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Testosterone production during puberty in two 46,XY patients with disorders of sex development and novel NR5A1 (SF-1) mutations

BACKGROUND: Steroidogenic factor 1 (SF-1, NR5A1) is a key transcriptional regulator of many genes involved in the hypothalamic–pituitary–gonadal axis and mutations in NR5A1 can result in 46,XY disorders of sex development (DSD). Patients with this condition typically present with ambiguous genitalia...

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Detalles Bibliográficos
Autores principales:	Tantawy, Sally, Lin, Lin, Akkurt, Ilker, Borck, Guntram, Klingmüller, Dietrich, Hauffa, Berthold P, Krude, Heiko, Biebermann, Heike, Achermann, John C, Köhler, Birgit
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioScientifica 2012
Materias:	Clinical Study
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3381348/ https://www.ncbi.nlm.nih.gov/pubmed/22474171 http://dx.doi.org/10.1530/EJE-11-0944

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