MON-368 Familial Glucocorticoid Deficiency Type I with New MC2R Mutation: Presentation of a Pediatric Patient with Oral Mucosal Hyperpigmentation

Abstract

Familial Glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder in which the adrenal cortex fails to produce glucocorticoids in response to ACTH, but with preservation of mineralocorticoid activity. It is caused by mutations in the melanocortin 2 receptor (MC2R), and thus far over 40 mutations reported. Here we report a new homozygous missense mutation in the MC2R gene [c.536C>T, p.(Thr179Met)] in a young female who presented with mucosal hyperpigmentation.