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Article

NR0B1 Gene Variants as Rare Forms of Primary Adrenal Insufficiency in Children: Case Report and Narrative Review.

Genes - 31 May 2026

Montafia Ilaria, Dimarakis Sotirios, Partenope Cristina, Rabbone Ivana, Bellone Simonetta, Petri Antonella, Mellone Simona, Giordano Mara, Prodam Flavia

Abstract excerpt

Primary adrenal insufficiency (PAI) is a severe and potentially life-threatening condition characterised by the inability of the adrenal cortex to produce enough glucocorticoids and/or mineralocorticoids. The clinical signs of PAI are primarily due to deficient steroid hormone synthesis and include weight loss, orthostatic hypotension secondary to dehydration, hyponatremia, hyperkalaemia, and hypoglycaemia. In...

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Identifiers

PMID: 42353799
DOI: 10.3390/genes17060640
PMCID: PMC13299720

Genes

NR0B1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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NR0B1 Gene Variants as Rare Forms of Primary Adrenal Insufficiency in Children: Case Report and Narrative Review.PMID 42353799Read ↗

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