Open AccessRapidly Progressing Early Puberty in a Boy with Bilateral Basal Ganglia Germinoma and TREX1 Variant
Author(s) -
Jong-Chul Ha,
Seonkyeong Rhie,
Kyu Young Chae,
Eun-Gyong Yoo,
Hye Jeong Choi,
Go Hun Seo,
Mo Kyung Jung
Publication year - 2020
Publication title -
iranian journal of pediatrics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.168
H-Index - 25
eISSN - 2008-2150
pISSN - 2008-2142
DOI - 10.5812/ijp.105079
Subject(s) - precocious puberty , medicine , basal ganglia , basal (medicine) , germinoma , presentation (obstetrics) , endocrinology , pediatrics , surgery , hormone , central nervous system , radiation therapy , insulin
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 (