ACTH deficiency, isolated


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ACTH deficiency, isolated

A 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.
 
Molecular pathology
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.