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Article

STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.

Clinical endocrinology - 1 Feb 2014

Camats Núria, Pandey Amit V, Fernández-Cancio Mónica, Fernández Juan M, Ortega Ana M, Udhane Sameer, Andaluz Pilar, Audí Laura, Flück Christa E

Abstract excerpt

OBJECTIVE: The steroidogenic acute regulatory protein (StAR) transports cholesterol to the mitochondria for steroidogenesis. Loss of StAR function causes lipoid congenital adrenal hyperplasia (LCAH) which is characterized by impaired synthesis of adrenal and gonadal steroids causing adrenal insufficiency, 46,XY disorder of sex development (DSD) and failure of pubertal development. Partial loss of StAR activity...

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Adrenal Hyperplasia, Congenital
Adrenal Insufficiency
Chlorocebus aethiops
Cholesterol
COS Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Disorder of Sex Development, 46,XY

Phosphoproteins

Steroidogenic Acute Regulatory Protein

Source

Identifiers

PMID: 23859637
DOI: 10.1111/cen.12293

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