Article
Natural glucocorticoid receptor mutants causing generalized glucocorticoid resistance: molecular genotype, genetic transmission, and clinical phenotype.
The Journal of clinical endocrinology and metabolism - 1 Apr 2004
Charmandari Evangelia, Kino Tomoshige, Souvatzoglou Emmanuil, Vottero Alessandra, Bhattacharyya Nisan, Chrousos George P
Abstract excerpt
Glucocorticoid resistance is a rare, familial, or sporadic condition characterized by partial end-organ insensitivity to glucocorticoids. The clinical spectrum of the condition ranges from completely asymptomatic to severe hyperandrogenism, fatigue, and/or mineralocorticoid excess. The molecular basis of glucocorticoid resistance in several families and sporadic cases has been ascribed to mutations in the human...
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