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ea0020p45 | Adrenal | ECE2009

Long-term follow-up of a 46XX patient with congenital lipoid adrenal hyperplasia due to a new mutation of the steroidogenic acute regulatory protein gene

Albarel Frederique , Simonin Gilbert , Morel Yves , Brue Thierry , Reynaud Rachel

Congenital lipoid adrenal hyperplasia (CLAH) is a severe disorder characterized by early impairment of both adrenal and gonadal steroidogenesis, leading to early adrenal failure and male sex reversal. The most common aetiology of CLAH is mutation of Steroidogenic acute regulatory protein (StAR) gene.Objective: We report evolution over 20 years of a 46XX patient harbouring a novel StAR gene mutation.Methods: Clinical, hormonal and i...
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Published by BioScientifica

Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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