rapidly progressing early puberty in a boy with bilateral basal ganglia germinoma and trex1 variant

Introduction: organic lesions, including brain tumors, should be suspected in boys with precocious puberty. however, it is not usually suspected in children with early puberty. case presentation: here we present an extremely rare case of rapidly progressing early puberty with basal ganglia germinoma coupled with three-prime repair exonuclease 1 (trex1) variant. this was a 10-year-old-boy with borderline mental retardation and rapidly progressing puberty. physical examination revealed 10 ml testes (tanner stage 3 for genital development), and his bone age was that of a 12-year old boy. laboratory findings showed abnormally elevated serum β-human chorionic gonadotropin (23.0 miu/ml; reference, 0-10 miu/ml), and suppressed lh level (<0.07 miu/ml) with high testosterone (4.61 ng/ml; reference, 0.1-0.32 ng/ml). magnetic resonance imaging revealed irregular enhancement in bilateral basal ganglia, and stereotactic biopsy confirmed germinoma. whole exome sequencing was performed, and the pathogenic variant of trex1 (trex1:c.g832a) was revealed. conclusions: this is the first case report of rapidly progressing early puberty caused by germinoma of bilateral basal ganglia associated with pathogenic variant of trex1.