Article
A novel A10E homozygous mutation in the HSD3B2 gene causing severe salt-wasting 3beta-hydroxysteroid dehydrogenase deficiency in 46,XX and 46,XY French-Canadians: evaluation of gonadal function after puberty.
The Journal of clinical endocrinology and metabolism - 1 May 2000
Alos N, Moisan A M, Ward L, Desrochers M, Legault L, Leboeuf G, Van Vliet G, Simard J
Abstract excerpt
Severe 3beta-hydroxysteroid dehydrogenase (3betaHSD) deficiency is a rare form of congenital adrenal hyperplasia resulting from mutations in the HSD3B2 gene that impair steroidogenesis in both the adrenals and gonads and cause salt-wasting in both sexes and incomplete masculinization of the external genitalia in genetic males. About two thirds of the reported patients are 46,XY. We describe two French-Canadian...
Topics
- 3-Hydroxysteroid Dehydrogenases
- Adolescent
- Adrenal Hyperplasia, Congenital
- Amino Acid Substitution
- Base Sequence
- Canada
- Child
- Chromosome Mapping
- Chromosomes, Human, Pair 1
- Consanguinity
- Female
- Founder Effect