Cyclic Cushing syndrome and endocrine disorders in two children with Carney complex.

Abstract

Carney complex (CC) is characterized by myxomas, pigmented skin lesions, and endocrine hyperactivity, with a predisposition to tumors. Primary pigmented nodular adrenocortical disease (PPNAD) is notable, manifesting with subclinical, progressive, or cyclical symptoms of Cushing's syndrome (CS) caused by endogenous adrenocorticotropic hormone-independent hypercortisolism, and characterized by a paradoxical increase in urinary free cortisol after a corticosteroid suppression test. PPNAD should be suspected in patients with cyclic CS, and its association with CC should be considered. In cases of strong clinical suspicion, a suppression test should be performed to demonstrate the characteristic paradoxical response and ensure an early diagnosis to avoid the long-term repercussions of hypercortisolism. We describe two patients with clinical and molecular diagnosis of CC who presented with PPNAD with a characteristic biochemical pattern treated with bilateral adrenalectomy in both cases.