Article
A (R80Q) mutation in 17 beta-hydroxysteroid dehydrogenase type 3 gene among Arabs of Israel is associated with pseudohermaphroditism in males and normal asymptomatic females.
The Journal of clinical endocrinology and metabolism - 1 May 1996
Rösler A, Silverstein S, Abeliovich D
Abstract excerpt
Four isozymes of steroid 17 beta-hydroxysteroid dehydrogenase (17 beta HSD) encoded by different loci catalyze the reversible conversion of androstenedione to testosterone and that of estrone to estradiol. The 17 beta HSD type 3 (17 beta HSD3) isozyme is encoded by the 17 beta HSD3 gene on chromo...
Topics
- 17-Hydroxysteroid Dehydrogenases
- Alleles
- Base Sequence
- Disorders of Sex Development
- Exons
- Female
- Homozygote
- Humans
- Isoenzymes
- Israel
- Karyotyping
- Male