Article
Congenital adrenal hyperplasia. Molecular insights learned from patients.
Receptor - 1 Jan 1993
Kalaitzoglou G, New M I
Abstract excerpt
Congenital adrenal hyperplasia (CAH) results from enzymatic blocks 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 of the gene responsible for steroid 21-hydroxylase deficiency (involved in about 90% of the cases of CAH) in 1984, knowledge of the...
Topics
- 3-Hydroxysteroid Dehydrogenases
- Adrenal Hyperplasia, Congenital
- Female
- Genotype
- Humans
- Infant, Newborn
- Mixed Function Oxygenases
- Mutation
- Phenotype
- Pregnancy
- Prenatal Diagnosis
- Steroids