PRIMARY PIGMENTED NODULAR ADRENOCORTICAL DISEASE

PRKAR1A, PDE8B AND PDE11A GENE ANALYSIS

Primary pigmented nodular adrenocortical disease (PPNAD) is a form of bilateral adrenocortical hyperplasia that is often associated with corticotrophin (ACTH)-independent Cushing’s syndrome (CS) and is characterized by small to normal-sized adrenal glands containing multiple small cortical pigmented nodules.  PPNAD may occur in an isolated form or associated with a multiple neoplasia syndrome, the complex of spotty skin pigmentation, myxomas, and endocrine overactivity, or Carney complex, in which Cushing’s syndrome is the most common endocrine manifestation.

Molecular studies have led to the identification of variants in the PRKAR1A, PDE11A and PDE8B genes (Groussin et al. 2002 J Clin Endocrinol Metab 87:4324–4329; Horvath et al. Nature Genetics 2006 38:794-800; Rothenbuhler et al. 2012 Clin Endocrinol 77:195–199).

The laboratory participates in the European Molecular Genetics Quality Network (EMQN) sequencing scheme.