Molecular genetics of congenital adrenal hyperplasia (21-hydroxylase deficiency): implications for diagnosis, prognosis and treatment.

Abstract excerpt

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...

Topics

• Adrenal Hyperplasia, Congenital
• Alleles
• Chromosomes, Human, Pair 6
• Genotype
• Humans
• Infant, Newborn
• Phenotype
• Polymorphism, Genetic
• Prognosis
• Steroid 21-Hydroxylase
• Sweden