Article
Hereditary defect in biosynthesis of aldosterone: aldosterone synthase deficiency 1964-1997.
The Journal of clinical endocrinology and metabolism - 1 Nov 1997
Peter M, Fawaz L, Drop S L, Visser H K, Sippell W G
Abstract excerpt
We studied two of the three patients with a hereditary defect in the biosynthesis of aldosterone originally described by Visser and Cost in 1964. All three presented as newborns with salt-losing syndrome and failure to thrive. The original biochemical studies showed a defect in the 18-hydroxylati...
Topics
- 18-Hydroxycorticosterone
- Adult
- Aldosterone
- Base Sequence
- Corticosterone
- Cytochrome P-450 CYP11B2
- DNA Restriction Enzymes
- Desoxycorticosterone
- Exons
- Female
- Humans
- Introns
- Male
- Mutation
- Pedigree
- Polymerase Chain Reaction