Endocrine Abstracts

Introduction: Hypothalamic dysfunction (HD) during childhood can occur due to (treatment of) a suprasellar brain tumor. HD may not only result in pituitary dysfunction, but also in severe hyperphagia, decreased energy expenditure, diabetes insipidus with adipsia, disturbance of circadian rhythm, temperature dysregulation and behavioral problems. Currently there is no effective treatment for HD while HD has major impact on quality of life. To provide optimal care and to design the most relevant studies, aiming to improve quality of life, it is essential to understand the patients’ needs . For this reason, an online questionnaire was conducted, to address the most relevant problems and the unmet needs of patients with HD as well as their perspective on future research and clinical approaches.

Methods: Through the different patient advocacy groups, SIOPe craniopharyngioma working group and the ENDO-ERN platform, a world-wide online survey was disseminated to patients with childhood onset HD following treatment for a brain tumor (April 2022 – October 2022).

Results: In total, 361 patients responded to the survey. Most were above 18 years old when filling out the questionnaire (63.7%), and 71.7% were diagnosed more than six years ago. The majority had been diagnosed with a craniopharyngioma (78%). In total 63% had panhypopituitarism. Obesity and fatigue were considered the most important health problems for patients (in respectively 48.8% and 46.5%). Patients indicated to want more support with food choices and diet, exercise and psychosocial assistance. In total 18% of patients indicated that there is a lack of information by their doctors on the disease and 14% reported a need for more psychological support. According to the patients, there is a need for more centralized care. Patient ideas for future research included (1) alternative ways for hormone administration (without injection, hydrocortisone by pump), (2) new treatments for hypothalamic obesity, (3) ways to improve early diagnosis of the suprasellar tumor.

Conclusion: According to the patient perspective, the care of patients with acquired HD should be more centralized and from an early stage onwards there should be more focus on quality of life and late consequences. Research should focus on fatigue, hypothalamic obesity and early diagnostics. Ideally, care should be delivered by doctors who have a holistic view of the patient in a multidisciplinary expert team where information is shared with patients but also between subspecialists.