hrp0086p1-p5 | Adrenal P1 | ESPE2016

Whole Exome Sequencing in Patients with Primary Generalized Glucocorticoid Resistance, who did not have Mutations in the NR3C1 Gene

Sertedaki Amalia , Polyzos Alexandros , Nicolaides Nicolas , Thanos Dimitris , Charmandari Evangelia

Background: Primary generalized glucocorticoid resistance (PGGR) is a rare, familial or sporadic condition, characterized by generalized, partial tissue insensitivity to glucocorticoids. The molecular basis of this condition has been ascribed to mutations in the NR3C1 (human glucocorticoid receptor, hGR) gene, which impair the molecular mechanisms of hGR action and decrease tissue sensitivity to glucocorticoids. However, a considerable number of patients with PGGR do ...

hrp0086fc1.2 | Adrenals | ESPE2016

Transcriptomic Analysis in Healthy Subjects with Differences in Tissue Sensitivity to Glucocorticoids Identifies Novel Disease-associated Genes

Nicolaides Nicolas C. , Polyzos Alexandros , Koniari Eleni , Lamprokostopoulou Agaristi , Golfinopoulou Eleni , Papathanasiou Chryssanthi , Sertedaki Amalia , Thanos Dimitris , Charmandari Evangelia

Background: Glucocorticoids exert profound immune-modulating effects and regulate the expression of genes involved in cell cycle progression and apoptosis. Synthetic glucocorticoids are the most potent agents used in the treatment of inflammatory, autoimmune and lymphoproliferative disorders. Considerable variation in response to therapeutic doses of glucocorticoids exists among individuals, as evidenced by differences both in disease response and in the incidence of glucocort...