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Article

A novel presentation of familial glucocorticoid deficiency (FGD) and current literature review.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2004

Selva Karin A, LaFranchi Stephen H, Boston Bruce

Abstract excerpt

Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder, which manifests as isolated glucocorticoid deficiency with normal mineralocorticoid function. The disease is secondary to ACTH unresponsiveness, with low serum cortisol concentrations in the presence of markedly elevated ACTH levels. Approximately 40% of patients with FGD have an identifiable mutation in the ACTH receptor gene. The...

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Source

Identifiers

PMID: 14960026
DOI: 10.1515/jpem.2004.17.1.85

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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