Article
Diagnosis and treatment of 17-hydroxylase deficiency.
The Journal of steroid biochemistry and molecular biology - 1 Apr 1993
Peter M, Sippell W G, Wernze H
Abstract excerpt
Leading symptoms of 17-hydroxylase/17,20-lyase deficiency in childhood are hypertension and hypokalemia. We found this enzyme defect in 3 phenotypically female siblings aged 12, 15 and 16 years. Two of the sibs have a 46,XY chromosome pattern, the third is genetically female. Pubertal development did not occur. Both of the 46,XY sibs have male internal and female external genitalia. The 46,XX sister has normal...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Child
- Dexamethasone
- Female
- Humans
- Hypertension
- Hypokalemia
- Male
- Metabolism, Inborn Errors
- Phenotype