Article
Mutations in the type II 3beta-hydroxysteroid dehydrogenase (HSD3B2) gene can cause premature pubarche in girls.
Clinical endocrinology - 1 Jan 2000
Marui S, Castro M, Latronico A C, Elias L L, Arnhold I J, Moreira A C, Mendonca B B
Abstract excerpt
OBJECTIVE: Most previous studies have failed to demonstrate any mutations in the type II 3beta hydroxysteroid dehydrogenase (HSD3B2) gene in patients satisfying the hormonal criteria of nonclassic 3beta-hydroxysteroid dehydrogenase deficiency, suggesting that a mutant 3beta-hydroxysteroid dehydrogenase protein is not the cause of this disorder. We screened the HSD3B2 gene for mutations in girls with premature...
Topics
- 17-alpha-Hydroxypregnenolone
- 3-Hydroxysteroid Dehydrogenases
- Adrenocorticotropic Hormone
- Child
- DNA Mutational Analysis
- Female
- Humans
- Isoenzymes
- Mutation
- Polymerase Chain Reaction
- Puberty, Precocious