Adrenocorticotropic hormone deficiency

Isolated adrenocorticotropic hormone deficiency (IAD) is a rare disease characterized by low plasma ACTH and cortisol levels and preservation of all other pituitary hormones, that may be an underestimated cause of neonatal death. Recently, loss-of-function mutations in the human TPIT (TBX19) gene were detected in IAD. TPIT is a T-box transcription factor with a specific role in differentiation of the corticotroph lineage. It has been reported that TPIT mutations are responsible for two thirds of neonatal-onset complete IAD but can not be detected in partial or late-onset IAD.