[Clinical and molecular research in a case of familial Carney complex].

OBJECTIVE: A case of primary pigmented nodular adrenal disease (PPNAD) was first diagnosed in Ruijin Hospital, Shanghai, China and molecular genetic research was then carried on the proband and his family members. METHODS: History and laboratory tests were routinely taken. Liddle's test, adrenal CT and pituitary magnetic resonance imaging were also carried out. Complete family history was obtained and eight of the family members donated their blood for DNA extraction. Polymerase chain reaction was done on all the exons of PRKAR1A gene and the product of the reaction was sequenced with ABI 3700. The right adrenal of the patient was then resected, part of the tissue was preserved in liquid nitrogen for DNA/RNA extraction and the remaining sent to Department of Pathology. RESULTS: The patient presented an atypical appearance of Cushing's syndrome. His father had a typical history of cardiac myoma. Cortisone level could not be refrained in Liddle's test for the patient. Imaging examination presented a nodular adrenal and a full pituitary. A novel mutation of PRKAR1A-S147N was found in both the patient's and his father's gene. CONCLUSIONS: This is the first patient diagnosed as PPNAD based on his clinical manifestations, laboratory tests and imaging and pathological examinations. According to the history of his father and the results of molecular genetic analysis, the diagnosis of Carney complex can be established on this patient and his father. It is also the first time that this kind of point mutation was found in Chinese people.