Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency.

Abstract excerpt

CONTEXT: Congenital adrenal hyperplasia resulting from 17alpha-hydroxylase deficiency (17OHD) is a rare disorder associated with hypertension. SUBJECT AND METHODS: We describe a phenotypically and hormonally affected female patient with 17OHD. DNA sequencing of her CYP17 gene revealed a maternal heterozygous mutation in exon 2 (R125Q) and a paternal heterozygous mutation in exon 8 (R416H). These are novel...

Topics

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

• Share to Adrenal Hyperplasia, Congenital
• Share to Mutation