Catalog

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency

No MMS code

Link to WHO Definition

Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency – http://id.who.int/icd/entity/587903316

This refers to any of several autosomal recessive diseases resulting from mutations of genes for enzymes mediating the biochemical steps of production of cortisol from cholesterol by the adrenal glands (steroidogenesis). This diagnosis is due to 17-alpha-hydroxylase deficiency.