Article
[Adrenal enzyme deficiency].
La Revue du praticien - 1 Apr 1998
Forest M G
Abstract excerpt
The defect in 21-hydroxylase is responsible for 95% of the congenital adrenal hyperplasia. It is a recessive autosomic genetic disease with two major clinical presentation. The classical presentation is severe and frequent. It associates an adrenal deficiency with sexual ambiguity in the girl. The diagnosis is easy by measuring the plasma level of 17 OH progesterone in antenatal, perinatal samples. The non...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Child
- Female
- Gene Deletion
- Genetic Counseling
- Genotype
- Heterozygote
- Humans
- Infant, Newborn
- Male
- Mutation
- Pedigree