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Autoimmune thyroid diseases (AITDs), including Hashimoto’s thyroiditis (HT) and Graves’ disease (GD), are the most common cause of acquired thyroid disorder during childhood and adolescence. Our purpose was to assess the main features of AITDs when they occur in association with genetic syndromes. We conducted a systematic review of the literature, covering the last 20 years, through MEDLINE via PubMed and EMBASE databases, in order to identify studies focused on the relation between AITDs and genetic syndromes in children and adolescents. From the 1654 references initially identified, 90 articles were selected for our final evaluation. Turner syndrome, Down syndrome, Klinefelter syndrome, neurofibromatosis type 1, Noonan syndrome, 22q11.2 deletion syndrome, Prader–Willi syndrome, Williams syndrome and 18q deletion syndrome were evaluated. Our analysis confirmed that AITDs show peculiar phenotypic patterns when they occur in association with some genetic disorders, especially chromosomopathies. To improve clinical practice and healthcare in children and adolescents with genetic syndromes, an accurate screening and monitoring of thyroid function and autoimmunity should be performed. Furthermore, maintaining adequate thyroid hormone levels is important to avoid aggravating growth and cognitive deficits that are not infrequently present in the syndromes analyzed.

Background: Genetic causes of growth failure should be suspected in patients born small for gestational age (SGA) who fail to show postnatal catch-up growth, present with severe short stature (SS), and exhibit a poor or absent response to growth hormone (rhGH) therapy. Mutations in the insulin-like growth factor 1 receptor (IGF1R) gene are associated with impaired growth, intrauterine growth restriction (IUGR), low birth weight and/or length, and postnatal SS. Case Description: A 9-year-old boy, born SGA for birth length, was evaluated for severe SS. Common causes of SS were excluded. At 9 years and 7 months of age, his height was 112.6 cm (−3.99 SDS), weight 18 kg (−3.79 SDS), and BMI 14.2 kg/m2 (−1.8 SDS); pubertal development was Tanner stage 1. The target height was 158 cm (−2.62 SDS). Bone age was delayed by approximately one year compared with chronological age. Serum IGF-1 levels were within the upper-normal range for age. GH therapy (0.035 mg/kg/day) was initiated due to the lack of catch-up growth in an SGA subject. After three years of treatment, the height gain was only 0.5 SDS. IGF-1 levels showed a transient treatment-related increase, followed by persistent normalization during ongoing therapy. Next-generation sequencing (NGS) analysis identified novel heterozygous paternal nonsense variant in the IGF1R gene: c.3498C>G (p.Tyr1166Ter). At 12 years of age, impaired fasting glucose and reduced glucose tolerance were detected; consequently, it was decided to discontinue rhGH therapy, also in light of the IGF1R mutation and the lack of height recovery. Conclusions: This case underlines the critical role of genetic testing in the evaluation of patients born SGA. The coexistence of SGA status and an IGF1R gene mutation may provide a clear explanation for both the poor response to rhGH therapy and the increased risk of alterations in glucose metabolism. An extensive narrative review of the literature on growth outcomes and glucose metabolism abnormalities during GH treatment in SGA patients carrying IGF1R variants was also performed.

Filters and photoediting are widely used to transform or alter photos, mainly selfies, before sharing with friends or on social networks. In adult population there is a strong evidence of the potential risks of this behaviuor. Aim of the present work is to revise international literature exploring the correlation between photo manipulation and anorexia nervosa among children and adolescents. International literature focusing on photo manipulation and anorexia nervosa has been examined, according to the PRISMA Extension guidelines for Scoping Reviews using the following strategies: “Photomanipulation” Filters: English, Child: 6–12 years, Adolescent: 13–18 years, from 2000–2024 Pubmed Search: ((“Photography“[Mesh]) AND “Anorexia Nervosa“[Mesh]) AND “Anorexia Nervosa“[Majr] Filters: Adolescent: 13–18 years, Child: 6–12 years, from 2000–2024. According to the literature review strategy, only few and limited evidences are available for the pediatric population. As well as in adults, there is an increased risk for eating disorders in adolescents regularly sharing selfies and practicing photo manipulation. New social media and online chat may be associated with lower personal weight satisfaction, higher drive for thinness, and eating disorder symptoms. The Italian Pediatric Society Communication Group suggests to increase the awareness on the potential risks of photo manipulation among children and adolescents, suggesting the plan of more studies target to this population to gain evidence specifically, social campaigns and school education. Finally, the use of technology should be included as part of routine pediatric control visit, especially in the pre-adolescence period.

Adiposity rebound (AR) refers to the second rise of the body mass index (BMI) curve that usually occurs between six and eight years of age. AR timing has a significant impact on patients’ health: early AR (EAR), usually before the age of five, is considered to be the earliest indicator of obesity and its related health conditions later in life. Many studies have evaluated factors that can be predictors of EAR, and identified low birth weight and gestational weight gain as novel predictors of EAR, highlighting the role of the intrauterine environment in the kinetics of adiposity. Furthermore, children with breastfeeding longer than 4 months have been found to be less likely to have an EAR, whereas children born to advanced-age mothers, high maternal BMI had a higher risk of having an EAR. Some differences were found in the timing of AR in boys and girls, with girls being more likely to have EAR. The aim of this review is to answer the following three questions: 1) Which are the prenatal and perinatal factors associated with increased risk of EAR? Is gender one of these? 2) Which are the outcomes of EAR in childhood and in adulthood? 3) Which measures can be taken in order to prevent premature AR?

Background: Treatment with recombinant human growth hormone (rhGH) is approved for children born small for gestational age (SGA) who fail to show postnatal catch-up growth; however, optimizing its efficacy remains a challenge. Aim: to evaluate the impact of rhGH therapy on growth trajectory (GT) and adult height (AH) in SGA children and to identify factors influencing height gain (HG). Methods: A total of 49 SGA children (24 males, 25 females) without postnatal growth recovery and treated with rhGH were enrolled. Clinical and anthropometric data were collected at treatment initiation (T0), after 1 (T1) and 2 years (T2) of therapy, at pubertal onset (P0), during the first (P1) and second year (P2) of puberty, and at attainment of AH. Parameters included age, bone age, H, weight, BMI (all expressed as SDS), HG, and the difference between H and target height (Δ H-TH). Results: a significant increase in HG at all evaluated stages was observed (p < 0.05). The H–TH difference progressively decreased from T0, particularly until the first two years of puberty. Nevertheless, mean AH was −1.75 ± 0.63 SDS, and it was found to fall within the TH range in 86% of cases. Univariate and multivariate regression analysis revealed that age and H at T0 were independent predictors of HG. Conclusions: rhGH treatment has a positive impact on GT in children born SGA. Pubertal growth has a limited contribution in influencing AH of these patients. H and timing of treatment initiation significantly influence HG in SGA children. Early selection of patients for rhGH therapy could further improve their GT.

PurposeTo evaluate minipuberty (MP) in small for gestational age (SGA) infants, both preterm and full-term, during the first year of life.Methods33 SGA healthy newborns (group A), 21 of which full-term (subgroup A1) and 12 preterm (A2) were enrolled. Control group (B) consisted of 27 AGA, 17 full-term (subgroup B1) and 10 preterm (B2) infants. Growth parameters, FSH, LH, and Estradiol (E2) or Testosterone (T) serum levels were monitored at 3, 6, and 12 months.ResultsThe gonadotropin surge reached greater increase of LH in males at 3 months and FSH in females at 3, 6 and 12 months (p < 0.001). In male infants: T at 3 months was higher in subgroup A2 vs A1(p = 0.001), and correlated negatively with gestational age (GA, p < 0.005), length and weight at birth (p < 0.05); LH was higher in subgroup B2 vs B1 at 6 months (p = 0.003), and in group A vs B at 12 months (p = 0.03). Females displayed higher E2 at 6 months in B2 vs B1 (p < 0.05), negatively correlated with GA and weight gain (p < 0.05); LH at 6 months was increased in A2 vs A1 (p = 0.03). Overall, preterm males displayed higher T at 3 months (p = 0.001), LH at 3, 6 and 12 months (p < 0.05), and LH/FSH ratio at 6 months (p = 0.001). Preterm females exhibited increased LH/FSH ratio at 3 and 6 months (p < 0.05).ConclusionsIrrespectively of GA, MP occurred with a typical sexual dimorphism and exhibited sex-specific correlations between hormones and perinatal parameters. SGA condition and prematurity seemed to enhance and protract MP over time in both sexes.

Background: Childhood obesity is a global health concern. Early development of fundamental movement skills (FMS) and adherence to the Mediterranean diet (MD) are key modifiable factors for prevention. This study assessed the effectiveness of a multidisciplinary, school-based intervention for childhood obesity prevention. Methods: Children aged 3–5 years from a preschool in Messina, Italy, participated in a 9-month intervention integrating nutritional education and physical activity. FMS were evaluated using the MOBAK test. Anthropometric measurements and MD adherence (through the Kid-Med questionnaire) were collected. Caregivers completed an online survey reporting lifestyle changes. Results: Significant improvements were observed in FMS: object control (score 1) increased from 2.67 ± 1.78 to 4.28 ± 1.82, locomotor skills (score 2) from 4.69 ± 1.96 to 5.83, 5.83 ± 1.70, and total MOBAK score (score 3) from 7.35 ± 3.09 to 10.11± 2.94. (p < 0.001 for all). Kid-Med scores significantly improved from (3.79 ± 2.31 vs. 5.03 ± 2.69) (p = 0.0027), indicating enhanced MD adherence. Post-intervention, adherence was classified as poor (27.4%), moderate (53.2%), and optimal (19.4%). Although only a minority of parents reported lifestyle changes, over 50% noted increased fruit and vegetable intake in their children. Males showed higher FMS scores and waist circumference compared to females. Conclusions: A school-based multidisciplinary intervention significantly improved motor competence and dietary habits in preschool children. These findings underscore the importance of early, integrated strategies involving families and educators to support healthy development and prevent childhood obesity.

Background: SET domain-containing 5 (SETD5) is a member of the protein lysine-methyltransferase family. SETD5 gene mutations cause disorders of the epigenetic machinery which determinate phenotypic overlap characterized by several abnormalities. SEDT5 gene variants have been described in patients with KBG and Cornelia de Lange (CdL) syndromes. Case description: A female patient with severe short stature and intellectual disability had been followed since she was 9 years old. Several causes of short stature were ruled out. At the age of 12 years, her height was 114 cm (−5.22 SDS), weight 19 kg (−5.88 SDS), BMI 14.6 kg/m2 (−2.26 SDS), and was Tanner stage 1. The target height for the proband was 151.65 cm (−1.80 SDS). The bone age (BA) was delayed by 3 years compared to chronological age. The growth rate was persistently deficient (<<2 SDS). Physical examination revealed dysmorphic features. Genetic analysis documented a de novo SETD5 gene mutation (c.890_891delTT), responsible for phenotypes in the context of an overlap syndrome between the phenotype of MDR23, CdL and KBG syndromes. Recombinant growth hormone therapy (rhGH) was started at the age of 12 years. After both one year (+3.16 SDS) and two years (+2.9 SDS), the growth rate significantly increased compared with the pre-therapy period. Conclusion: This is the first case of a patient with overlap syndrome due to SETD5 mutation treated with rhGH. The review of the scientific literature highlighted the clinical and molecular features of SETD5 gene mutation and the use of rhGH therapy in patients suffering from CdL and KBG syndromes.

The increasing prevalence of childhood obesity has been accompanied by an increase in consumption of ultra-processed foods (UPF), characterized by high energy density and low nutritional quality. Emerging evidence suggests that dietary patterns rich in UPF may contribute to low-grade systemic inflammation and early metabolic dysfunction in children and adolescents. Objective: This systematic review aimed to evaluate the association between UPF consumption and markers of inflammation and metabolic health in pediatric populations. Methods: A systematic literature search was conducted on PubMed in accordance with PRISMA guidelines. Observational and interventional studies evaluating UPF intake or diet-related inflammatory potential in children and adolescents (≤18 years) were included. Outcomes of interest included inflammatory biomarkers (e.g., C-reactive protein, interleukins, tumor necrosis factor-α) and metabolic parameters (e.g., insulin resistance, lipid profile, glucose metabolism). Results: A limited number of studies have directly assessed UPF consumption using the NOVA classification. Overall, these studies suggest a potential association between increased UPF intake and adverse metabolic outcomes, although findings on inflammatory markers remain inconsistent. A larger body of indirect evidence, including studies assessing dietary inflammatory indices and related dietary patterns, consistently supports a link between pro-inflammatory diets and increased inflammation and metabolic dysregulation in pediatric populations. Conclusions: Although direct evidence on UPF consumption remains limited, the available findings, supported by complementary indirect evidence, suggest a plausible relationship between UPF-rich diets, inflammation, and metabolic health in children and adolescents. Further well-designed studies are needed to clarify causality and improve the standardization of dietary assessment methods.