Mutation analysis in patients with congenital adrenal hyperplasia in the Spanish population: identification of putative novel steroid 21-hydroxylase deficiency alleles associated with the classic form of the disease.

Abstract excerpt

Steroid 21-hydroxylase deficiency, due to the genetic impairment of the CYP21 gene, is a major cause of congenital adrenal hyperplasia (CAH). In about 80% of the cases, the defect is related with the transfer of deleterious point mutations from the CYP21P pseudogene to the active CYP21 gene. Sixteen different point mutations have been searched for in 60 Spanish patients with the classic form of CAH and 171...

Topics

• Adrenal Hyperplasia, Congenital
• Alleles
• Amino Acid Substitution
• DNA
• DNA Mutational Analysis
• Family Health
• Female
• Gene Frequency
• Humans
• Male
• Mutation