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Longitudinal Evaluation of the Hypothalamic-Pituitary-Testicular Function in 8 Boys with Adrenal Hypoplasia Congenita (AHC) Due to NR0B1 Mutations

BACKGROUND: Boys carrying mutations in the NR0B1 gene develop adrenal hypoplasia congenita (AHC) and impaired sexual development due to the combination of hypogonadotropic hypogonadism (HH) and primary defects in spermatogenesis. METHODS: We analysed the evolution of hypothalamic-pituitary-testicula...

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Detalhes bibliográficos
Main Authors: Galeotti, Caroline, Lahlou, Zineb, Goullon, Domitille, Sarda-Thibault, Hélène, Cahen-Varsaux, Juliette, Bignon-Topalovic, Joëlle, Bashamboo, Anu, McElreavey, Ken, Brauner, Raja
Formato: Artigo
Idioma:Inglês
Publicado em: Public Library of Science 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3384599/
https://ncbi.nlm.nih.gov/pubmed/22761912
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0039828
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