Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency

Abstract Background Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a defect in the conversion of cholesterol to pregnenolone. Affected infants...

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Bibliographic Details
Main Authors: Carla Bizzarri, Elisa Pisaneschi, Mafalda Mucciolo, Stefania Pedicelli, Daniela Galeazzi, Antonio Novelli, Marco Cappa
Format: Article
Language:English
Published: BMC 2017-06-01
Series:Italian Journal of Pediatrics
Subjects:
Congenital adrenal hyperplasia
Steroidogenic acute regulatory protein
Adrenal insufficiency
infant
Online Access:http://link.springer.com/article/10.1186/s13052-017-0371-y

Internet

http://link.springer.com/article/10.1186/s13052-017-0371-y

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