Article
Molecular basis of congenital adrenal hyperplasia in two siblings with classical nonsalt-losing 3 beta-hydroxysteroid dehydrogenase deficiency.
The Journal of clinical endocrinology and metabolism - 1 Oct 1994
Rhéaume E, Sanchez R, Simard J, Chang Y T, Wang J, Pang S, Labrie F
Abstract excerpt
We report mutations of the type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) gene in two siblings, male and female, with congenital adrenal hyperplasia caused by classical nonsalt-losing 3 beta HSD deficiency. During childhood, the male sibling, born with ambiguous genitalia, and the femal...
Topics
- 3-Hydroxysteroid Dehydrogenases
- Adolescent
- Adrenal Hyperplasia, Congenital
- Base Sequence
- Dehydroepiandrosterone
- Female
- Genes
- Humans
- Kinetics
- Male
- Molecular Probes
- Molecular Sequence Data
- Mutagenesis, Site-Directed
- Mutation
- Point Mutation