Oxytocin Deficiency in Childhood and Adolescence: Clinical Features, Diagnostic Challenges and Therapeutic...

Oxytocin (OXT), traditionally linked to reproductive physiology, is now recognized as an important regulator of metabolic, skeletal, and socio-emotional processes. In children and adolescents, oxytocin deficiency (OXT-D) represents a significant but frequently underdiagnosed neuroendocrine disturbance, particularly in hypothalamic-pituitary disorders and syndromic conditions such as Prader-Willi and Schaaf-Yang. Experimental and clinical evidence suggests that OXT-D may contribute to altered appetite regulation, reduced energy expenditure, impaired bone health, and socio-emotional vulnerability, even when other pituitary axes are adequately replaced. Diagnostic evaluation remains challenging due to OXT's short half-life, pulsatile secretion, and the limited reliability of current assay platforms, which restrict the clinical utility of peripheral measurements or dynamic testing in pediatric practice. Intranasal OXT-the most extensively studied therapeutic approach-shows good short-term tolerability and context-dependent behavioral benefits, though long-term efficacy and safety remain insufficiently defined. Advancing the field will require standardized diagnostic criteria, more reliable biomarkers, and precision-medicine strategies accounting for developmental stage and genetic background. This review summarizes current knowledge on pediatric OXT-D and highlights priorities for future translational and clinical research.