hrp0082p1-d2-10 | Adrenals & HP Axis | ESPE2014

An Unusual Presentation of Isolated ACTH-Deficiency Secondary to TBX19 Mutation Revealed by Late Onset Hypoglycemia Seizure

Valentin Cecile , Saveanu Alexandru , Beltrand Jacques , Netchine Irene

Background: Congenital isolated ACTH deficiency (IAD) is a rare inherited disorder that is clinically and genetically heterogeneous. Patients are characterized by low or absent cortisol production secondary to low plasma ACTH despite normal secretion of other pituitary hormones and the absence of structural pituitary defects. Mutations in the TBX19 gene, a T-box factor selectively expressed in developing corticotroph cells, have been identified so far only in cases of neonatal...