Article
No evidence of mutations in the genes for type I and type II 3 beta-hydroxysteroid dehydrogenase (3 beta HSD) in nonclassical 3 beta HSD deficiency.
The Journal of clinical endocrinology and metabolism - 1 Dec 1994
Zerah M, Rhéaume E, Mani P, Schram P, Simard J, Labrie F, New M I
Abstract excerpt
Nonclassical 3 beta-hydroxysteroid dehydrogenase/delta 5-delta 4-isomerase deficiency (NC3 beta HSDD) has been diagnosed in hyperandrogenic women with an increasing frequency during the last 14 yr. Fifteen menarcheal women with androgen excess syndrome, diagnosed with NC3 beta HSDD previously were restudied, in 12 after discontinuation of glucocorticoid treatment, in 2 patients never treated with glucocorticoids,...
Topics
- 3-Hydroxysteroid Dehydrogenases
- Adrenocorticotropic Hormone
- DNA Mutational Analysis
- Female
- Genetic Linkage
- Glucocorticoids
- Hirsutism
- Humans
- Multienzyme Complexes
- Mutation