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Article

Novel compound heterozygous mutation of the MC2R gene in a patient with familial glucocorticoid deficiency.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Sept 2006

Matsuura Hiroki, Shiohara Masaaki, Yamano Mizuki, Kurata Kenji, Arai Fumi, Koike Kenichi

Abstract excerpt

Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder characterised by glucocorticoid insufficiency without mineralocorticoid deficiency. Here, we report a 2 year-old girl with FGD, showing tall stature and skin pigmentation, but no abnormalities of the external genitalia. Serum sodium, potassium and chloride levels were within normal ranges. Endocrinological analysis revealed low serum...

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Identifiers

PMID: 17128565
DOI: 10.1515/jpem.2006.19.9.1167

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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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