ESPE Abstracts

Background: The MC2R gene (MC2R) encodes the receptor for ACTH, and MC2R mutations cause ACTH resistance. We describe a MC2R mutation-carrying ACTH resistance patient, who exhibited generalized hyperpigmentation at birth.Objective and hypotheses: The MC2R encodes the receptor for ACTH, and MC2R mutations cause ACTH resistance. We describe a MC2R mutation-carrying ACTH resistance patient, who exhibited generalised hyperpigmentat...