Long-term intranasal oxytocin therapy in patients with hypothalamic syndrome: case series and literature review

Context Hypothalamic syndrome (HS) is a rare endocrine disorder, resulting from Prader-Willi syndrome (PWS), craniopharyngiomas, ROHHAD syndrome and unknown etiologies. Oxytocin has been shown to facilitate weight loss in HS children and affect behavior. In this study, we aimed to observe the efficacy and safety of oxytocin treatment in HS patients, including PWS. Case description We described four PWS patients and nine non-PWS patients who received oxytocin treatment (16–24 IU/day) for 6 months, two patients with ROHHAD syndrome were followed-up for one year. Overall, patients exhibited reductions in BMI z-score ([4.36 (1.16, 13.18)]vs [4.20 ± 2.62]), Hyperphagia Questionnaire for Clinical Trials (HQ-CT) ( [16.00 ± 8.59] vs [11.3 ± 6.31]), PWS Behavioral Questionnaire (PWSBQ) ([56.75±27.24] vs [44.25±23.89]) and the Epworth Sleepiness Scale (ESS) ([14.63±42.55] vs [12.87±5.77]) , but some reversed at six months. Autonomic dysregulation in non-PWS patients were improved at three months, and remained stable at six months. No severe advance effects were observed. Conclusion Our study demonstrated that intranasal oxytocin administration improved appetite, behavioral symptoms, and sleep quality in the majority of patients. Notably, autonomic dysregulation was also alleviated in non-PWS cases, suggesting its potential as an alternative therapy for specific HS subtypes. However, further validation through larger-scale studies and extended follow-up is warranted to confirm its efficacy.