Identification and Analysis of a Novel NR0B1 Mutation in Late-Onset Adrenal Hypoplasia Congenita and Hypogonadism

OBJECTIVE: X-linked adrenal hypoplasia congenita (AHC) is a rare disorder characterized by primary adrenal insufficiency and hypogonadotropic hypogonadism (HHG) caused by mutations of the NR0B1/DAX1 gene. We aimed to search for the presence of any NR0B1/DAX1 gene mutations in a referred patient and...

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Detalhes bibliográficos
Publicado no:J Endocr Soc
Main Authors: Hasegawa, Yutaka, Takahashi, Yoshihiko, Kezuka, Yuichiro, Obara, Wataru, Kato, Yoichiro, Tamura, Shukuko, Onodera, Ken, Segawa, Toshie, Oda, Tomoyasu, Sato, Marino, Nata, Koji, Nonaka, Takamasa, Ishigaki, Yasushi
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
Assuntos:
Clinical Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7757432/
https://ncbi.nlm.nih.gov/pubmed/33381670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jendso/bvaa176
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