Article
Studies of 3 beta-hydroxysteroid dehydrogenase genes in infants and children manifesting premature pubarche and increased adrenocorticotropin-stimulated delta 5-steroid levels.
The Journal of clinical endocrinology and metabolism - 1 Nov 1996
Sakkal-Alkaddour H, Zhang L, Yang X, Chang Y T, Kappy M, Slover R S, Jorgensen V, Pang S
Abstract excerpt
Classic 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) deficiency congenital adrenal hyperplasia (CAH) results from a mutation in the type II 3 beta HSD gene encoding adrenal and gonadal 3 beta HSD. We investigated the type II and type I 3 beta HSD gene sequences in 15 infants and children with...
Topics
- 17-alpha-Hydroxypregnenolone
- 3-Hydroxysteroid Dehydrogenases
- Adrenal Hyperplasia, Congenital
- Adrenocorticotropic Hormone
- Androstenedione
- Case-Control Studies
- Child
- Child, Preschool
- Dehydroepiandrosterone
- Female
- Humans
- Hydrocortisone
- Infant