Article
The biochemical and phenotypic characterization of females homozygous for 5 alpha-reductase-2 deficiency.
The Journal of clinical endocrinology and metabolism - 1 Nov 1995
Katz M D, Cai L Q, Zhu Y S, Herrera C, DeFillo-Ricart M, Shackleton C H, Imperato-McGinley J
Abstract excerpt
The biochemical and physiologic manifestations of decreased 5 alpha-dihydrotestosterone (DHT) in females are characterized. Three females from the large Dominican kindred with 5 alpha-reductase-2 deficiency were identified as homozygous for a point mutation (R246W, C-->T) on exon 5 of the 5 alpha...
Topics
- Adult
- Base Sequence
- Blood
- Cholestenone 5 alpha-Reductase
- DNA
- Disorders of Sex Development
- Female
- Heterozygote
- Homozygote
- Humans
- Male
- Menstrual Cycle
- Molecular Probes
- Molecular Sequence Data
- Oxidoreductases
- Pedigree
- Phenotype
- Point Mutation