Article
Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation.
Hormones (Athens, Greece) - 1 Apr 2016
Shammas Christos, Byrou Stefania, Phelan Marie M, Toumba Meropi, Stylianou Charilaos, Skordis Nicos, Neocleous Vassos, Phylactou Leonidas A
Abstract excerpt
OBJECTIVE: Congenital adrenal hyperplasia (CAH) is an endocrine autosomal recessive disorder with various symptoms of diverse severity. Mild hyperandrogenemia is the most commonclinical feature in non-classic CAH patients and 95% of the cases are identified by mutations in the CYP21A2 gene. In th...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Child
- Child, Preschool
- Computer Simulation
- DNA Mutational Analysis
- Enzyme Stability
- Female
- Genetic Predisposition to Disease
- Genetic Testing
- Heterozygote
- Humans
- Hyperandrogenism
- Models, Molecular