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Article

X-linked congenital adrenal hypoplasia: Report of long clinical follow-up and description of a new complex variant in the NR0B1 gene.

American journal of medical genetics. Part A - 1 Jun 2024

Esquiaveto-Aun Adriana Mangue, de Mello Maricilda Palandi, Guaragna Mara Sanches, da Silva Lopes Vera Lúcia Gil, Francese-Santos Ana Paula, Dos Santos Cruz Piveta Cristiane, Mazolla Taís Nitsh, de Lemos-Marini Sofia Helena Valente, Guerra-Junior Gil

Abstract excerpt

Adrenal hypoplasia congenita, attributed to NR0B1 pathogenic variants, accounts for more than 50% of the incidence of primary adrenal insufficiency in children. Although more than 250 different deleterious variations have been described, no genotype-phenotype correlation has been defined to date. We report a case of an adopted boy who reported the onset of an adrenal crisis at 2 weeks of age, requiring...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38243380
DOI: 10.1002/ajmg.a.63536

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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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