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Steroidogenic factor-1 (SF-1) gene mutation as a frequent cause of primary amenorrhea in 46,XY female adolescents with low testosterone concentration

BACKGROUND: Primary amenorrhea due to 46,XY disorders of sex differentiation (DSD) is a frequent reason for consultation in endocrine and gynecology clinics. Among the genetic causes of low-testosterone primary amenorrhea due to 46,XY DSD, SRY gene is reported to be frequently involved, but other ge...

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Detalles Bibliográficos
Autores principales: Philibert, Pascal, Leprieur, Elodie, Zenaty, Delphine, Thibaud, Elisabeth, Polak, Michel, Frances, Anne-Marie, Lespinasse, James, Raingeard, Isabelle, Servant, Nadège, Audran, Françoise, Paris, Françoise, Sultan, Charles
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2848664/
https://www.ncbi.nlm.nih.gov/pubmed/20302644
http://dx.doi.org/10.1186/1477-7827-8-28