Article
21-hydroxylase genotyping in Australasian patients with congenital adrenal hyperplasia.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Feb 2009
Jeske Y W A, McGown I N, Harris M, Bowling F G, Choong C S Y, Cowley D M, Cotterill A M
Abstract excerpt
Mutations in CYP21 (21-hydroxylase) lead to congenital adrenal hyperplasia (CAH). We genotyped 26 probands with CAH by PCR-sequencing the entire CYP21 gene. 25/26 had homozygous or compound heterozygous mutations. The frequencies of mutations were similar to other populations with deletion/hybrid...
Topics
- Adrenal Hyperplasia, Congenital
- Adult
- Australasia
- Child
- Child, Preschool
- DNA Mutational Analysis
- Family Health
- Female
- Genotype
- Humans
- Infant
- Infant, Newborn
- Male
- Mutation
- Pedigree
- Steroid 21-Hydroxylase