Endocrine Abstracts

JOINT362

Objective: Compared to the Western population, incidence of intracranial germ cell tumour (IC-GCT) is significantly higher among Chinese children. These children often present with neurological symptoms or endocrine dysfunction. Endocrine deficits may present with insidious symptoms that precede neurological findings for years, often leading to delay in diagnosis especially among primary care or general pediatricians. This study reviewed clinical features of a cohort of Chinese children with IC-GCT, focusing on initial endocrine manifestations, time lag in diagnosis and long-term disease burden.

Methods: This is a retrospective, cohort study. We identified children with IC-GCT diagnosed ≤ 18 years managed at the Hong Kong Children’s Hospital from 2008-2023. Demographics, presentation and tumour-related outcomes were analyzed.

Results: 74 children (73% males) diagnosed with IC-GCT at median age of 12.6 years (IQR 10.5-16.5) with median follow-up of 4.4 years (IQR 2.2-11.1) were included. The majority (63.5%) had germinoma and 17.6% were metastatic at diagnosis. IC-GCTs were suprasellar (40.5%), pineal (18.9%), bifocal (17.6%), or at the basal ganglia/thalamus (16.2%). Endocrine deficits were already present in 68.9% of children at diagnosis (diabetes insipidus 59.5%, adrenal insufficiency 55.4%, central hypothyroidism 52.7%, growth hormone deficiency 43.2%, hypogonadotropic hypogonadism 29.7%, precocious puberty 10.8%), and all children with suprasellar tumour exhibited at least one endocrinopathy. Interval between onset of endocrine symptoms and definitive diagnosis of IC-GCT ranged between 0.9 to 71.8 months (median 11.9 months) with more than half (70.3%) being symptomatic for over 6 months. Those with unfavourable oncological outcomes (distant metastasis/relapse/death) had longer symptom interval, though the difference was not statistically significant. At last follow-up, 68.9% required at least one medication for endocrine sequelae. Additionally, there was significant rise in BMI from 17.8 kg/m² at diagnosis to 21.6 kg/m² at last follow-up, with more of those with endocrinopathies showing ≥ 10% increase in BMI. Low bone mineral density was also common, with 63.2 % having either TBLH/lS z score ≶ -2 on DXA measurements.

Conclusion: Substantial proportion of children with IC-GCT experienced delay in time to diagnosis, which was associated with worse disease outcome. This highlighted the importance of raising both patient and clinician awareness, as well as the need for early neuroimaging in children displaying pituitary hormone deficiencies. For survivors, attention has to be drawn to weight status and bone health in order to optimize long-term well-being.