Objective Hypothalamic syndrome (HS) in childhood is a rare condition. Its epidemiology is not well known because incidence and prevalence are related to very rare underlying diseases. In addition, different criteria for the syndrome are used across studies. Recognizing HS may be difficult, due to its rareness and variety of symptoms. Having diagnostic criteria for signs and symptoms of hypothalamic dysfunction may aid in early recognition and diagnosis, in the reporting and understanding of its etiology, in predicting its course and its management. We aimed to define diagnostic criteria for hypothalamic dysfunction and a score for the presence of HS in childhood. Methods Diagnostic criteria for hypothalamic dysfunction were developed and subdivided into hyperphagia, hypophagia, body mass index, behavioral problems, sleep disorders, temperature regulation disorders, pituitary dysfunction, radiological hypothalamic assessment and presence/suspicion of a hypothalamic genetic syndrome. Subsequently, the scoring system was tested in a retrospective cohort of 120 patients at risk for hypothalamic dysfunction. Results A score for presence of HS was developed. Using this new hypothalamic score, in total 52.5% were scored as having HS. Of these patients, 76.7% were diagnosed with pituitary dysfunction, 32.5% with hyperphagia, 40% with sleep disorders and 14.2% with temperature dysregulation. For several criteria, clinical data was missing in more than 50% of cases. Conclusions The here proposed diagnostic criteria and score for presence of HS may be used for care purposes and to aid in early recognition. Also it will be useful for research or registration purposes.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.