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

• Hoofdauteurs: Carla Bizzarri (Auteur), Elisa Pisaneschi (Auteur), Mafalda Mucciolo (Auteur), Stefania Pedicelli (Auteur), Daniela Galeazzi (Auteur), Antonio Novelli (Auteur), Marco Cappa (Auteur)
• Formaat: Boek
• Gepubliceerd in: BMC, 2017-06-01T00:00:00Z.
• Onderwerpen: article
• Online toegang: Connect to this object online.

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...