Article
Defects in the HSD11 gene encoding 11 beta-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency.
The Journal of clinical endocrinology and metabolism - 1 Sept 1993
Nikkilä H, Tannin G M, New M I, Taylor N F, Kalaitzoglou G, Monder C, White P C
Abstract excerpt
The syndrome of apparent mineralocorticoid excess (AME) is a form of low renin hypertension that is thought to be caused by congenital deficiency of 11 beta-hydroxysteroid dehydrogenase (11HSD) activity. This enzyme converts cortisol to cortisone and apparently prevents cortisol from acting as a...
Topics
- 11-beta-Hydroxysteroid Dehydrogenases
- Base Sequence
- Blotting, Southern
- Cortisone
- DNA
- Female
- Humans
- Hydrocortisone
- Hydroxysteroid Dehydrogenases
- Hypertension
- Infant
- Male
- Mineralocorticoids
- Molecular Sequence Data
- Mutation