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Yolk sac tumor and dysgerminoma in the left gonad following gonadoblastoma in the right gonad in a 46,XY DSD with a novel SRY missense mutation: a case report

BACKGROUND: Approximately 10–15% of 46,XY disorders of sex development (DSDs) have an SRY mutation residing in the high mobility group (HMG) domain. Here, we present a case of 46,XY DSD caused by a novel missense mutation in the HMG region of SRY rapidly progressing to germ cell tumors (GCTs). CASE...

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Detalles Bibliográficos
Autores principales: Xie, Chengxiu, Cai, Jian, Li, Nan, Hua, Ping, Yang, Zexuan, Yu, Xia, Tang, Dongmei, Hu, Yu, Liu, Qingsong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9872390/
https://www.ncbi.nlm.nih.gov/pubmed/36694125
http://dx.doi.org/10.1186/s12884-022-05317-3