SUN-295 Prevalence of Self-Reported Endocrine Comorbidities in Hypothalamic Hamartoma Patients: Data from the Hope for Hypothalamic Hamartoma Survey

Abstract

Background: Hypothalamic hamartoma (HH) are rare, congenital, benign mass lesions in the ventral hypothalamus that can be asymptomatic or associated with gelastic seizures and treatment-resistant epilepsy. Central precocious puberty (CPP) is the main endocrine comorbidity (30-80% of cases). Other endocrine comorbidities have also been described that tends to occur after surgery. However, previous studies reporting its prevalence have shown inconsistent results because of the rarity of the disease, variability of follow-up, and lack of long-term endocrinologic assessment. Aims: To evaluate the self-reported prevalence of demographics and endocrine comorbidities in a large cohort of HH patients. Methods: Hope for HH is a volunteer-based nonprofit organization founded by parents of children with HH. This international survey was initiated, translated into multiple languages and distributed by mail and electronically to families of children with HH in the Hope for HH database after concerns were raised that there have been multiple ongoing comorbidities (including endocrine) that continues to be under-recognized. Results: In total, 257 HH patients (132M/125F, mainly between ages 4-35 years and from the US, Russia, UK, Australia, Canada, Germany and Kazakhstan) participated in the survey. Some patients had a secondary diagnosis of Pallister-Hall (7.0%), Lennox-Gastaut (1.95%), Prader-Willi (0.8%) and West (0.8%) syndromes. The majority of patients (n=163, 63.4%) underwent surgery (MRI-guided stereotactic laser ablation [n=61, 37.4%], endoscopic resection [n=31, 19.0%], transcallosal resection [n=30, 18.4%], stereotactic radiofrequency ablation [n=27, 16.6%], orbitozygomatic resection [n=9, 5.5%]) or gamma knife radiosurgery (n=28, 17.2%). After surgery and/or radiation, ~50% of patients were seizure-free but reported unchanged, poor or very poor quality of life (QoL), with fatigue (56.4%), heat intolerance (46.3%) and adipsia (21.8%) being the more common symptoms. Reported endocrine comorbidities include CPP (42%), hypothalamic obesity (35.0%), abnormal body composition (31.5%), central hypothyroidism (19.8%), osteopenia/osteoporosis with low BMD (12.8%), diabetes insipidus (11.3%), GH deficiency (10.5%), central adrenal insufficiency (10.5%), central hypogonadism (5.1%), and delayed puberty (4.7%), and 26.5% of patients were not seeing an endocrinologist. Conclusion: In contrast to previous studies reporting low prevalence, mild and transient endocrine comorbidities in HH patients (2,3), this survey suggests a greater prevalence of other non-CPP endocrine comorbidities with a substantial number of patients reporting unchanged or impaired QoL. Thus, long-term endocrinologic follow-up with the involvement of a multidiscliplinary team is essential to diagnose early and treat these comorbidities in these patients.