Article
Hyperandrogenism and manifesting heterozygotes for 21-hydroxylase deficiency.
Biochemical and molecular medicine - 1 Dec 1997
Witchel S F, Lee P A, Suda-Hartman M, Hoffman E P
Abstract excerpt
Premature adrenarche and functional adolescent androgen excess are common disorders which may evolve into polycystic ovary syndrome (PCOS). In all three disorders, ACTH-stimulated 17-hydroxyprogesterone concentrations are often somewhat elevated. To determine the role of 21-hydroxylase (CYP21) gene mutations in these disorders, we performed molecular genotype analysis on 48 children and adolescents referred for...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Child
- Child, Preschool
- DNA Mutational Analysis
- Female
- Genetic Carrier Screening
- Genetic Testing
- Genotype
- Humans
- Hyperandrogenism