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Article

Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by estriol amniotic fluid analysis and molecular genetic testing.

Prenatal diagnosis - 1 Jan 2008

Jean Amy, Mansukhani Mahesh, Oberfield Sharon E, Fennoy Ilene, Nakamoto Jon, Atwan Maha, Lerer Israela, Neriah Ziva Ben, Zangen David H, Chung Wendy K

Abstract excerpt

OBJECTIVE: Congenital lipoid adrenal hyperplasia is an autosomal recessive condition due to mutations in Steroidogenic Acute Regulatory Protein (StAR) associated with the inability to synthesize all adrenal and gonadal steroids, resulting in adrenal insufficiency and failure to develop male genit...

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Source

Identifiers

PMID: 18058976
DOI: 10.1002/pd.1906

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18058976-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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