Article
Clinical, endocrine, and molecular genetic findings in patients with 17beta-hydroxysteroid dehydrogenase deficiency.
Hormone research - 1 Jan 2000
Twesten W, Holterhus P, Sippell W G, Morlot M, Schumacher H, Schenk B, Hiort O
Abstract excerpt
Mutations in the 17beta-hydroxysteroid dehydrogenase (17beta-HSD) type 3 gene are associated with the clinical findings of 17beta-HSD deficiency. We investigated 5 patients of German descent with 46,XY karyotype and predominantly female phenotype. Androstenedione (A) and testosterone (T) levels in serum were determined before and after stimulation with human chorionic gonadotropin. DNA analysis of the whole...
Topics
- 17-Hydroxysteroid Dehydrogenases
- Amino Acid Sequence
- Androstenedione
- Base Sequence
- Child
- Child, Preschool
- Chorionic Gonadotropin
- DNA
- Disorders of Sex Development
- Female
- Humans
- Infant, Newborn
- Male
- Molecular Biology
- Mutation
- Phenotype
- Sequence Homology, Amino Acid
- Testosterone