Article
Prenatal diagnosis of congenital adrenal hyperplasia by direct detection of mutations in the steroid 21-hydroxylase gene.
Clinical endocrinology - 1 Apr 1993
Rumsby G, Honour J W, Rodeck C
Abstract excerpt
OBJECTIVE: Our aim was to develop a rapid and accurate method for the prenatal diagnosis of congenital adrenal hyperplasia using the polymerase chain reaction to detect mutations in the steroid 21-hydroxylase gene. These procedures will help to minimize exposure to dexamethasone treatment of eith...
Topics
- Adrenal Hyperplasia, Congenital
- Base Sequence
- Chorionic Villi Sampling
- Dexamethasone
- Electrophoresis, Polyacrylamide Gel
- Exons
- Female
- Fetal Diseases
- Humans
- Male
- Molecular Sequence Data
- Mutation
- Oligonucleotide Probes
- Polymerase Chain Reaction
- Pregnancy
- Pregnancy Trimester, First
- Steroid 21-Hydroxylase