Article
Untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
European journal of pediatrics - 1 Jul 2009
Tahirovic Husref, Toromanovic Alma, Grubic Marina, Grubic Zorana, Dumic Katja
Abstract excerpt
Congenital adrenal hyperplasia (CAH) is an inherited metabolic disease caused by the deficiency of one of the enzymes necessary for cortisol synthesis. With carefully supervised medical treatment, CAH patients have the capacity for normal puberty and fertility. We report on a 12.4-year-old female who, because of the early interruption of treatment, developed progressive virilization with reduced final height and...
Topics
- Adrenal Hyperplasia, Congenital
- Child
- Drug Administration Schedule
- Female
- Glucocorticoids
- Heterozygote
- Humans
- Mineralocorticoids
- Mutation
- Phenotype
- Sexual Maturation