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

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 experien...

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Detalles Bibliográficos
Autores principales: Bizzarri, Carla, Pisaneschi, Elisa, Mucciolo, Mafalda, Pedicelli, Stefania, Galeazzi, Daniela, Novelli, Antonio, Cappa, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5480121/
https://www.ncbi.nlm.nih.gov/pubmed/28637490
http://dx.doi.org/10.1186/s13052-017-0371-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5480121/
https://www.ncbi.nlm.nih.gov/pubmed/28637490
http://dx.doi.org/10.1186/s13052-017-0371-y

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