ESPE2015 Poster Category 3 Adrenals (47 abstracts)
A Case of ACTH Resistance with Generalized Hyperpigmentation at Birth
Takako Sasasaki a , Amano Naoko b , Satoshi Narumi b , Tomonobu Hasegawa b , Mai Tomita a, , Okada jyunichirou c , Yatsuga Shuichi a & Yasutoshi Koga a
aDepartment of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Japan; bDepartment of Pediatrics, Keio University School of Medicine, Tokyo, Japan; cDepartment of Pediatrics, St Mary’s Hospital, Kurume, Japan
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.
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