ea0059cc2 | Featured Clinical Cases | SFEBES2018
Maudhoo Ashwini
, Maharaj Avinaash
, Buonocore Federica
, Martos-Moreno Gabriel Angel
, Argente Jesus
, Achermann John
, Chan Li
, Metherell Lou
Background: Congenital isolated ACTH deficiency (IAD) is a rare condition characterised by low plasma ACTH and serum cortisol with normal production of other pituitary hormones. TBX19 is a T-box pituitary restricted transcription factor important for POMC gene transcription and terminal differentiation of POMC-expressing cells. TBX19 gene mutations have been shown to cause neonatal-onset congenital IAD. To date 25 mutations in TBX19 have been described, five ...