hrp0084p2-166 | Adrenals | ESPE2015

Late Diagnosis of Adrenal Insufficiency Caused by Novel Compound Heterozygous Mutations in Proopiomelanocortin

Frolova Elena , Shirokova Irina , Karpova Svetlana , Kolodkina Anna , Makretskaya Nina , Tiulpakov Anatoly

Background: Proopiomelanocortin (POMC) deficiency is characterised clinically by adrenal insufficiency, obesity and red hair. As a rule, such patients present early in life with severe hypoglycemia, which leads to initiation of glucocorticoid therapy. We describe here a case of POMC deficiency, where adrenal insufficiency was not diagnosed until the fourth year of life.Objective and hypotheses: To present a case of late diagnosis of POMC deficiency and c...