ESPE2022 Poster Category 1 Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology (56 abstracts)
Background: In children with extracranial germ cell tumors (GCTs), brain metastases are rare and are classified as “poor prognosis”. The longest interval to brain metastases was 36 months after diagnosis in children, however, it is still less understood.
Methods: We report a boy who had suprasella tumor recurrence 4 years after the first diagnosis of extracranial GCTs (thymus).
Results: A 6-year-6month old boy came to hospital due to penis enlargement and gynecomastia for 2 months. Laboratory data showed GnRH independent precocious puberty. Serum levels of β-hCG ranged from 56-193mIU/ml, while serum AFP levels were normal. hCG in CSF were normal (<1.2mIU/ml). MRI scans showed the tumor in the thymus (8mm*8mm). Sellar and cranial MRI found no abnormalities, except a cisterna magna arachnoid cyst. Pituitary functions were found normal. The boy accepted surgery therapy and the diagnosis of teratoma combine with malignant germ cell tumor was confirmed by pathology. After surgery, chemotherapy and radiotherapy was performed routinely. The serum levels of β-hCG decreased rapidly in the second day after surgery and could not be detected there after. Three years later, the boy presented multiple pituitary hormone deficiency (growth hormone deficiency, central hypothyroidism, central adrenal insufficiency). Sellar MRI showed empty sella and disappearance of posterior pituitary gland, but the satlk was normal. The levels of serum and CSF β-hCG were normal. Hormone replacement therapy (HRT) has performed since then, and serum as well as CSF β-hCG was followed up every 3 months and remained normal. Four years after the first diagnosis (10 year and 9 month old), the boy again had penis enlargement and erection, and laboratory data showed elevated levels of serum β-hCG (181.4mIU/ml) and CSF β-hCG (14.1mIU/ml). MRI scans showed thickened pituitary stalk and suggested the suprasella region recurrence, but no other metastases were found (mediastinum, lungs, liver, pelvis, and spine were normal). Routine Chemotherapy+ radiotherapy was performed again and serum and CSF β-hCG levels returned normal very fast. After the relapse, the boy has been follow-up for more than 7 years. No second recurrence occur, but panhypopituitarism persistent and lifelong HRT needed.
Conclusion: The detection of serum levels of hCG combine with GSF hCG levels may be significant for the determination of the tumor locations and evaluation of tumor recurrence. The interval of relapse in children with extracranial GCTs can be 4 years, thus long term followed up is needed, and the prognosis is satisfied in our case.
15 Sep 2022 - 17 Sep 2022