Article
A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.
The Journal of clinical endocrinology and metabolism - 1 Dec 1997
Kitanaka S, Katsumata N, Tanae A, Hibi I, Takeyama K, Fuse H, Kato S, Tanaka T
Abstract excerpt
Apparent mineralocorticoid excess (AME) characterized by early-onset hypertension and hypokalemia is due to congenital deficiency of 11 beta-hydroxysteroid dehydrogenase (11 beta HSD). Two isoforms of human 11 beta HSD are known, and the type 2 isoform (11 beta HSD2) has been recently shown to be...
Topics
- 11-beta-Hydroxysteroid Dehydrogenases
- Base Sequence
- Child, Preschool
- DNA Restriction Enzymes
- Enzyme Activation
- Heterozygote
- Humans
- Hydroxysteroid Dehydrogenases
- Isoenzymes
- Male
- Mineralocorticoids
- Mutation
- Pedigree