Endocrine Abstracts

JOINT3688

Introduction: Germinomas comprise 60 to 65 percent of all pediatric intracranial germ-cell tumors (GCTs). The two most frequent sites are the pineal gland and the suprasellar regions. In 5 to 15 percent of cases, patients present with tumors at both pineal and suprasellar locations, referred to as bifocal disease. Pineal tumors typically cause obstructive hydrocephalus, presenting with signs of increased intracranial pressure. Neuro-ophthalmologic abnormalities are present in half of the cases. Suprasellar GCTs most commonly present with hypothalamic/pituitary dysfunction.

Methods: Case presentation:A 13-year-old girl presented with diplopia and left eye esotropia accompanied by ptosis in the previous 20 hours. Past medical history was unremarkable until two years ago when she started suffering early morning vomiting. They reported lethargy, fatigue, polyuria, polydipsia, loss of appetite and weight loss of 7 kilograms for the previous 8 months. Additionally, her mother has noticed regression of breast tissue and pubic hair growth. The patient’s family history is unremarkable.

Results: The results from her first clinical assessment are height 1.57m, weight 37kg, pulse 113/min, DBP/SBP 96/60mmHg, temperature 36⁰C, GCS 15/15, meningitis signs negative, cerebellar exam normal, left eye esotropia with ptosis, anisocoria, central facial palsy. Tanner stage: Breast II, pubic hair II-III. Fundoscopy revealed bilateral optical nerve edema. An emergency CT-scan revealed hydrocephalus., while the MRI scan revealed hydrocephalus and two space-occupying lesions, one in the region of the pineal gland and one in the pituitary stalk. Laboratory investigations showed increased levels of Na: 151mmol/l, dilute urine SG:1006, TSH: 0.995μIU/ml, fT4: 0.68ng/dl, (consistent with central hypothyroidism), undetectable gonadotropins, FSH:<0.3 mIU/ml, LH: <0.3mIU/ml, increased PRL: 1240 μIU/ml, very low E2: 5.21pg/ml, very low IGF1: 31.8 ng/ml, βHCG 7.02mU/ml, βHCG CSF: 2.3ng/ml, aFP 1,4ng/ml. Hormonal levels were consistent with the diagnosis of panhypopituitarism including arginine-vasopressin deficiency. Thus, treatment with hydrocortisone, desmopressin and levothyroxine was initiated. A ventriculoperitoneal shunt was implanted According to MRI findings and the following criteria: presence of diabetes insipidus, bifocal disease, positive CSF bHCG, the diagnosis of bifocal germinoma was established and chemotherapy treatment was initiated.

Conclusions: Pubertal arrest requires immediate attention and investigation for possible intracranial pathology (germinoma, craniopharyngioma, pilocytic astrocytoma) or histiocytosis. The suspicion is heightened when it is accompanied by headaches and polyuria, polydipsia