B.K.G.S.S Dharmasiri¹, Udari Ruwanpathirana¹, Pavithra Madhushani¹, Hiruni Udara¹, Thilina Munasinghe², Dimarsha De Silva¹, Hasanka Peris¹, Mahendra Somathilaka³
1- National Hospital Galle, Sri Lanka
2- Department of Paediatrics, Faculty of Medicine, University of Ruhuna, Sri Lanka
3- Apeksha Hospital, Sri Lanka
Abstract Body
Intracranial germ cell tumours arise mainly in suprasellar regions and most common in Asian population. We report a case of suprasellar germinoma with unusual biochemical presentation. An 11-year-old girl presented with a two-month history of progressive headache and visual impairment, leading her to bump into objects. Her past medical history was unremarkable, and her height was below the 3rd centile. She was prepubertal with Tanner stage I breast and pubic hair development. Systemic examination revealed no abnormalities. Visual field assessment showed bilateral inferior and temporal defects. MRI demonstrated a large suprasellar lesion extending into the pituitary fossa, suggestive of a pituitary macroadenoma (3.6 × 3.5 × 3.2 cm), with invasion of the left cavernous sinus and compression of the optic chiasm. Renal and liver function tests and full blood counts were normal. Endocrine assessment revealed a low early-morning cortisol level on two occasions, prompting hydrocortisone replacement. Thyroid function tests showed low free T4 with a normal thyroid-stimulating hormone level, and thyroxine was initiated 48 hours after corticosteroid replacement. Gonadotrophins were in the prepubertal range. Prolactin was markedly elevated, while alpha-fetoprotein was normal. HCG was significantly raised, supporting the diagnosis of a germ cell tumour compressing the pituitary stalk and explaining the hyperprolactinaemia.The tumour showed an excellent response to chemotherapy . Hormonal profiling is crucial in paediatric suprasellar tumours to inform diagnosis, management, and prognosis. While biopsy remains the standard for confirmation. Elevated tumour markers in secreting germinomas and NGGCT can support a noninvasive diagnosis.