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Article

Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita.

The Journal of steroid biochemistry and molecular biology - 1 Jun 2003

Fujieda Kenji, Okuhara Koji, Abe Shuji, Tajima Toshihiro, Mukai Tokuo, Nakae Jun

Abstract excerpt

Congenital lipoid adrenal hyperplasia (lipoid CAH) is the most severe form of CAH in which the synthesis of all gonadal and adrenal cortical steroids is markedly impaired. Lipoid CAH may be caused by the defect in either the steroidogenic acute regulatory (StAR) protein or the P450scc. More than 34 different mutations in StAR gene have been identified. Clinically, most of the patients manifest adrenal...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 12943739
DOI: 10.1016/s0960-0760(03)00232-2

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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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