Rapidly Progressing Early Puberty in a Boy with Bilateral Basal Ganglia Germinoma and TREX1 Variant
| Author | Jihyun Ha | en |
| Author | Seonkyeong Rhie | en |
| Author | Kyu Young Chae | en |
| Author | Eun-Gyong Yoo | en |
| Author | Hye Jeong Choi | en |
| Author | Go Hun Seo | en |
| Author | Mo Kyung Jung | en |
| Orcid | Jihyun Ha [0000-0003-1804-6595] | en |
| Orcid | Seonkyeong Rhie [0000-0003-3371-8310] | en |
| Orcid | Kyu Young Chae [0000-0003-3243-5853] | en |
| Orcid | Eun-Gyong Yoo [0000-0002-6452-655X] | en |
| Orcid | Hye Jeong Choi [0000-0002-4103-769X] | en |
| Orcid | Go Hun Seo [0000-0003-1518-1791] | en |
| Orcid | Mo Kyung Jung [0000-0001-5904-4946] | en |
| Issued Date | 2020-10-04 | en |
| Abstract | 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 ( 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. | en |
| DOI | https://doi.org/10.5812/ijp.105079 | en |
| Keyword | Precocious Puberty | en |
| Keyword | Basal Ganglia | en |
| Keyword | Germinoma | en |
| Keyword | Three Prime Repair Exonuclease 1 (<i>TREX1</i>) | en |
| Publisher | Brieflands | en |
| Title | Rapidly Progressing Early Puberty in a Boy with Bilateral Basal Ganglia Germinoma and TREX1 Variant | en |
| Type | Case Report | en |