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Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene

✍ Scribed by Oksana Lekarev; Delphine Mallet; Tony Yuen; Yves Morel; Maria I. New

Book ID: 118297414
Publisher: Springer
Year: 2011
Tongue: English
Weight: 191 KB
Volume: 171
Category: Article
ISSN: 0340-6997
DOI: 10.1007/s00431-011-1620-5

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Congenital lipoid adrenal hyperplasia (CLAH) is an autosomalrecessive disorder characterized by impaired production of allsteroids including glucocorticoids, mineralocorticoids and sexsteroids. It has recently been reported that mutations in thesteroidogenic acute regulatory protein (StAR) gene caus