Endocrine Evaluation and Homeostatic Model Assessment in Patients with Cornelia de Lange Syndrome.

Objective: The aim of this study was to expand knowledge about endocrine disorders in individuals with Cornelia de Lange syndrome (CdLS), a rare developmental genetic disorder with anomalies in multiple organs and systems. Methods: Hormone levels, clinical scores, anthropometric measurements, and molecular analysis were assessed in 24 individuals with CdLS. Results: Hyperprolactinemia was the most common endocrine disorder. Three patients showed subclinical hypothyroidism. In the gonadotropic axis, mildly delayed puberty was observed, as well as genital anomalies, such as cryptorchidism. Despite short stature, levels of insulin-like growth factor 1 and insulin-like growth factor-binding protein 3 were normal, on average. Three prepubertal individuals without risk factors had higher than normal values for the homeostatic model assessment of insulin resistance (HOMA-IR) and for insulinemia, suggesting insulin resistance. Furthermore, two adults had elevated BMIs associated with HOMA-IR values over the cut-off values. Conclusion: CdLS can lead to dysregulation of the endocrine system, particularly in patients with high HOMA-IR values and insulinemia who are at risk of insulin resistance. Therefore, clinical follow-ups with hormonal assessments are proposed for individuals with CdLS.

Assessment of Active Video Games' Energy Expenditure in Children with Overweight and Obesity and Differences by Gender.

(1) Background: Childhood obesity has become a main global health problem and active video games (AVG) could be used to increase energy expenditure. The aim of this study was to investigate the energy expenditure during an AVG intervention combined with exercise, differentiating by gender. (2) Methods: A total of 45 children with overweight or obesity (19 girls) performed an AVG intervention combined with exercise. The AVG used were the Xbox Kinect, Nintendo Wii, dance mats, BKOOL cycling simulator, and Nintendo Switch. The energy expenditure was estimated from the heart rate recorded during the sessions and the data from the individual maximal tests. (3) Results: The mean energy expenditure was 315.1 kilocalories in a one-hour session. Participants spent the most energy on BKOOL, followed by Ring Fit Adventures, Dance Mats, Xbox Kinect, and the Nintendo Wii, with significant differences between BKOOL and the Nintendo Wii. Significant differences between boys and girls were found, but were partially due to the difference in weight, VO2max, and fat-free mass. (4) Conclusions: The energy expenditure with AVG combined with multi-component exercise was 5.68 kcal/min in boys and 4.66 kcal/min in girls with overweight and obesity. AVG could be an effective strategy to increase energy expenditure in children and adolescents with overweight and obesity.