Combined 21-hydroxylase and 11beta-hydroxylase deficiency: patient report and molecular basis.

Abstract excerpt

A female newborn (46, XX) with ambiguous genitalia was initially diagnosed by biochemical criteria as having classical congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency. Shortly after effective treatment was administered, she developed a salt-wasting crisis with severe electrolyte imbalance. DNA analysis revealed a homozygous splice mutation in the second intron of the CYP21 gene, for which...

Topics

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

• Share to Adrenal Hyperplasia, Congenital
• Share to Base Sequence