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Article

A novel mutation in the NNT gene causing familial glucocorticoid deficiency, with a literature review.

Annales d'endocrinologie - 1 Feb 2024

Pons Fernández Natividad, Moriano Gutiérrez Ana, Taberner Pazos Belén, Tarragon Cros Andrés, Díez Gandía Eva, Zuñiga Cabrera Ángel

Abstract excerpt

Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterized by low cortisol levels despite elevated adrenocorticotropin (ACTH). Mineralocorticoid secretion is classically normal. Clinical manifestations are secondary to low cortisol levels (recurrent hypoglycemia, chronic asthenia, failure to thrive, seizures) and high levels of ACTH (cutaneous-mucosal hyperpigmentation). FGD is...

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Source

Identifiers

PMID: 37352919
DOI: 10.1016/j.ando.2023.05.011

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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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