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

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.