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 hyperpigmentation at birth.
Method: Known genes associated with primary adrenal insufficiency were screened with use of next-generation targeted sequencing. The identified MC2R mutations were validated by conventional PCR-based sequencing.
Results: Genetic analyses revealed compound heterozygous mutations: p.Asp103Asn and p.Gly226Arg. These mutations were previously reported in patients with ACTH resistance.
Discussion: Most ACTH resistance patients were diagnosed after age 2 days due to developing of adrenal insufficiency-related symptoms (hypoglycaemia, seizures, and poor weight gain), while three patients were diagnosed during the neonatal period including our case.
Conclusion: When we see neonates presenting symptoms suggesting adrenal insufficiency and hyperpigmentation, MC2R mutation should be considered as a differential diagnosis.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology