Annals of Pediatric Endocrinology & Metabolism最新文献

Purpose: Continuous glucose monitoring (CGM) is recommended by clinical guidelines for children and adults with type 1 diabetes mellitus (T1DM) to improve clinical outcomes. In Thailand, CGM was incorporated into the Universal Healthcare Coverage (UHC) program in mid-2023. This study aimed to evaluate preliminary clinical outcomes and device adoption at a single tertiary care center. Glycemic outcomes were assessed before and after CGM use following the UHC reimbursement program and results were compared across 4 groups: self-monitoring blood glucose, CGM, open-loop insulin pump, and hybrid closed-loop (HCL). CGM adherence and parameters were also analyzed.

Methods: This retrospective-prospective study collected and analyzed demographic data, hemoglobin A1c (HbA1c) levels, and CGM parameters.

Results: A total of 142 T1DM patients (median age, 17.3 years; range, 3.5-69.2 years) were included. Baseline HbA1c was 8.1%±1.5%, with no significant differences among groups (P=0.223). The HCL group showed the largest HbA1c reduction at 12 months (-0.99%, P= 0.001), particularly in patients <18 years (-1.21%, P=0.014). CGM users showed improvements in HbA1c (-0.29%) and a higher proportion achieving time in range (TIR) ≥70% at 12 months (69.2% vs. 47.1%, P=0.08), though this was not statistically significant. Preliminary CGM uptake was 12% (17 of 142). The HCL group exhibited higher TIR and better sensor adherence (P<0.05), while other groups showed no significant changes.

Conclusion: The HCL system significantly improved glycemic outcomes, particularly in younger patients. However, CGM adoption remains low, highlighting the need for expanded access, enhanced reimbursement policies, and improved adherence strategies.

Purpose: Early differentiation between transient congenital hypothyroidism (TCH) and permanent congenital hypothyroidism (PCH) is crucial for optimizing the duration of treatment. This retrospective cohort study aimed to evaluate whether levothyroxine (LT4) dose requirements over time can predict TCH and guide earlier discontinuation of treatment.

Methods: We retrospectively analyzed 105 infants with congenital hypothyroidism and normal thyroid glands confirmed by imaging at a single tertiary care center (Inha University Hospital) between January 2013 and December 2022. Patients were classified into TCH (n=70) or PCH (n=35) based on thyroid function after LT4 withdrawal at 3 years of age. LT4 dose/kg at 6, 12, and 24 months, along with clinical and biochemical parameters, were compared between the 2 groups. Receiver operating characteristic (ROC) curve analysis was used to assess the predictive performance of LT4 dose thresholds.

Results: The LT4 dose was significantly lower in the TCH group at 6 (3.16±0.83 μg/kg vs. 3.75±0.99 μg/kg, P=0.005), 12 (2.51±0.82 μg/kg vs. 3.37±1.17 μg/kg, P<0.001), and 24 months (2.02±0.61 μg/kg vs. 3.09±1.19 μg/kg, P<0.001). ROC curve analysis showed an area under the curve (AUC) of 0.649, 0.746, and 0.794 at 6, 12, and 24 months, respectively. A logistic regression model incorporating LT4 dose, birth weight, and thyroid-stimulating hormone (TSH) levels improved prediction accuracy (AUC: 0.740, 0.782, 0.833 at 6, 12, and 24 months, respectively).

Conclusion: LT4 dose requirements at 6, 12, and 24 months serve as useful indicators for differentiating TCH from PCH. A combined predictive model incorporating LT4 dose, birth weight, and TSH levels may improve diagnostic accuracy, supporting earlier discontinuation of treatment.

Purpose: Prematurity and low birth weight increase cardiovascular risk, including hypertension (HTN). However, the combined effect of these factors along with others in the development of HTN is unclear. This study aimed to identify changes in blood pressure in small-for-gestational-age (SGA) patients treated with recombinant human growth hormone (rhGH) by comparison with healthy controls.

Methods: We conducted a case-control study with 72 SGA and healthy controls, aged 6 to 16 years. Blood pressure was assessed through office and 24-hour ambulatory blood pressure monitoring (ABPM) recordings (at least 40 measurements including daytime and nighttime), and results were compared between SGA children on rhGH treatment and healthy peers.

Results: Forty-six SGA children (41% preterm) on rhGH therapy and 26 healthy controls were enrolled. Despite an average of 5 years of rhGH treatment, no significant difference in HTN frequency was found between groups. However, multiple regression analysis revealed a 0.451 increase in 24-hour diastolic blood pressure (DBP) standard deviation score (SDS) in SGA children on rhGH (P=0.032). Daytime DBP SDS was also increased (0.462; P=0.042). An inverse correlation between weight and gestational age at birth was established. SGA children in the prepubertal stage showed a greater increase in 24-hour DBP SDS than those in the pubertal stage (0.499; P=0.009). Overweight was independently associated with increased 24-hour (0.950; P=0.002) and daytime DBP SDS (1.005; P=0.001).

Conclusion: Prolonged rhGH treatment in SGA patients did not increase the risk of HTN. However, ABPM detected subtle changes that highlight the need for careful blood pressure monitoring in overweight prepubertal children.

Purpose: We aimed to compare the final adult height (FAH) of male patients with central precocious puberty (CPP) after treatment with a gonadotropin-releasing hormone agonist (GnRHa). Specifically, we compared FAH with the target height (TH) and the predicted adult height (PAH) before and after GnRHa treatment to quantify height gain and identify predictive factors.

Methods: We retrospectively reviewed the medical records of 92 male patients with CPP and known FAH after GnRHa treatment at the Department of Pediatrics of Severance Children's Hospital between January 2000 and June 2024.

Results: The mean duration of GnRHa treatment was 2.7±1.3 years. A significant 1.1±0.9 years narrowing was observed in the difference between bone age (BA) and chronological age (CA) during treatment (P<0.001). TH was 172.4±3.4 cm. FAH was 173.6±6.4 cm. FAH was greater than TH by 1.2±5.9 cm (P=0.047). PAH before and after treatment was 179.9±8.1 and 181.2±7.4 cm, respectively. PAH was increased by 1.3±4.9 cm (P=0.012) after treatment. As the PAH standard deviation score (SDS) before GnRHa treatment increased, FAH tended to exceed TH. In contrast, higher testosterone levels before treatment are associated with FAH falling below TH. A longer duration of treatment and taller TH are associated with an FAH SDS greater than height SDS before treatment. Conversely, a greater weight SDS, BA-CA difference, and testis size before treatment are associated with FAH SDS being less than height SDS before GnRHa treatment.

Conclusion: GnRHa treatment improved FAH and inhibited bone maturation in male patients with CPP.

Purpose: This study aims to examine the prevalence of overweight and obesity in children with type 1 diabetes mellitus (T1DM) in Hong Kong and to evaluate the association between obesity, glycemic control, and metabolic comorbidities.

Methods: A retrospective cross-sectional study was conducted from 2022-2023 at the Hong Kong Children's Hospital, enrolling all children with T1DM. Anthropometric measurements and biochemical data were extracted from medical records, and prevalence rates of metabolic complications were compared.

Results: One hundred twenty-six children (41% male, 89% Asian) with a median age of 12.8 years were included. Of these, 17.5% were either overweight or obese. There were no significant differences in hemoglobin A1c values between the normal-weight and overweight/obesity groups, though the latter group required higher total daily insulin doses. Children with overweight/obesity had higher prevalence rates of hypertension (28.6% vs. 2.9%) and dyslipidemia (90.5% vs. 71.9%). They were also more likely to have hypertension (adjusted odds ratio [aOR], 18.48; 95% confidence interval [CI], 3.42-99.94) and hypertriglyceridemia (aOR, 7.71; 95% CI, 1.66-35.76). The overweight/obese group also exhibited significantly higher alanine aminotransferase levels (median, 18 IU/L vs. 14 IU/L), non-high-density lipoprotein cholesterol (HDL-C) levels (median, 3.3 mmol/L vs. 2.9 mmol/L), and triglyceride/HDL-C ratios (median, 1.09 vs. 0.52) and lower HDL-C levels (median, 1.4 mmol/L vs. 1.6 mmol/L). Among those with dyslipidemia, only 8% were started on lipid-lowering agents, while none of those with hypertension were started on antihypertensive agents.

Conclusion: Despite a lower prevalence of overweight/obesity in Asian children with T1DM compared to Western populations, metabolic comorbidities occur at an exceptionally high rate. Early interventions to tackle these modifiable cardiovascular risk factors are crucial to prevent long-term complications.

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.

Purpose: This study aimed to investigate correlations among body composition, bone parameters, and biomarkers in boys and girls with excess body fat percentage (%fat).

Methods: Healthy boys and girls aged 13-14 years with >95th percentile %fat for age and sex were included. Body composition and bone parameters of the whole body (WB) were measured using dual-energy x-ray absorptiometry. Serum biomarkers were measured via enzyme-linked immunosorbent assay. Comparisons of these parameters between sexes were analyzed using bivariate and multivariate correlation analyses.

Results: Boys and girls had no differences in %fat or body fat mass (BFM), but boys had more lean body mass (LBM) than girls. %Fat and BFM were key negative predictors of %bone in both sexes, while serum parathyroid hormone (PTH) and C-terminal cross-linking telopeptide (CTX) were predictors of %bone in girls. Both PTH and CTX were correlated with %bone in boys. Serum leptin was a predictive factor of %bone in both sexes. In addition, %bone was strongly correlated with bone mineral density (BMD) z-score and BMD z-score of participants was negatively correlated with %fat and BFM. In girls, %fat, PTH, and leptin were predictors of BMD z-score. Furthermore, BFM in girls and both BFM and LBM in boys were positively correlated with WB bone mineral content.

Conclusion: Excess %fat has a deleterious effect on WB bone in both boys and girls, potentially due to bone resorption. BFM may have a protective effect on bone through a mechanical loading mechanism.