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Article

A novel mutation in the accessory DNA-binding domain of human steroidogenic factor 1 causes XY gonadal dysgenesis without adrenal insufficiency.

European journal of endocrinology - 1 Aug 2007

Reuter Anne L, Goji Katsumi, Bingham Nathan C, Matsuo Masafumi, Parker Keith L

Abstract excerpt

OBJECTIVE: Steroidogenic factor 1 (SF1), officially designated NR5A1, is a nuclear receptor that plays key roles in endocrine development and function. Previous reports of human SF1 mutations revealed a spectrum of phenotypes affecting adrenal function and/or gonadal development and sex differentiation. We present the clinical phenotype and functional effects of a novel SF1 mutation. PATIENT: The patient is a...

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Share to Adrenal Insufficiency
Share to Electrophoretic Mobility Shift Assay

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fluorescent Antibody Technique

Share to Gonadal Dysgenesis, 46,XY

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Share to Receptors, Cytoplasmic and Nuclear

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Identifiers

PMID: 17656604
DOI: 10.1530/EJE-07-0113

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