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Purpose: To evaluate the clinical manifestations of Cushing’s Syndrome (CS) and associated genetic mutation in
patients with Primary Pigmented Nodular Adrenocortical Disease (PPNAD).
Methods: Seven family members were screened for mutations of the PRKAR1A gene. Gene mutation screening
used genomic DNA (from peripheral blood leukocytes and, in some cases, adrenal gland tissue) and subsequent
DNA sequencing. The five patients showing genetic mutation were assessed clinically for baseline cortisol and
adrenocorticotropic hormone and adrenal imaging studies (abdominal computed tomography and adrenal
scintigraphy). Low-dose and high-low dexamethasone suppression tests were performed in these five patients.
Results: PRKAR1A gene mutation was detected in five of the seven family members. Four of the five gene
mutation-positive patients presented with overt CS due to pathology-proven PPNAD.
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