Rapidly Progressing Early Puberty in a Boy with Bilateral Basal Ganglia Germinoma and TREX1 Variant

• DOI: 10.5812/ijp.105079
• Publication Date: 2020-10-04T09:57:46Z
• Authors: Jihyun Ha; Seonkyeong Rhie; Kyu Young Chae; Eun-Gyong Yoo; Hye Jeong Choi; Go Hun Seo; Mo Kyung Jung
• Keywords: Basal (medicine); Germinoma; Presentation (obstetrics)

Introduction: Organic lesions, including brain tumors, should be suspected in boys with precocious puberty. However, it is not usually children early Case Presentation: Here we present an extremely rare case of rapidly progressing puberty basal ganglia germinoma coupled three-prime repair exonuclease 1 (TREX1) variant. This was a 10-year-old-boy borderline mental retardation and Physical examination revealed 10 mL testes (Tanner stage 3 for genital development), his bone age that 12-year old boy. Laboratory findings showed abnormally elevated serum β-human chorionic gonadotropin (23.0 mIU/mL; reference, 0-10 mIU/mL), suppressed LH level (