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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Vydáno v:Ital J Pediatr
Hlavní autoři: Bizzarri, Carla, Pisaneschi, Elisa, Mucciolo, Mafalda, Pedicelli, Stefania, Galeazzi, Daniela, Novelli, Antonio, Cappa, Marco
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2017
Témata:
Case Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5480121/
https://ncbi.nlm.nih.gov/pubmed/28637490
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-017-0371-y
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