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Article

Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).

The Journal of clinical endocrinology and metabolism - 1 Jul 2010

Sahakitrungruang Taninee, Soccio Raymond E, Lang-Muritano Mariarosaria, Walker Joanna M, Achermann John C, Miller Walter L

Abstract excerpt

CONTEXT: Nonclassic congenital lipoid adrenal hyperplasia (lipoid CAH) is a recently recognized disorder caused by mutations in the steroidogenic acute regulatory protein (StAR) that retain partial function. Affected individuals can present with a phenotype of late onset adrenal insufficiency with only mild or minimally disordered sexual development. OBJECTIVES: The aim was to delineate the clinical spectrum of...

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Identifiers

PMID: 20444910
DOI: 10.1210/jc.2010-0437
PMCID: PMC2928910

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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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