Bioinactive ACTH causing glucocorticoid deficiency.
Endocrinology Service and Research Center, Centre Hospitalier Universitaire Sainte-Justine, Department of Pediatrics, University of Montreal, Montreal H3T 1C5, Canada.
A 4-year-old girl and a 4-month-old boy presented with hypoglycemia, normal electrolytes, low cortisol, and high ACTH. A diagnosis of primary adrenal insufficiency was made and initial treatment was with glucocorticoids and mineralocorticoids. The genes known to cause ACTH resistance were normal. Whole exome sequencing revealed that the girl was compound heterozygous for POMC mutations: one previously described null allele and one novel p.R8C mutation in the sequence encoding ACTH and α-MSH. The boy was homozygous for the p.R8C mutation.
J. Clin. Endocrinol. Metab. 2013;98(2):736-42.
Pubmed ID: 23293326