Characterization of a novel variant in the NR3C1 gene: differentiating glucocorticoid resistance from Cushing Syndrome

Primary generalized glucocorticoid resistance syndrome (GGRS) is a rare endocrine disease caused by loss-of-function variants of the NR3C1 gene encoding the Glucocorticoid Receptor. We describe a novel heterozygous missense variant (NM_000176.3, c.1330T>G, p.Phe444Val) within the DNA Binding Domain.