ABSTRACT
This chapter presents a state of the art summary of Carney complex (CNC) relation to its biology, epidemiology, disease mechanisms, clinical signs, diagnosis, treatment and prognosis. First described in 1985 by J. Aidan Carney as a complex of myxomas, spotty skin pigmentation, and endocrine overactivity, CNC is a rare autosomal dominant syndrome linked to mutations in the α regulatory subunit of protein kinase A gene and with a heightened risk of developing various endocrine and non-endocrine tumors and lesions. Transmission of CNC through a female affected parent is almost fivefold more frequent than through a male due possibly to the fact that male patients often harbor large-cell calcifying Sertoli cell tumorsthat may cause infertility. A diagnosis of CNC is made when a patient has either two of the major clinical criteria confirmed by histology, imaging, or biochemical testing, or one major clinical criterion and one supplemental criterion.
