title: Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment.
abstract: The molecular genetics of congenital adrenal hyperplasia due to 21-hydroxylase deficiency are reviewed. In Sweden, mutation detection based on allele-specific PCR has been used for genetic diagnosis of this disease since 1993. Around 400 affected 21-hydroxylase genes have been analysed so far. An update of the spectrum of mutations among the Swedish patients shows that nine common pseudogene-derived mutations are responsible for the disease in around 95% of alleles. A total of 13 rare, mostly population-specific mutations have been characterized among the remaining 5%. The mutations can be divided into different groups according to severity. This makes it possible to predict clinical outcome in affected subjects based on genotyping. The risk of salt-wasting and prenatal virilization can be estimated, and over-treatment can be avoided in mildly affected cases.
authors.affiliation: Department of Molecular Medicine, Karolinska Hospital, Stockholm, Sweden.
authors.forename: A
authors.initials: A
authors.lastname: Wedell
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000175:diagnosis / Q000201:enzymology / Q000235:genetics* / Q000628:therapy; D000483:Alleles; D002896:Chromosomes, Human, Pair 6; D005838:Genotype; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D011110:Polymorphism, Genetic; D011379:Prognosis; D013255:Steroid 21-Hydroxylase / Q000235:genetics*; D013548:Sweden
chemical_list: D013255:Steroid 21-Hydroxylase