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)...

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Prif Awduron:	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
Fformat:	Artigo
Iaith:	Inglês
Cyhoeddwyd:	BMC 2020-02-01
Cyfres:	BMC Endocrine Disorders
Pynciau:	Adrenal hypoplasia congenita (AHC) Adrenal insufficiency DAX-1 mutation Infertility
Mynediad Ar-lein:	https://doi.org/10.1186/s12902-020-0500-2
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