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

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

Abstract 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)...

Full description

Bibliographic Details
Main Authors: Michelle Cerutti C. Vargas, Felipe Scipião Moura, Cecília P. Elias, Sara R. Carvalho, Nelson Rassi, Ilda S. Kunii, Magnus R. Dias-da-Silva, Flavia Amanda Costa-Barbosa
Format: Article
Language:English
Published: BMC 2020-02-01
Series:BMC Endocrine Disorders
Subjects:
Adrenal hypoplasia congenita (AHC)
Adrenal insufficiency
DAX-1 mutation
Infertility
Online Access:https://doi.org/10.1186/s12902-020-0500-2

Internet

https://doi.org/10.1186/s12902-020-0500-2

Similar Items