Article
A new variant of the cytochrome P450c17 (CYP17) gene mutation in three patients with 17 alpha-hydroxylase deficiency.
Annals of human genetics - 1 May 1997
Monno S, Mizushima Y, Toyoda N, Kashii T, Kobayashi M
Abstract excerpt
A new CYP17 gene abnormality was found in three Japanese patients with 17 alpha-hydroxylase deficiency (170HD). These patients were children from consanguineous marriages, but from two apparently unrelated families: one patient with 46, XY karyotype, and two siblings with 46, XX and 46, XY karyot...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Adult
- Consanguinity
- Cytochrome P-450 Enzyme System
- Disorders of Sex Development
- Female
- Genetic Variation
- Heterozygote
- Homozygote
- Humans
- Hypogonadism
- Japan
- Karyotyping
- Lipid Metabolism, Inborn Errors
- Male
- Mutation
- Polymerase Chain Reaction