Searchable abstracts of presentations at key conferences in endocrinology

ea0014p279 | (1) | ECE2007

Family mutation of PRKRA1A associated with Cushing syndrome from pigmented micronodular adrenal dysplasia

Gentil Alfonso , Martin Tomas , Díaz Galvez Milagrosa , Maraver Silvia , Lucas Miguel

Introduction: Pigmented micronodular adrenal dysplasia (PMNAD) is an infrequent cause of Cushing syndrome ACTH-independent, and can form a part of Carney syndrome (CS). In both, regulatory subunit mutations of the protein kinase A (PRKAR1A) have been demonstrated, but without apparent genotype-phenotype correlation.Objective: To demonstrate the mutation of PRKAR1A and its functional and clinical expression in a family affected with PMNAD.<p class="ab...