Gonadotrophin-independent precocious puberty in an eight-year-old boy due to ectopic human chorionic gonadotrophin from the central nervous system.

We present the case of an eight-year-old boy with advanced isosexual precocity associated with an elevated serum total-beta human chorionic gonadotrophin (HCG) and markedly elevated serum total testosterone. Radiological investigation discovered a lesion in the left thalamus and no peripheral tumour. Serum:cerebrospinal fluid (CSF) HCG ratio was approximately 1:1, consistent with a central nervous system source of HCG, with thalamic germinoma strongly suspected. Consent was not obtained for biopsy of the lesion. The patient underwent multiagent chemotherapy with return of serum HCG to normal. We discuss mechanisms of HCG-mediated sexual precocity in both boys and girls and the importance of CSF HCG.