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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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Autori principali: Tantawy, Sally, Lin, Lin, Akkurt, Ilker, Borck, Guntram, Klingmüller, Dietrich, Hauffa, Berthold P, Krude, Heiko, Biebermann, Heike, Achermann, John C, Köhler, Birgit
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioScientifica 2012
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3381348/
https://ncbi.nlm.nih.gov/pubmed/22474171
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-11-0944
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