Article
Identification of heterozygotic carriers of 21-hydroxylase deficiency: sensitivity of ACTH stimulation tests.
American journal of medical genetics - 1 Apr 1998
Witchel S F, Lee P A
Abstract excerpt
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a common autosomal-recessive disorder. To ascertain carrier status, adrenocorticotropin (ACTH) stimulation tests are often used. To determine the sensitivity of ACTH stimulation to detect heterozygotes and to correlate stimulated...
Topics
- 17-alpha-Hydroxyprogesterone
- Adrenal Hyperplasia, Congenital
- Adrenocorticotropic Hormone
- Female
- Genetic Carrier Screening
- Genotype
- Humans
- Male
- Mutation
- Oligonucleotides
- Polymerase Chain Reaction
- Polymorphism, Restriction Fragment Length
- Polymorphism, Single-Stranded Conformational
- Predictive Value of Tests
- Sensitivity and Specificity
- Steroid 21-Hydroxylase