Background/Objectives: Skeletal dysplasias are a heterogeneous group of rare genetic disorders with diverse and overlapping clinical presentations, posing diagnostic challenges even for experienced clinicians. With the increasing availability of artificial intelligence (AI) in healthcare, large language models (LLMs) offer a novel opportunity to assist in rare disease diagnostics. This study aimed to compare the diagnostic accuracy of two advanced LLMs, ChatGPT (version GPT-4) and DeepSeek, with that of a clinical expert panel in a cohort of pediatric patients with genetically confirmed skeletal dysplasias. Methods: We designed a prospective vignette-based diagnostic benchmarking study including 45 children with confirmed skeletal dysplasias from two tertiary centers. Both LLMs were prompted to provide primary and differential diagnoses based on standardized clinical case vignettes. Their outputs were compared with those of two human experts (a pediatric endocrinologist and a pediatric orthopedic surgeon), using molecular diagnosis as the gold standard. Results: ChatGPT and DeepSeek achieved a comparable diagnostic top-3 accuracy (62.2% and 64.4%, respectively), with a high intermodel agreement (Cohen’s κ = 0.95). The expert panel outperformed both models (82.2%). While LLMs performed well on more common disorders, they struggled with ultra-rare and multisystemic conditions. In one complex case missed by experts, the DeepSeek model successfully proposed the correct diagnosis. Conclusions: LLMs offer a complementary diagnostic value in skeletal dysplasias, especially in under-resourced medical settings. Their integration as a supportive tool in multidisciplinary diagnostic workflows may enhance early recognition and reduce diagnostic delays in rare disease care.

Children with a classic form of congenital adrenal hyperplasia (CCAH) have a potentially increased risk of unfavorable cardiometabolic events due to the interplay of corticosteroid treatment, hyperandrogenism, and other factors. Although readily recognized in adults, these aspects are frequently overlooked in children and youth with CCAH; Aim: To review the evidence available from studies regarding cardiometabolic health outcomes in CCAH patients; Methods: A review of the literature was performed following PRISMA guidelines, including studies published between 2000 and 2024. We included studies reporting cardiometabolic outcomes in children and adolescents (<18 years) with CCAH. Where pediatric data were sparse, additional data were obtained from studies with older adolescents and young adults (15–25 years). Cardiometabolic outcomes included risk factors, such as obesity, insulin resistance, lipids, blood pressure, and vascular markers; Results: Twenty-five studies were analyzed. The prevalence of obesity was found to be higher in children with CCAH, as well as of increased visceral adiposity. Higher indices of insulin resistance were also a frequent finding in children with CCAH. CCAH patients had higher systolic blood pressure and more frequently loss of nocturnal blood pressure dipping, particularly among salt-wasting subtypes and in younger children. Subclinical atherosclerosis was indicated by increased carotid intima–media thickness, elevated hs-CRP, and impaired endothelial function. Other findings suggested changes in lipid profiles, particularly decreased HDL-c and increased triglycerides, although the findings were less consistent; Conclusions: Compared with the general pediatric population, children with CCAH were found to have an increase in multiple cardiometabolic risk factors. It is therefore vital to monitor these risk factors in pediatric CCAH, as well as tailoring treatment with cardiometabolic health in mind, to achieve better long-term cardiovascular and metabolic outcomes. Future research should focus on longitudinal studies of cardiometabolic outcomes and innovative therapeutic approaches to reduce these risks in patients with CCAH.

Type 1 diabetes (T1D) is a condition that affects all aspects of life, and thus is closely related to the quality of life itself. Dealing with it during the COVID-19 pandemic is a big challenge. A case–control study conducted in Montenegro at the end of 2021 included 87 elementary school students with T1D and 248 of their peers as controls matched by gender. Standardized questionnaires were distributed to participants (Peds-QL Generic core 4.0 questionnaire for all participants and Peds-QL Diabetes Module 3.2 only for cases). Based on them, the results of obtained scores were measured and compared using non-parametric statistical methods in relation to gender, region and type of household. Children with T1D reported lower quality of life comparing to matching controls with lower scores in almost all domains. Differences in the same domains among patients and their classmates were also observed in the different gender subgroups, environment type subgroups and in the central region. Results of the study provide insights to prioritizing actions for children with diabetes care as well as for public healthcare planning.

Background: The presence of metabolic syndrome (MetS) in children predisposes them to steatotic liver disease, with or without liver enzyme alterations. Early diagnosis of the degree of liver damage can stop the progression to more severe dysfunction. Objectives: This study aimed to establish the link between liver enzyme levels and triglyceride and cholesterol values in pediatric patients with obesity, grouped according to MetS status and metabolic dysfunction-associated fatty liver disease (MAFLD). Methods: The retrospective observational study included 261 pediatric patients aged between 0 and 18 years diagnosed with obesity, MetS, and MAFLD. Before initiating the study, approval was obtained from the hospital’s Ethics Committee. The clinical and biochemical data were collected from the patients’ histories. Results: Alanine aminotransferase showed a significant positive correlation with triglyceride levels in the overall cohort, which became stronger in children with MetS and was strongest in those with ultrasonographically confirmed MAFLD. Similarly, aspartate aminotransferase demonstrated a weak positive correlation with triglycerides in the overall population, which increased in patients with MetS and became strong in children with MAFLD. Conclusions: In children with MetS and ultrasound-diagnosed MAFLD, liver enzymes showed progressively stronger positive correlations with triglyceride levels, indicating a close link between dyslipidemia and liver damage. Associations between liver enzymes and total cholesterol further support metabolic dysregulation, rather than body mass index alone, as a key driver of pediatric steatotic liver disease and highlight the value of targeted liver enzyme assessment in children with MetS or hypertriglyceridemia.

Childhood obesity is an important global health issue closely related to metabolic syndrome and metabolic dysfunction-associated fatty liver disease (MASLD), currently the most common chronic liver disease in children. Oxidative stress and insulin resistance are the driving forces in hepatocyte injury and disease progression. There is growing interest in new biomarkers for detecting and monitoring metabolic and hepatic changes. We aimed to synthesize current evidence regarding biomarkers of oxidative stress and MASLD, and the potential modulatory role of selenium in pediatric populations. A literature search of PubMed, Scopus, Web of Science, and the Cochrane Library identified studies in children and adolescents (0–18 years) published between January 2000 and December 2025. Associative diagnostic biomarkers included indicators of oxidative damage, antioxidant-defense markers, and integrated oxidative stress indices, which appear promising but lack pediatric reference ranges, while prognostic biomarkers capture the inflammatory consequences of redox imbalance but with limited liver specificity. Metabolomics profiling and multiomics approaches remain experimental. Selenium, an essential trace element with antioxidant properties, plays a role in maintaining redox balance through selenoproteins, but pediatric evidence is limited and at times contradictory. Few biomarkers are clinically ready. Further longitudinal studies in pediatric populations are needed to better clarify the role of selenium, as well as to support the development of age-appropriate diagnostic strategies utilizing multiomics for MASLD, empowering clinicians to implement timely interventions in childhood obesity.