Endocrine manifestations of paediatric intracranial germ cell tumours: from diagnosis to long-term follow-up

• Published in: Endocrine Vol. 77; no. 3; pp. 546 - 555
• Main Authors: Partenope, Cristina, Pozzobon, Gabriella, Weber, Giovanna, Arya, Ved Bhushan, Carceller, Fernando, Albanese, Assunta
• Format: Journal Article
• Language: English
• Published: New York Springer US 01.09.2022; Springer Nature B.V
• Subjects: Diabetes; Diabetes insipidus; Diagnosis; Endocrine disorders; Endocrinology; Growth hormones; Humanities and Social Sciences; Hypogonadism; Hypothyroidism; Internal Medicine; Medicine; Medicine & Public Health; multidisciplinary; Original Article; Patients; Pediatrics; Puberty; Science; Tumors; Intracranial germ cell tumour; Long-term follow-up; Endocrine manifestations; Children; Diabetes insipidus; Precocious puberty
• DOI: 10.1007/s12020-022-03121-9
• ISSN: 1559-0100; 1355-008X

Purpose We examined endocrine manifestations in a cohort of paediatric patients with IC-GCTs at diagnosis and during follow-up, integrating clinical, radiological, histopathological and laboratory data. Methods Diabetes insipidus (DI), growth hormone deficiency (GHD), hypothyroidism, adrenal insufficiency, precocious puberty (PP)/hypogonadism were diagnosed clinically and biochemically. The prevalence of endocrine manifestations was compared to survival rates. Results Our population included 55 children (37 males, 18 females) diagnosed with IC-GCT with a median follow-up of 78.9 months from diagnosis (range 0.5–249.9). At tumour diagnosis, 50.9% patients displayed endocrinopathies: among them, 85.7% were affected by DI, 57.1% central adrenal insufficiency, 50% central hypothyroidism, 28.5% GHD, 10.7% hypogonadotrophic hypogonadism, 10.7% PP. These patients presented predominantly with suprasellar germinoma. If not diagnosed previously, endocrine disorders arose 15.15 months (1.3–404.2) after end of treatment (EOT) in 16.4% patients. At least one endocrinopathy was identified in 67.3% of subjects at last follow-up visit, especially GHD and adrenal insufficiency. DI, hypothyroidism, and adrenal insufficiency occurred earlier than other abnormalities and frequently preceded tumour diagnosis. Subjects with and without endocrine manifestations who survived beyond 12 months after EOT did not show significant difference in overall survival and progression-free survival ( p  = 0.28 and p  = 0.88, respectively). Conclusion Endocrinopathies were common presenting symptoms in our population. If present at diagnosis, they often persisted hence after. The spectrum of endocrinopathies expanded during follow-up up to 33.7 years after EOT. Although they did not seem to affect survival rate in our cohort, close lifelong surveillance is mandatory to provide the best care for these patients.