Primary Pigmented Nodular Adrenocortical Disease (PPNAD) Presenting as ACTH-Independent Cushing’s Syndrome: A CaseReport

Abstract

Cushing’s syndrome diagnosis in childhood is a challenge, due to its atypical presentation. Primary Pigmented Nodular Adrenocortical Disease (PPNAD) is a rare cause of ACTH- independent Cushing’s Disease. We present the case of a four-year-old patient evaluated for Cushing’s Syndrome due to a rapid onset of obesity, pubarche and hirsutism with a characteristic phenotypic appearance. Initial biochemical examinations were compatible with ACTH- independent Cushing’s Syndrome, but imaging studies were confusing (pituitary MRI detected an image compatible with adenoma). The study was completed with tests
which confirmed independence from ACTH and finally the patient underwent a bilateral adrenalectomy. The anatomopathological findings of adrenal glands confirmed the diagnosis. Replacement hormonal treatment was applied, leading to the progressive recovery of a normal phenotype.