hrp0097p1-203 | Adrenals and HPA Axis | ESPE2023

Adrenal insufficiency due to bioinactive ACTH caused by novel POMC variants

Illiano Sara , Vasaturo Sara , Andolfo Immacolata , Russo Roberta , Di Mase Raffaella , Moracas Cristina , Salerno Mariacarolina , Capalbo Donatella

Introduction: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by ACTH-resistant isolated cortisol deficiency. FGD usually presents with hypoglycemia, convulsions, prolonged jaundice, and marked skin hyperpigmentation in the early period of life. Several defects in MC2R, MRAP, MCM4, NNT, and TXNRD2 genes are related to FGD. In all these situations, plasma ACTH is high. By contrast, all reported cases of glucocorticoi...