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Article

[A Novel Pathogenic variant in NR0B1 gene associated with Congenital Adrenal Hypoplasia].

Andes pediatrica : revista Chilena de pediatria - 1 Aug 2022

García-Medina Judith S, Sarmiento-Ramón María Paula, Lopera-Cañaveral María V, Zuluaga-Espinosa Nora A, Forero-Torres Adriana C, Toro-Ramos Martín, Pineda-Trujillo Nicolás

Abstract excerpt

X-linked adrenal hypoplasia congenita is a rare cause of primary adrenal insufficiency. Mutations in the NR0B1 gene cause a loss of function in the DAX1 receptor, which activates genes involved in the development and function of the hypothalamic-pituitary-gonadal axis. Objective: To describe a case of adrenal hypoplasia congenita secondary to a mutation in the NR0B1 gene and identified the differential diagnoses...

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Identifiers

PMID: 37906859
DOI: 10.32641/andespediatr.v93i4.4019

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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