Purpose:Iodine-based contrast media (ICM) can disrupt thyroid function in young children due to immature thyroid autoregulation. The U.S. FDA has recently recommended monitoring thyroid function in children <3 years following ICM exposure. However, the necessity of routine monitoring remains debated due to limited data. This study aimed to determine the prevalence and risk factors for thyroid dysfunction following ICM exposure in children <3 years. Methods:An ambidirectional cohort study was conducted in children <3 years who underwent ICM-enhanced imaging. Exclusion criteria included pre-existing thyroid disease, non-thyroidal illness, or abnormal baseline thyroid function tests (TFTs). TFTs were assessed at baseline and 2-3 weeks post-exposure. Prevalence and factors associated with ICM-induced thyroid dysfunction were analysed. Results:Of 80 participants, the mean age at exposure was 198.5 days (range: 2-881 days). Eleven children (13.8%) developed thyroid dysfunction: three required levothyroxine, five had transient hyperthyrotropinemia, two were lost to follow-up, and one initially had transient hyperthyrotropinemia but was later diagnosed with central hypothyroidism. Among those treated, one infant with Down syndrome developed overt hypothyroidism (TSH 152 µIU/L, FT4 0.41 ng/dL), while two others had persistently elevated TSH. ICM-induced thyroid dysfunction was associated with age <6 months (adjusted OR 11.32 [95% CI: 1.34-95.97], P=0.026), and multiple anomalies/syndromic diagnosis showed a trend toward increased risk (adjusted OR 4.98 [95% CI: 0.97-25.63], P=0.055). Conclusions:Thyroid dysfunction occurred in 13.8% of children <3 years after ICM exposure, with some requiring hormonal therapy. Targeted thyroid monitoring is warranted, especially infants <6 months.
Purpose:Children with chronic illness are vulnerable to compromised bone health. Dual-energy X-ray absorptiometry (DXA) is commonly used for assessment but has limitations related to body size adjustments and positioning, highlighting the need for accessible alternatives. This study evaluated the correlation between the Bone Health Index (BHI), derived from automated hand radiograph analysis, and areal bone mineral density (BMD) measured by DXA in Chinese children with chronic illness. Methods:In this retrospective study, Chinese children undergoing simultaneous DXA and hand radiography were included. Correlations between BHI metrics and DXA-derived BMD Z-scores were assessed. Results:A total of 327 patients were analyzed. Absolute BHI values showed negligible correlation with DXA-derived BMD at the lumbar spine (LS) (r = 0.10, p = 0.05) and total body less head (TBLH) (r = 0.00, p = 0.35). BHI standard deviation scores (SDS) exhibited moderate positive correlations with DXA BMD Z-scores (LS: r = 0.42, p <0.001; TBLH: r = 0.43, p <0.001). In steroid-treated patients, these correlations were weaker (LS: r = 0.30, p =0.007; TBLH: r = 0.30, p 0.001). Conversely, steroid-naïve patients exhibited stronger correlations (LS: r = 0.48, p<0.001; TBLH: r = 0.53, p<0.001). Conclusion:In steroid-treated patients, BHI SDS correlated weakly with DXA-derived BMD Z-scores, whereas steroid-naïve patients exhibited moderate correlations. This highlights that BHI and DXA BMD assess distinct bone properties that are differentially influenced by systemic treatment like glucocorticoids. Consequently, BHI should be regarded as a complementary tool rather than serving as a direct surrogate for DXA.
Purpose:The long-term impact of continuous glucose monitoring (CGM) initiation on glycemic trajectories in children and adolescents with type 1 diabetes (T1D) remains unclear. We assessed 5-year glycated hemoglobin (HbA1c) trajectories according to CGM initiation timing in Korean children and adolescents with T1D. Methods:We retrospectively analyzed patients diagnosed with T1D at ≤18 years between 2015 and 2024 at a single pediatric diabetes center. Patients were categorized by CGM initiation timing (<1 month, 1-<12 months, ≥12 months, or no-CGM use). HbA1c was assessed at prespecified intervals up to 60 months, and adjusted trajectories and rates of change were estimated with linear mixed-effects models accounting for repeated measurements within patients. Results:Among 216 patients (mean follow-up, 61.3 ± 34.8 months), 69.9% used CGM and 40.7% initiated within 1 month of diagnosis. Baseline HbA1c was higher in the early-CGM group than in the delayed/no-CGM group (12.5% [IQR, 11.0-13.9] vs 11.1% [IQR, 8.8-13.2]; p<0.001), but converged within 12 months. Median HbA1c at 60 months was 6.8%, 6.8%, 7.7%, and 7.3% in the <1-month, 1-<12-month, ≥12-month, and no-CGM groups; the proportion achieving HbA1c <7.0% fell from 86.4% at 9 months to 47.1% at 60 months in the no-CGM group, which alone showed a rising trajectory in mixed-effects models (+0.27% per year; p<0.001). Conclusion:Early CGM initiation after T1D diagnosis was associated with more favorable 5-year HbA1c trajectories compared with delayed initiation or no CGM use, supporting routine early CGM adoption in pediatric T1D management.
Intrathyroidal ectopic thymus (IET) is a benign condition caused by aberrant thymic migration during embryogenesis. Often detected incidentally on ultrasound (US), it can mimic malignant thyroid nodules, leading to unnecessary interventions. We aimed to define the imaging characteristics of IET and emphasize an accurate diagnosis to avoid unwarranted procedures. We describe 5 pediatric cases of IET diagnosed by cervical US and monitored through long-term serial imaging. All lesions appeared as intrathyroidal nodules with echogenicity and internal foci typical of thymic tissue. Follow-up imaging showed no significant changes. None of the patients had thyroid dysfunction or clinical symptoms. The distinctive sonographic features of IET can differentiate it from malignant nodules, preventing unnecessary biopsies or surgeries. US follow-up confirmed a benign course and supports conservative management strategies.
Pediatric obesity is a growing global concern because it leads to an increased prevalence of abnormal glucose metabolism, including dysglycemia, prediabetes, and type 2 diabetes. Those conditions are associated with significant cardiovascular risk factors such as dyslipidemia, hypertension, metabolic dysfunction-associated steatotic liver disease, and sleep disturbances. Insulin resistance is a key contributor to the pathophysiology of those conditions, and the physiological reduction in insulin sensitivity during puberty further contributes to their pathogenesis in youth. However, insulin sensitivity improves after puberty, leading to spontaneous normalization of glucose metabolism in most individuals and complicating the concept of prediabetes. Therefore, general population screening for diabetes in youth is not recommended except in certain populations with high prevalence. When prediabetes is identified, lifestyle modification remains the primary intervention because pharmacologic treatments have yet to show efficacy in youth. This review explores the definitions, risk factors, screening recommendations, and management strategies for prediabetes in children and adolescents and highlights the limitations of applying adult-based diagnostic criteria to the pediatric population.
Purpose: Polyethylene glycol-recombinant human growth hormone (PEG-rhGH) is the first commercial long-acting rhGH preparation approved in China. This study was designed to assess the efficacy and safety of PEG-rhGH in treating growth hormone deficiency (GHD) during the transition period. Methods: A prospective, multicenter and single-arm study was performed. The entire study duration spanned 66 weeks, comprising a 2-week trial screening phase, a 12week dose-adjustment period, and a 52-week PEG-rhGH treatment phase. A total of 10 interviews were conducted over the course of the study. The primary endpoint was change in body composition; secondary endpoints were changes in lumbar bone mineral density (BMD, L1-4) and lean body mass (LBM). Sex- and age-specific equations were developed to adjust body composition z-scores. Results: : A total of 31 subjects were included in this study. Throughout the 64-week therapy with PEG-rhGH, the insulin-like growth factor-1 (IGF-1) standard deviation score (SDS) demonstrated progressive elevation from baseline (-3.07 to -1.38; P<0.001). Significant alterations in body composition parameters were observed throughout the study. Body weight increased 3.96 kg (P<0.001), and the body weight SDS exhibited significant elevation from baseline (0.67) to 64 weeks (1.14; P=0.005). LBM significantly increased (4.54 kg; P<0.001), but there was a statistically significant reduction in fat percentage (Fat%) from 37.40% to 33.94% (P=0.008) and Fat% SDS from 1.91 to 1.47 (P= 0.009). The lumbar BMDz-score improved from-1.54 at baseline to-1.12 postintervention, but did not reach statistical significance (P>0.05). The triglyceride (TG) levels of the subjects decreased significantly at week 64 (P=0.018). There was no statistically significant difference in the changes of other lipid profile indicators. In this study, no adverse events attributable to direct drug-related causes were identified. Conclusion: Based on our study, PEG-rhGH can improve IGF-1 levels and alter body composition parameters by increasing LBM and decreasing body fat and TG levels in patients with GHD during the transition period, and it has a comparable safety profile and helps improve therapeutic adherence.
Differentiated thyroid cancer (DTC) is the most common form of pediatric thyroid cancer, yet its management has been largely based on evidence from adults. Recent advances in science and clinical studies of pediatric DTC, particularly in papillary thyroid carcinoma, the predominant subtype, now form the basis of emerging paradigms and revised guidelines. The potential of malignancy in thyroid nodules, as defined by current ultrasound risk stratification systems, has been evaluated in pediatric patients, enabling evidence-based indication for fine-needle aspiration biopsy. Observational studies comparing the effect of different interventions on prognosis, complications, and quality of life, challenge traditional surgical approaches in favor of potentially less extensive initial resection. Recognition of distinct underlying oncogenic drivers has not only paved the way for discoveries in the biology of pediatric thyroid cancer but has also advanced the era of targeted systemic therapy for progressive and metastatic pediatric DTC. Certain genome alterations, particularly oncogenic gene fusions that are more common in pediatric DTC, can now be targeted with small-molecule inhibitors, offering more effective therapy for metastatic disease with fewer and less severe adverse effects. This review offers an evidence-based summary of these data and the evolving trends in the diagnosis and management of pediatric DTC.
Blau syndrome is a rare granulomatous autoinflammatory disease typically characterized by a triad of polyarthritis, uveitis, and dermatitis. It is caused by either an inherited autosomal dominant pathogenic variant or a de novo pathogenic variant in NOD2. In this report, we present an 11-month-old boy with Blau syndrome who initially presented with calcitriol-mediated hypercalcemia. Severe hypercalcemia was controlled with intravenous fluids, diuretics, calcitonin, and a short course of corticosteroids. Following resolution of the hypercalcemic episode, the patient gradually developed the full clinical spectrum of Blau syndrome, including the classic triad, along with hepatosplenomegaly, lymphadenopathy, and bone marrow involvement. Trio genome sequencing identified a de novo heterozygous pathogenic variant in NOD2. Following the genetic diagnosis, corticosteroids and methotrexate were initiated to control the disease. This is the first reported case of Blau syndrome presenting with hypercalcemia as an initial manifestation, preceding the development of the classic triad. This case underscores the importance of considering Blau syndrome in the differential diagnosis of early-onset hypercalcemia of unknown etiology. Molecular genetic testing should be pursued in such cases to facilitate an accurate and timely diagnosis and appropriate management.
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.
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.
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.
