Spontaneous fertility and variable spectrum of reproductive phenotype in a family with adult-onset X-linked adrenal insufficiency harboring a novel DAX-1/NR0B1 mutation

BACKGROUND: Adrenal hypoplasia congenita (AHC) is an X-linked disorder that affects the adrenal cortex and hypothalamus-pituitary-gonadal axis (HPG), leading to primary adrenocortical insufficiency (PAI) and hypogonadotropic hypogonadism. AHC is caused by a mutation in the DAX-1 gene (NR0B1). More c...

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Detalles Bibliográficos
Autores principales: Vargas, Michelle Cerutti C., Moura, Felipe Scipião, Elias, Cecília P., Carvalho, Sara R., Rassi, Nelson, Kunii, Ilda S., Dias-da-Silva, Magnus R., Costa-Barbosa, Flavia Amanda
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7006140/
https://www.ncbi.nlm.nih.gov/pubmed/32028936
http://dx.doi.org/10.1186/s12902-020-0500-2

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