Endocrine Abstracts

Introduction: Carney Complex (CNC) is a rare syndrome characterized by multiple endocrine and non-endocrine tumors, which may be accompanied by macular pigmentation of the skin. This is an autosomal dominant disorder with high penetrance and heterogeneous expression. It is caused by inactivating pathogenic variants in the PRKAR1A gene in over 70% of cases which encodes the regulatory type 1 alpha subunit of protein kinase A. Diagnosis is made by identifying specific criteria. ...