Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia

Congenital adrenal hyperplasia (CAH) consists of several autosomal recessive disorders that inhibit steroid biosynthesis. We describe a case report diagnosed with adrenal insufficiency due to low adrenal steroids and adrenocorticotropic hormone excess due to lack of cortisol negative feedback signal...

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Publié dans:Int J Mol Sci
Auteurs principaux: Katharopoulos, Efstathios, Di Iorgi, Natascia, Fernandez-Alvarez, Paula, Pandey, Amit V., Groessl, Michael, Dubey, Shraddha, Camats, Núria, Napoli, Flavia, Patti, Giuseppa, Lezzi, Marilea, Maghnie, Mohamad, Flück, Christa E.
Format: Artigo
Langue:Inglês
Publié: MDPI 2020
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7504070/
https://ncbi.nlm.nih.gov/pubmed/32867102
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21176185
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