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Primary pigmented nodular adrenocortical disease (PPNAD) causes adrenocorticotropic hormone (ACTH)‐independent Cushing’s syndrome (CS), which is the most frequent endocrine manifestation of Carney complex (CNC).[1] In the disease process of PPNAD, both presadrenal glands are involved and feature small brown‐black nodules separated by the atrophic adrenal cortex. Endocrine lesions in CNC include testicular neoplasms, PPNAD, growth hormone (GH) and prolactin‐producing pituitary tumors, and thyroid cancer.[2] It is a genetically heterogeneous autosomal dominant disease. Mutations of the regulatory subunit type 1A of the cAMP‐dependent protein kinase (PRKAR1A) gene are found in nearly 60% of individuals with CNC, whereas an uncharacterized gene at the CNC2 locus on chromosome 2p16 is similarly implicated in disease pathogenesis.[2] Here, we present the case of a Chinese young girl with PPNAD.

A Novel Mutation of PRKAR1A Caused Carney Complex in a Chinese Patient