SUN-295 Prevalence of Self-Reported Endocrine Comorbidities in Hypothalamic Hamartoma Patients: Data from the Hope for Hypothalamic Hamartoma Survey
Bibliographic record
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.
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How this classification was reachedexpand
Full frame machine prediction
Teacher imitationNot calibrated prevalence, not ground truth. Human validation pending. The Gemma side is a direct model label for every work in the frame, read from the title-only record. The Codex side is a classifier learned from the 10,348 direct Codex labels and calibrated to design-weighted sample rates; fields without enough sample support carry no Codex call. Candidate is the union of the two sides; consensus is their intersection. These outputs are machine_predicted_unvalidated and are not human labels.
Distilled classifier scores by category (both heads)
| Category | Codex | Gemma |
|---|---|---|
| Metaresearch | 0.000 | 0.001 |
| Meta-epidemiology (narrow) | 0.000 | 0.000 |
| Meta-epidemiology (broad) | 0.000 | 0.000 |
| Bibliometrics | 0.001 | 0.001 |
| Science and technology studies | 0.000 | 0.000 |
| Scholarly communication | 0.000 | 0.000 |
| Open science | 0.000 | 0.000 |
| Research integrity | 0.000 | 0.000 |
| Insufficient payload (model declined to judge) | 0.002 | 0.000 |
Machine scores (provisional)
The two teacher heads of the student model, read on this work. A score orders the frame for review; it never asserts a category, and the validation status ships verbatim with every row.
Baseline scores from an immature model (maturity gate not passed, 7 training rounds). Scores rank; they never assert a category.
score_only:v0-immature-baseline · verbatim from the scoring run: score_only means the number may rank works, and no category label ships from itClassification
machine, unvalidatedMachine predicted; a candidate call from one source (direct Gemma or distilled Codex), not a consensus.
How this classification was reached, model by model and score by score, is at the end of the page under "How this classification was reached".