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KATHAROPOULOS , Efstathios

Last name: KATHAROPOULOS

First name: Efstathios

2020 (v1)

Publication

Metadata-only

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

Katharopoulos, Efstathios Di Iorgi, Natascia Fernandez-Alvarez, Paula

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 signaling to the pituary gland. Genetic work up...

Uploaded on: March 27, 2023