulating hormone (FSH), baseline luteinizing hormone (LH), peak FSH, peak LH, and peak LH/FSH ratios. Patients with CPP exhibited enhanced neural synchronization linking the right lateral hypothalamic effector zone to the right superior frontal gyrus (displaying a borderline significant correlation with peak LH concentrations), concurrent with diminished functional coupling of the right lateral hypothalamic efferent to the right fusiform/supramarginal gyri. The left lateral hypothalamic projections demonstrated amplified connectivity with the right cuneus. No FC differences were observed in the medial hypothalamus. Conclusion Abnormal lateral hypothalamus FC patterns were identified in CPP girls and were particularly linked to peak LH levels. The findings offer novel insights into the neuroendocrine mechanisms underlying CPP.

Childhood and adolescent obesity are growing global health concerns, with genetic factors playing an important role. Despite the increasing prevalence of obesity in India, monogenic obesity remains underdiagnosed. We report 2 cases of early-onset morbid obesity due to melanocortin-4 receptor (MC4R) gene mutation. Case 1 was a 5-year-old boy who presented with severe hyperphagia and rapid weight gain since infancy. Case 2 was a 12-year-old girl who presented with progressive obesity, hyperphagia, and bilateral genu varum. Both patients exhibited severe insulin resistance with no syndromic stigmata. Genetic analysis confirmed a homozygous MC4R mutation in both cases. They were managed with a multidisciplinary approach that included dietary modification, structured physical activity, and pharmacotherapy using the glucagon-like peptide-1 analog liraglutide and metformin. Both cases showed a satisfactory response to liraglutide. These case reports highlight the point at which monogenic obesity can be clinically suspected and distinguished from syndromic obesity. Moreover, they underscore the role of genetic testing for monogenic obesity and the targeted therapies in its management.

Purpose: Down syndrome (DS) is associated with metabolic dysregulation, obesity, and increased risk of chronic inflammation. This study aimed to assess subclinical inflammation in children with DS by evaluating inflammatory biomarkers, such as high-sensitivity C-reactive protein (hs-CRP), and their association with metabolic parameters including ghrelin, lipid profiles, and vitamin D levels. Methods: A total of 49 children with DS (aged 1–18 years) and 22 age-matched healthy controls were enrolled. Anthropometric data, body fat percentage, and metabolic parameters were assessed. Inflammatory markers (hs-CRP, apolipoprotein-B [Apo B], adiponectin), metabolic hormones (ghrelin, insulin), and lipid profiles were determined from venous blood samples. Statistical analyses included bivariate correlation, analysis of variance, and multiple linear regression to identify predictors of inflammation. Results: Children with DS exhibited significantly higher hs-CRP levels than controls (p=0.03), indicative of increased systemic inflammation. Higher hs-CRP levels were associated with older age (r=0.33, p=0.006), greater obesity (body mass index: r=0.32, p=0.011), and elevated serum insulin and low-density lipoprotein levels. Ghrelin levels correlated negatively with Apo B (r=-0.41, p<0.001) and positively with hs-CRP (r=0.30, p=0.012). Predictors of inflammation (based on hs-CRP) included older age, male sex, higher gamma-glutamyl transferase level, and a diagnosis of DS (adjusted R²=0.276). Conclusion Children with DS are prone to metabolic inflammation, with increasing age and obesity exacerbating inflammatory responses. Clinicians should monitor and manage weight, dyslipidemia, and inflammation in this population to prevent long-term complications such as cardiovascular diseases and insulin resistance.

Purpose: Multiple protocols exist for the dosing and duration of human chorionic gonadotropin (hCG) and the sampling schedule of the hCG stimulation test. This study analyzes the testosterone response following a single-dose hCG test. Methods: This observational study analyzes 103 prepubertal undervirilized males who underwent a single-dose hCG test. A dosage of 1,500 IU was used for those under 2 years of age and 5,000 IU for those over. Testosterone levels were measured before and 72 hours after the hCG injection, and the fold of increase was analyzed. As part of the unit protocol, those with a suboptimal response to a single-dose test (n=19) underwent a 3-day hCG test. Results: A significant 23.65-fold increment of testosterone, with a poststimulated value of 167.26 (interquartile range [IQR], 62.30–279.15) ng/dL, was observed following a single dose of hCG. Of the 103 subjects, 19 (18.4%) had a subnormal response with testosterone levels of 8.20 (IQR, 3.48–29.70) ng/dL. A 3-day test on these 19 subjects showed a testosterone level of 18.4 (IQR, 10.6–64.2) ng/dL, which is statistically significant. However, the 3-day hCG test revealed an adequate response in only 3 patients. The remaining 16 did not achieve the expected outcome, and 15 of these patients had laboratory evidence of hypogonadism either genetically or biochemically. Conclusion A single-dose hCG stimulation test could serve as an alternative to a 3-day hCG test in the initial assessment of Leydig cell function, thereby avoiding repeated injections, hospital visits, and school absenteeism.

Stunting remains a major public health concern in Southeast Asia, and is shaped by a complex interplay of genetic, inflammatory, and nutritional factors. This scoping review sought to map genetic polymorphisms associated with stunting in Southeast Asian children and to identify candidate biomarkers for early diagnosis and biologically targeted interventions. Following the Arksey and O'Malley framework and the PCC (Population, Concept, Context) model, a systematic search was conducted across 7 databases. Eligible studies were peer-reviewed, published in English from 2015–2024, involved children under 18 years of age, and investigated gene variants in relation to stunting. A total of 902 records were screened independently by 3 reviewers using predefined criteria, with consensus procedures to resolve any discrepancies. Eleven studies met the final inclusion criteria. Thematic analysis and protein-protein interaction mapping revealed that 5 key polymorphisms—IGF1R, GHSR, MTRR, CASP1, and CARD17—were significant contributors to growth impairment. IGF1R polymorphisms were associated with a 2.46-fold increase in stunting risk (odds ratio [OR], 2.46; 95% confidence interval [CI], 1.60–3.78), while MTRR< variants yielded an OR of 1.93 (95% CI, 1.22–3.05). Similarly, GHSR and CASP1 polymorphisms were linked to increased odds of stunting (OR, 2.15; 95% CI, 1.38–3.34 and OR, 1.67; 95% CI, 1.10–2.54, respectively). These polymorphisms were consistently associated with disrupted growth hormone signaling, chronic inflammation, and nutrient-sensitive pathways. The biological network underlying stunting in this population points to a converging mechanism of impaired endocrine function and inflammatory dysregulation. However, this review’s scope is limited by underrepresentation of some Southeast Asian nations and exclusion of non-English literature. Early genetic screening for high-risk biomarkers and precision-driven nutritional interventions may offer more effective strategies to reduce the burden of stunting in Southeast Asian children.

Peroxisome biogenesis disorders (PBDs) are a genetically heterogeneous group of metabolic diseases caused by impaired peroxisome assembly and function. PBDs exhibit striking clinical variability, ranging from lethal neonatal forms (e.g., Zellweger spectrum disorders) to milder childhood-onset presentations such as rhizomelic chondrodysplasia punctata. While elevated levels of very-long-chain fatty acids (VLCFAs) remain a key diagnostic feature, the existence of unusual cases with normal plasma VLCFA levels highlight the limitations of relying solely on this biochemical marker for diagnosis. Genetic variations in PEX6, an important peroxisome biogenesis factor, contribute significantly to this phenotypic diversity, with missense variants often associated with less severe disease compared to truncating mutations. Recent studies further implicate dysregulated pexophagy—a targeted autophagic degradation of peroxisomes—in the underlying disease mechanisms. This review underscores the necessity for a multifaceted diagnostic approach that, thorough clinical assessment, detailed biochemical evaluation, and advanced molecular genetic testing, seeks to improve diagnostic accuracy and patient care, particularly in pediatric populations. Advancements in identifying novel biomarkers and targeted therapies offer promise for tailored interventions, underscoring the importance of precision medicine in optimizing outcomes for pediatric PBD patients.

Purpose: Pediatric hypertension and metabolic syndrome (MS) are increasing in parallel with childhood obesity. Variations in diagnostic thresholds between the Endocrine Society (ES) and American Academy of Pediatrics (AAP) guidelines may affect detection and intervention timing. Methods: We analyzed data from 1,035 Korean adolescents aged 13–17 years drawn from the Korea National Health and Nutrition Examination Survey (2014–2016). Blood pressure (BP) abnormalities and MS were assessed according to ES and AAP guidelines. Differences by sex, age, and body mass index (BMI) category were examined. Results: The ES guidelines identified significantly more cases of diastolic BP (DBP) abnormalities than the AAP guidelines. For example, ES identified DBP abnormalities in 15.2% in 16-year-old males versus 8.1% identified by AAP. This difference was especially prominent for prehypertensive categories. ES percentile-based thresholds were more sensitive to subtle diastolic elevations, while AAP uses fixed cutoffs that may underestimate early risk. MS prevalence exceeded 30% in multiple age groups among adolescents with BMI≥85th percentile. However, MS prevalence did not significantly differ between the 2 guidelines in any age or sex subgroup. Conclusion Awareness of hypertensive status is essential in the era of increasing childhood and adolescent obesity. The ES guidelines might be more suitable for cardiometabolic screening in Korean adolescents than the AAP guidelines because they effectively detect hypertensive status, including DBP abnormalities.