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Article

Molecular and clinical characterization of Korean patients with congenital lipoid adrenal hyperplasia.

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

Yoo H W, Kim G H

Abstract excerpt

Congenital lipoid adrenal hyperplasia (CLAH) is a rare autosomal recessive disorder of steroid biosynthesis, caused by a molecular defect in the steroidogenic acute regulatory protein (StAR). Patients with CLAH usually manifest severe salt wasting, hypovolemia, enlargement of the adrenal glands and complete female external genitalia irrespective of the gonadal sex. CLAH seems to be more common in Koreans and...

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Share to Adrenal Hyperplasia, Congenital
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9829224
DOI: 10.1515/jpem.1998.11.6.707

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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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Molecular and clinical characterization of Korean patients with congenital lipoid adrenal hyperplasia.PMID 9829224Read ↗

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Clinical and molecular characterization of thirty Chinese patients with congenital lipoid adrenal hyperplasia.Semantic proximity Read ↗

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[Clinical and StAR genetic characteristics of 33 children with congenital lipoid adrenal hyperplasia].Semantic proximity Read ↗

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[Molecular genetic analysis of congenital lipoid adrenal hyperplasia].Semantic proximity Read ↗

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