Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Definition

The most common form of congenital adrenal hyperplasia (CAH), characterized by simple virilizing or salt wasting forms that can manifest with genital ambiguity in females and with adrenal insufficiency (in both sexes), and that presents with dehydration, hypoglycemia in the neonatal period (that can be lethal if untreated), and hyperandrogenia.

Also known as 21-OHD, classic 21-OHD CAH, classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency — per MONDO

Also identified as

• MESH C535979 per MONDO
• NCIT C131087 per MONDO
• OMIM 201910 per MONDO
• Orphanet 90794 per MONDO
• SCTID 124221007 per MONDO
• SCTID 717261006 per MONDO
• UMLS C4273964 per MONDO

Affected Organs