Searchable abstracts of presentations at key conferences in endocrinology

ea0035p27 | Adrenal cortex | ECE2014

A three generation family with low cortisol, CBG deficiency, chronic fatigue and pain, lipomatosis and behavioral alterations

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...