Article
Impact of molecular genetics on congenital adrenal hyperplasia management.
Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation - 1 Sept 2010
Balsamo A, Baldazzi L, Menabò S, Cicognani A
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations in genes encoding the enzymes involved in one of the 5 steps of adrenal steroid synthesis or the electron donor P450 oxidoreductase (POR) enzyme. Steroid 21-hydroxylase deficiency (21-OHD), the principal focus of this review, accounts for about 90-95% of all CAH cases, and its biochemical and clinical severity...
Topics
- Adrenal Hyperplasia, Congenital
- Genetic Counseling
- Humans
- Molecular Biology
- Mutation
- Phenotype
- Steroid 21-Hydroxylase