ACTH deficiency, isolated
Also found in: Encyclopedia.
ACTH deficiency, isolatedA congenital condition (OMIM:201400) characterised by severe hypoglycaemia in the neonatal period, seizures in about half of cases, prolonged cholestatic jaundice, and very low plasma ACTH levels with no significant response to CRH.
Defects of TBX19, which encodes a T-box DNA-binding transcription regulator of development that activates POMC gene expression, are a cause of isolated ACTH deficiency.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.