Article
Screening for mutations of 21-hydroxylase gene in Hungarian patients with congenital adrenal hyperplasia.
The Journal of clinical endocrinology and metabolism - 1 Jul 1999
Ferenczi A, Garami M, Kiss E, Pék M, Sasvári-Székely M, Barta C, Staub M, Sólyom J, Fekete G
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders, causing impaired secretion of cortisol and aldosterone from the adrenal cortex, with subsequent overproduction of adrenal androgens. The most common enzyme defect causing CAH is steroid 21-hydroxylase deficiency. To...
Topics
- Adrenal Hyperplasia, Congenital
- Chromosomes, Human, Pair 6
- DNA Mutational Analysis
- Female
- Gene Deletion
- Genotype
- Humans
- Hungary
- Male
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Steroid 21-Hydroxylase