A New Gene Mutation of PRKAR1A was found in a Carney Complex Case

Purpose Primary Pigmented Nodular Adrenocortical Disease (PPNAD) is a rare bilateral adrenocortical hyperplasia, inherited in an autosomal dominant fashion, resulting in a pro-adrenocorticotropic non-dependent Cushing's syndrome. PPNAD may be isolated or associated with Carney complex (CNC). For the diagnosis of PPNAD and CNC, a search for PRKAR1A mutations may be recommended in addition to hormonal and imaging tests. The purpose of this study was to investigate the clinical features, diagnosis and treatment of the new pathogenic mutations in the PRKAR1A gene causing Carney complex. Methods We report here a case of a patient whose clinical data were retrospectively analyzed. Results The 13-year-old patient was diagnosed with Carney complex through a series of tests and a new causative gene mutation locus (C.1-2942G>A) was identified. Conclusion Carney complex is usually more difficult to be diagnosed at an early stage in the clinic, and it is beneficial for clinicians to raise awareness of the disease for early recognition and timely intervention.