Article
[Simple virilizing forms of congenital adrenal hyperplasia: adaptation and prospective validation of the molecular screening].
Medicina clinica - 10 Jul 2010
Santomé Collazo José Luis, Cirujano Segura Ana, Ferreiro Fernández Belén, Casado Fúnez Consolación, Muñoz-Pacheco Rafael, Ezquieta Zubicaray Begoña
Abstract excerpt
BACKGROUND AND OBJECTIVE: Congenital Adrenal Hyperplasia (CAH) is not an infrequent genetic disorder for which mutation-based analysis for CYP21A2 gene is a useful tool. Contrarily to salt-wasting forms the basic mutation screening accounts only for 83% of simple virilising (SV) phenotypes. Rare alleles with a local distribution not included in the basic panel may reduce its diagnostic accuracy. Our aim is to...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Adult
- Child
- Child, Preschool
- Female
- Genetic Testing
- Humans
- Infant
- Infant, Newborn
- Male