Association of p.His38Leu, a rare CYP21A2 mutation, with the classical simple virilizing phenotype of 21-hydroxylase deficiency in a 6-year-old boy.

Abstract excerpt

BACKGROUND/AIMS: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is one of the most common autosomal recessive disorders. Unequal crossing over or gene conversion between the active CYP21A2 gene and the inactive CYP21A1P pseudogene accounts for 95% of mutations, but many non-pseudogene-derived mutations have been described. It is important for these new mutations to be assigned to a specific...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Adrenal Hyperplasia, Congenital
• Share to Genetic Association Studies