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Article

Syndrome of congenital adrenocortical unresponsiveness to ACTH. Report of six patients.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Jan 2000

Berberoğlu M, Aycan Z, Ocal G, Begeot M, Naville D, Akar N, Adiyaman P, Evliyaoglu O, Penhoat A

Abstract excerpt

Familial glucocorticoid deficiency (FGD) or unresponsiveness to ACTH at the receptor level is a rare autosomal recessive hereditary syndrome characterized by a low cortisol level despite high serum ACTH concentration. Aldosterone levels are normal. The clinical entity generally presents in the first year of life with skin hyperpigmentation and hypoglycemic convulsions. Cortisol response to exogenous ACTH is also...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 11592568
DOI: 10.1515/jpem-2001-0807

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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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