Article
Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicas - 1 Jan 1996
de-Araujo M, Sanches M R, Suzuki L A, Guerra G, Farah S B, de-Mello M P
Abstract excerpt
The most common enzymatic defect of steroid synthesis is deficiency of the adrenal steroid 21-hydroxylase. Inhibition of the formation of cortisol results in an increased pituitary release of ACTH which in turn drives the adrenal cortex to overproduce androgens. This hormonal setting affects the...
Topics
- Adrenal Hyperplasia, Congenital
- Aldosterone
- Androgens
- Blotting, Southern
- Brazil
- Child
- Child, Preschool
- Female
- Gene Deletion
- Gene Frequency
- Humans
- Hydrocortisone
- Infant
- Infant, Newborn
- Male
- Mutation
- Sex Differentiation
- Steroid 21-Hydroxylase