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Article

[Novel heterozygous mutation in the steroidogenic acute regulatory protein gene in a 46,XY patient with congenital lipoid adrenal hyperplasia].

Medicina - 1 Jan 2013

Baquedano María Sonia, Guercio Gabriela, Marino Roxana, Berensztein Esperanza, Costanzo Mariana, Ramírez Pablo, Bailez Marcela, Vaiani Elisa, Maceiras Mercedes, Rivarola Marco A, Belgorosky Alicia

Abstract excerpt

StAR facilitates cholesterol entry into the mitochondria as part of the transduceosome complex. Recessive mutations in the gen STAR cause classic and nonclassic congenital lipoid adrenal hyperplasia. The aim of the study was to analyze the molecular consequences of a novel heterozygous STAR mutation in a 46,XY patient with ambiguous genitalia and adrenal insufficiency. We found a de novo heterozygous IVS-2A>G...

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Topics

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Share to Adrenal Hyperplasia, Congenital
Share to Adrenal Insufficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chlorocebus aethiops

Share to COS Cells

Share to Disorder of Sex Development, 46,XY

Share to Phosphoproteins

Share to Real-Time Polymerase Chain Reaction

Share to Steroidogenic Acute Regulatory Protein

Source

Identifiers

PMID: 23924526

Genes

FDX1
FDXR
TSPO
VDAC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

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[Novel heterozygous mutation in the steroidogenic acute regulatory protein gene in a 46,XY patient with congenital lipoid adrenal hyperplasia].PMID 23924526Read ↗

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A Novel Mutation L260P of the Steroidogenic Acute Regulatory Protein Gene in Three Unrelated Patients of Swiss Ancestry with Congenital Lipoid Adrenal HyperplasiaSemantic proximity Read ↗

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Phenotypic features of 46, XX females with StAR protein mutations.Semantic proximity Read ↗

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