Searchable abstracts of presentations at key conferences in endocrinology

ea0056gp19 | Adrenal Case reports | ECE2018

Nonclassical congenital adrenal hyperplasia in a young patient with Type 1a Glycogen storage disease: is there a novel link between glucose metabolism and adrenal steroidogenesis?

Kandaraki Eleni , Papalou Olga , Spyridon Dourakis , Konstantoulakis Pantelis , Diamanti-Kandarakis Evanthia

Introduction: Glycogen storage disease type Ia is a rare genetic disorder that develops due to deficient activity of the enzyme glucose 6-phosphatase and manifests clinically early in life with hypoglycemia and failure to thrive, as well as with organ dysfunction, due to excess glycogen accumulation, including hepatomegaly and kidney dysfunction. Endocrine manifestations are commonly encountered in these patients. However, due to their rarity, endocrine dysfunction has not bee...