Article
Congenital adrenal hyperplasia caused by 21-hydroxylase deficiency. Its molecular basis and its remaining therapeutic problems.
Endocrinology and metabolism clinics of North America - 1 Jun 1991
Migeon C J, Donohoue P A
Abstract excerpt
This article discusses congenital adrenal hyperplasia (CAH) caused by a deficiency of 21-hydroxylase, which represents 90% of all cases of CAH. As in other genetic disorders of metabolism, the symptoms of CAH are related to both the decrease of the final products of metabolism and the accumulation of precursors that are not normally secreted or that are secreted in only very small amounts. The biochemistry,...
Topics
- Adrenal Hyperplasia, Congenital
- Adult
- Cytochrome P-450 Enzyme System
- Female
- Humans
- Male
- Mutation
- Pregnancy
- Prenatal Diagnosis