Article
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Endocrine reviews - 1 Jun 2000
White P C, Speiser P W
Abstract excerpt
More than 90% of cases of congenital adrenal hyperplasia (CAH, the inherited inability to synthesize cortisol) are caused by 21-hydroxylase deficiency. Females with severe, classic 21-hydroxylase deficiency are exposed to excess androgens prenatally and are born with virilized external genitalia. Most patients cannot synthesize sufficient aldosterone to maintain sodium balance and may develop potentially fatal...
Topics
- Adrenal Cortex Hormones
- Adrenal Glands
- Adrenal Hyperplasia, Congenital
- Amino Acid Sequence
- Base Sequence
- Disorders of Sex Development
- Female
- Genotype
- Glucocorticoids
- Humans
- Male
- Molecular Sequence Data