Article
21-hydroxylase deficiency congenital adrenal hyperplasia.
The Journal of steroid biochemistry and molecular biology - 1 Jan 1994
New M I
Abstract excerpt
Congenital adrenal hyperplasia (CAH) results from an enzymatic block at any stage in the synthesis of cortisol. All enzyme defects causing CAH are autosomal recessive traits. It is a relatively common disease, occurring in 1 in 5000 to 1 in 15,000 births in most populations. Since the isolation o...
Topics
- Adrenal Hyperplasia, Congenital
- Female
- Genotype
- Humans
- Phenotype
- Pregnancy
- Prenatal Diagnosis
- Steroid 21-Hydroxylase