Disorders/differences of sex development (DSDs) are defined as broad, heterogenous groups of congenital conditions characterized by atypical development of genetic, gonadal, or phenotypic sex accompanied by abnormal development of internal and/or external genitalia. NR5A1 gene mutation is one of the principal genetic alterations implicated in causing DSD. This review outlines the role of NR5A1 gene during the process of gonadal development in humans, provides an overview of the molecular and functional characteristics of NR5A1 gene, and discusses potential clinical phenotypes and additional organ diseases due to NR5A1 mutations. NR5A1 mutations were analyzed in patients with 46,XY DSD and 46,XX DSD both during the neonatal and pubertal periods. Loss of function of the NR5A1 gene causes several different phenotypes, including some associated with disease in additional organs. Clinical phenotypes may vary, even among patients carrying the same NR5A1 variant, indicating that there is no specific genotype–phenotype correlation. Genetic tests are crucial diagnostic tools that should be used early in the diagnostic pathway, as early as the neonatal period, when gonadal dysgenesis is the main manifestation of NR5A1 mutation. NR5A1 gene mutations could be mainly associated with amenorrhea, ovarian failure, hypogonadism, and infertility during puberty. Fertility preservation techniques should be considered as early as possible.

Background: Childhood obesity represents a major public health issue worldwide. Evidence showed the need to implement prevention strategies mainly focused on lifestyle habits. Sleep hygiene is a variable of great interest and this review systematically examined the effects of sleep duration in increasing childhood obesity riskMethods: A systematic literature review was conducted from December 2023 to February 2024. Study selection and data extraction procedures were performed in accordance with Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) Guidelines and Statement, and risk of publication bias was assessed by the Effective Public Health Practice Project Quality Assessment Tool for Quantitative Studies.Results: Original works in English were eligible for review and eleven studies that met the inclusion criteria were included. Studies collected were heterogeneous in terms of duration, sample characteristics, hours of sleep manipulation, anthropometric and hematological parameters collected, therefore it was not possible to perform a meta-analysis. A narrative synthesis of the reported evidence highlighted the impact of sleep duration above all on food intake, eating habits and hormone levels and consequently on the risk of childhood obesity development.Conclusion: This finding suggests the need to consider sleep hygiene as a modifiable lifestyle habit like diet and physical activity, in order to early prevent childhood obesity. Poor sleep hygiene can significantly contribute to weight gain and exacerbation of metabolic disorders linked to childhood obesity. Although more rigorous studies are needed, clinicians need to be aware of the role of sleep hygiene in reducing childhood obesity risk.

Background: The increasing rates of childhood obesity (CO) are an ongoing problem. We focused on the adherence to the Mediterranean diet (MD), physical activity, and sleep habits of preschool children in order to investigate the relationship between lifestyle habits and health outcomes through parental perception. Methods: In the context of “EpPOI: Education to prevent CO”, we investigated physical activity (PA) and sleep hygiene using an online survey for caregivers. Parents also completed the Mediterranean Diet Quality Index for children and adolescents (Kid-Med) questionnaire. Results: A total of 5.3% of the interviewees achieved a score indicating an adequate adherence to the MD. Additionally, 50.5% of children ate sweets every day, and 80% skipped breakfast. We also found that the parents’ perceptions of their children’s PA were a predictor of MD adherence, and PA was also positively correlated with fruit consumption [p < 0.034], vegetable consumption [p < 0.015], and fish consumption [p < 0.005]. Conclusions: Parents seem to be oriented towards a healthy lifestyle, but the children’s level of adherence to the Mediterranean diet is poor. CO prevention requires a synergic effort that includes an adherence to healthy eating patterns such as the MD and a greater awareness of parents on the importance of adopting a healthy lifestyle at an early age.

Introduction Emerging evidence suggests an association between obesity and Functional Gastrointestinal Disorders (FGIDs). Childhood obesity and FGIDs share many common features, such as high prevalence in the pediatric population, risk factors related to diet and lifestyle, gut microbiota impairments, and psychological distress. This narrative review aims to summarize the main evidence regarding FGIDs in childhood obesity, with a specific focus on the role of diet and its impact on the microbiota. Additionally, the review highlights potential common-ground solutions for preventing and managing both obesity and FGIDs. Methods A comprehensive PubMed search was conducted. Keywords used included terms related to children and adolescents, obesity, functional gastrointestinal disorders, and microbiota. Results The review emphasizes the importance of holistic, multidisciplinary approaches to managing symptoms. In addition to nutrition education, physical activity, and medical care, complementary strategies such as psychological interventions and personalized dietary modifications (e.g., low-FODMAP and fiber-enriched diets) are critical. Given the interplay between gut microbiota alterations, obesity, and FGIDs, microbiota modulation through probiotics, prebiotics, and integrative support shows significant promise. However, the variability in current evidence underlines the need for robust longitudinal studies to develop standardized protocols and maximize treatment efficacy. Conclusions Bridging gaps in knowledge and practice with an integrated, evidence-based framework could improve patient outcomes and deepen understanding of the complex relationship between metabolic and gastrointestinal health in children and adolescents.

Background: Possible therapeutic failure of pediatric obesity is influenced by the high dropout rate. The aim of this study was to evaluate the rate of dropout and the rate of weight loss over the 24 months of follow-up. Methods: The retrospective, single-center study, involved 489 patients followed for obesity in the period 2016–2020. Patients’ auxological data and blood samples were collected during the first (V1) and last visit (V2). Dropout was defined as a follow-up of less than 12 months and/or including less than one visit every 6 months. Patients were divided into two groups and compared: Group A of dropout (297 patients) and Group B of non-dropout (192 patients). Results: In the follow-up period, which had a mean duration of 24 months, the dropout rate was 60.7%. In Group A, the percentage of patients with BMI ≥ 3 SD at V2 was significantly higher than that in Group B. In Group B, the percentage of patients with pathological HOMA-IR and with fasting glucose >100 mg/dL was higher than group A. The probability of dropout was positively associated with pubertal stage and negatively with impaired fasting glycemia and pathological insulinemia at V1. Conclusion: The study demonstrated a high dropout rate during follow-up, mainly among adolescents and patients with no glucometabolic alterations.

Neurotrophins (NTs) are four small proteins produced by both neuronal and non-neuronal cells; they include nerve growth factor (NGF), brain-derived neurotrophic factor (BDNF), neurotrophin-3 (NT-3), and neurotrophin-4 (NT-4). NTs can exert their action through both genomic and non-genomic mechanisms by interacting with specific receptors. Initial studies on NTs have identified them only as functional molecules of the nervous system. However, recent research have shown that some tissues and organs (such as the lungs, skin, and skeletal and smooth muscle) as well as some structural cells can secrete and respond to NTs. In addition, NTs perform several roles in normal and pathological conditions at different anatomical sites, in both fetal and postnatal life. During pregnancy, NTs are produced by the mother, placenta, and fetus. They play a pivotal role in the pre-implantation process and in placental and embryonic development; they are also involved in the development of the brain and respiratory system. In the postnatal period, it appears that NTs are associated with some diseases, such as sudden infant death syndrome (SIDS), asthma, congenital central hypoventilation syndrome (CCHS), and bronchopulmonary dysplasia (BPD).