Article
Neonatal complete generalized glucocorticoid resistance and growth hormone deficiency caused by a novel homozygous mutation in Helix 12 of the ligand binding domain of the glucocorticoid receptor gene (NR3C1).
The Journal of clinical endocrinology and metabolism - 1 Jan 2010
McMahon Sarah K, Pretorius Carel J, Ungerer Jacobus P J, Salmon Nathaniel J, Conwell Louise S, Pearen Michael A, Batch Jennifer A
Abstract excerpt
CONTEXT: Glucocorticoid resistance is a rare genetic condition characterized by reduced sensitivity to cortisol signaling and subsequent hyperactivation of the hypothalamic-pituitary-adrenal axis. OBJECTIVE: The objective was to confirm the diagnosis of glucocorticoid resistance in the patient, to determine the degree of suppression of cortisol and ACTH levels in response to dexamethasone, and to determine the...
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