Article
An update of congenital adrenal hyperplasia.
Annals of the New York Academy of Sciences - 1 Dec 2004
New Maria I
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations that encode for enzymes involved in one of the various steps of adrenal steroid synthesis. These defects result in the absence or the decreased synthesis of cortisol from its cholesterol precurso...
Topics
- Adrenal Hyperplasia, Congenital
- Female
- Genotype
- Hormones
- Humans
- Male
- Menstruation
- Prenatal Diagnosis
- Puberty
- Steroid 21-Hydroxylase