A Novel <scp> <i>NR3C1</i> </scp> Frameshift Variant Associated With Familial Glucocorticoid Resistance Syndrome: An Integrated Analysis of Steroid Profiling and Structural Modeling

Abstract excerpt

Glucocorticoid resistance syndrome (GRS) is a rare hereditary disorder caused by pathogenic variants in NR3C1, characterized by marked phenotypic heterogeneity and frequent misdiagnosis as primary aldosteronism or subclinical Cushing's syndrome. We report a family harboring a novel NR3C1 frameshift variant and provide an integrated characterization of its clinical and biochemical features. By combining structural...

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