ESPE Abstracts

Introduction: Endocrinopathies are common features of intracranial germ cell tumours (IC-GCTs), either as presenting symptoms caused by tumour itself or as side effects of treatments.

Aims: We examined the development of endocrine dysfunctions in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow up.

Methods: We collected clinical, radiological, histopathological and hormonal data in 55 patients. Diabetes insipidus (DI), growth hormone deficiency (GHD), hypothyroidism, adrenal insufficiency (AI), precocious puberty (PP), hypogonadotrophichypogonadism (HH), obesity and hyperprolactinemia were diagnosed clinically and confirmed biochemically. The prevalence of endocrine sequelae was compared to survival rates.

Results: 55 patients (67.3% males) diagnosed with IC-GCT at a median age of 12 (range 1–17.9) years and with a median follow-up of 78.9 months (range 0.5-249.9) from diagnosis were included. 63.6% had germinomas, 14.5% teratomas, 12.7% mixed GCT and 3.6% yolk sac tumour. 10.9% of cases were metastatic at diagnosis. IC-GCTs were suprasellar (41.8%), pineal (36.4%), bifocal (12.7%). At tumour diagnosis, 28/55 patients (50.9%) displayed endocrine dysfunctions: among them, 57.1% were affected by DI, 57.1% by central AI, 50% by central hypothyroidism, 28.5% by GHD, 10.7% by HH, 10.7% by gonadotrophin-independent PP. These patients had predominantly germinoma (74.3%) or suprasellar IC-GCT (63.9%). Patients underwent biopsy (46/55), surgery (8/55), chemotherapy (42/55) and radiotherapy (50/55). At the last follow up, endocrinopathies were diagnosed in 37/55 patients (67.3%): among them, 30/37 (81.1%) developed AI, 30/37 (81.1%) GHD, (78.4%) DI, (73.0%) hypothyroidism, (62.2%) HH. None of the pre-treatment endocrinopathies resolved. The new endocrine disorders arose at a median of 15.15 months (range 1.3-204.2 months) after the end of treatment. No cases of hypergonadotrophic hypogonadism due to chemotherapy-related gonadal toxicity were reported in our cohort. Overall survival (OS) rate was 80%. No statistical difference in OS was found between patients with and without endocrine sequelae (P = 0.37).

Conclusion: Our study confirmed that endocrine disorders were frequent in patients with IC-GCTs at diagnosis. Additional endocrinopathies can occur decades after completion of treatments and require long term monitoring. Although survival rate was not affected by the presence of endocrinopathies in our cohort, close lifelong surveillance is mandatory to provide the best care for these patients.