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

Jihyun Ha | Zendy; Seonkyeong Rhie | Zendy; Kyu Young Chae | Zendy; Eun-Gyong Yoo | Zendy; Hye Jeong Choi | Zendy; Go Hun Seo | Zendy; Mo Kyung Jung | Zendy

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

Author(s) -

Jihyun 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 (

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