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...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: Tantawy, Sally, Lin, Lin, Akkurt, Ilker, Borck, Guntram, Klingmüller, Dietrich, Hauffa, Berthold P, Krude, Heiko, Biebermann, Heike, Achermann, John C, Köhler, Birgit
Formato: Artigo
Idioma:Inglês
Publicado em: BioScientifica 2012
Assuntos:
Clinical Study
Acesso em linha: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
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados