Late Diagnosis of POMC Deficiency and In Vitro Evidence of Residual Translation From Allele With c.-11CA Mutation

摘要

AbstractContext:Loss-of-function mutations in the POMC gene are associated with a syndrome with the characteristics of adrenal insufficiency, obesity, and red hair. We describe here a case of pro-opiomelanocortin (POMC) deficiency in which adrenal insufficiency was not treated until the fourth year of life. One of the disease-causative POMC mutations was characterized in vitro using a unique approach.