Catalog

Congenital adrenal hyperplasia due to side-chain cleavage enzyme deficiency

No MMS code

Link to WHO Definition

Congenital adrenal hyperplasia due to side-chain cleavage enzyme deficiency – http://id.who.int/icd/entity/2147137083

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 side-chain cleavage enzyme deficiency.