Article
[Virilizing congenital adrenogenital syndrome with a de novo I172N mutation: study of a new case].
Anales de pediatria (Barcelona, Spain : 2003) - 1 Jan 2010
Díez López I, Rodríguez Estévez A, González Molina E, Martínez Ayucar M, Rodríguez Pérez B, Ezquieta Zubicaray B
Abstract excerpt
The classical form of congenital adrenal hyperplasia is the result of mutations in the 21-hydroxylase gene (CYP21A2). Most deficient alleles carry pre-existing mutations in the CYP21PA homologue pseudogene, located in tandem. Mutant alleles are inherited from carrier parents, and de novo mutations during gametogenesis or foetal development are exceptional. The present paper describes a de novo mutation occurring...
Topics
- Adrenogenital Syndrome
- Female
- Humans
- Infant, Newborn
- Mutation
- Steroid 21-Hydroxylase