Familial Glucocorticoid Deficiency
Familial glucocorticoid deficiency (FGD1) results from mutations in the G protein-coupled MC2R (MC2R, ACTH receptor; Clark & Weber, 1998; Elias et al., 1999; Fluck et al., 2002; OMIM 607397). Children with this condition usually present with hypoglycaemia and evidence of glucocorticoid insufficiency. Tall stature has also been reported in children with MC2R mutations, but the diagnostic or biological significance of this is unclear (Elias et al., 2000; Fluck et al., 2002). In general, children with ACTH resistance do not need mineralocorticoid replacement in adolescence or adulthood. Therefore, identifying MC2R mutations in patients with childhood adrenal failure can be useful in predicting the need for long-term mineralocorticoid replacement, when previous biochemical data have been equivocal.
Clin Endocrinol. 2004;60(5) © 2004 Blackwell Publishing
Cite this: Inherited Adrenal Hypoplasia: Not Just for Kids! - Medscape - May 01, 2004.