ea0035p27 | Adrenal cortex | ECE2014
Moia Stefania
, Walker Gillian Elisabeth
, Roccio Marta
, Ricotti Roberta
, Giglione Enza
, Bellone Simonetta
, Fanelli Flaminia
, Bona Gianni
, Prodam Flavia
Introduction: CBG is the main transport protein for glucocorticoids in blood. CBG gene is a member of the serine protease inhibitor family, located at chromosome 14q32. Inherited CBG deficiency (MIM 611489) is a rarely recessive disorder, and the phenotype associated includes low cortisol levels, presence of normal ACTH levels, hypotension and fatigue, although the exact pathophysiological mechanisms involved remain uncertain. We identified a family with a complex phe...