Article
Molecular genetics of steroid 5 alpha-reductase 2 deficiency.
The Journal of clinical investigation - 1 Sept 1992
Thigpen A E, Davis D L, Milatovich A, Mendonca B B, Imperato-McGinley J, Griffin J E, Francke U, Wilson J D, Russell D W
Abstract excerpt
Two isozymes of steroid 5 alpha-reductase encoded by separate loci catalyze the conversion of testosterone to dihydrotestosterone. Inherited defects in the type 2 isozyme lead to male pseudohermaphroditism in which affected males have a normal internal urogenital tract but external genitalia rese...
Topics
- 3-Oxo-5-alpha-Steroid 4-Dehydrogenase
- Base Sequence
- Chromosome Mapping
- Disorders of Sex Development
- Female
- Heterozygote
- Humans
- Hydrogen-Ion Concentration
- Male
- Molecular Sequence Data
- Mutation