Article
A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia-CYP21A2-R484Q Mutant Mouse.
International journal of molecular sciences - 7 May 2024
Thirumalasetty Shamini Ramkumar, Schubert Tina, Naumann Ronald, Reichardt Ilka, Rohm Marie-Luise, Landgraf Dana, Gembardt Florian, Peitzsch Mirko, Hartmann Michaela F, Sarov Mihail, Wudy Stefan A, Reisch Nicole, Huebner Angela, Koehler Katrin
Abstract excerpt
Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder impairing cortisol synthesis due to reduced enzymatic activity. This leads to persistent adrenocortical overstimulation and the accumulation of precursors before the blocked enzymatic step. The predominant form of CAH arises from mutations in CYP21A2, causing 21-hydroxylase deficiency (21-OHD). Despite emerging treatment options for CAH, it...
Topics
- Animals
- Adrenal Hyperplasia, Congenital
- Disease Models, Animal
- Steroid 21-Hydroxylase
- Mice
- Female
- Male
- Humans
- Corticosterone
- Aldosterone