Article
No genetic mutation in type II 3 beta-hydroxysteroid dehydrogenase gene in patients with biochemical evidence of enzyme deficiency.
Hormone research - 1 Jan 1997
Tajima T, Nishi Y, Takase A, Nakae J, Murashita M, Fujieda K
Abstract excerpt
Nonclassic or the mild form of 3 beta-hydroxysteroid dehydrogenase (NC3 beta-HSD) deficiency is an entity which is identified with typical features of premature pubarche, hirsutism, or oligomenorrhea. In this study, type II 3 beta-HSD gene from 4 girls who were diagnosed as NC3 beta-HSD deficient...
Topics
- Adolescent
- Adrenocorticotropic Hormone
- Base Sequence
- Child
- DNA Primers
- Female
- Hirsutism
- Humans
- Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Progesterone Reductase
- Puberty, Precocious
- Sequence Analysis, DNA