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Article

A rare genetic disorder causing persistent severe neonatal hypoglycaemia the diagnostic workup.

BMJ case reports - 19 Jul 2012

Francescato Gaia, Salvatoni Alessandro, Persani Luca, Agosti Massimo

Abstract excerpt

We report a case of familial glucocorticoid deficiency (FGD), a rare genetic autosomal-recessive disorder with typical hyperpigmentation of the skin and mucous membranes, severe hypoglycaemia, occasionally leading to seizures and coma, feeding difficulties, failure to thrive and infections. A new...

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Identifiers

PMID: 22814974
DOI: 10.1136/bcr-03-2012-5979
PMCID: PMC4542951

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22814974-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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