Article
Evidence for a heterozygote advantage in congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
The Journal of clinical endocrinology and metabolism - 1 Jul 1997
Witchel S F, Lee P A, Suda-Hartman M, Trucco M, Hoffman E P
Abstract excerpt
21-Hydroxylase deficiency is one of the most common inherited disorders, with carrier frequencies of approximately 10% in all world populations studied to date. The high prevalence of the mutant gene is probably due to a flanking pseudogene serving as a reservoir for mutations. Despite the potent...
Topics
- 17-alpha-Hydroxyprogesterone
- Adrenal Hyperplasia, Congenital
- Adrenocorticotropic Hormone
- Female
- Genotype
- Heterozygote
- Humans
- Hydrocortisone
- Male
- Steroid 21-Hydroxylase