Divergent phenotype of two siblings human leukocyte antigen identical, affected by nonclassical and classical congenital adrenal hyperplasia caused by 21-hydroxylase deficiency.

Abstract excerpt

CONTEXT: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders most often caused by enzyme 21-hydroxylase deficiency. Most mutations causing enzymatic deficiency are generated by recombinations between the active gene CYP21 and the pseudogene CYP21P. Only 1-2% of affected alleles result from spontaneous mutations. The phenotype of CAH varies greatly, usually classified as classical or...

Topics

• Adrenal Hyperplasia, Congenital
• Child
• Chromosome Aberrations
• Female
• Gene Rearrangement
• HLA Antigens
• Histocompatibility Testing
• Humans
• Male
• Phenotype