Hormonal, Radiological, NP-59 Scintigraphy, and Pathological Correlations in Patients With Cushing's Syndrome Due to Primary Pigmented Nodular Adrenocortical Disease (PPNAD)

• Published in: The journal of clinical endocrinology and metabolism Vol. 100; no. 11; pp. 4332 - 4338
• Main Authors: Vezzosi, Delphine, Tenenbaum, Florence, Cazabat, Laure, Tissier, Frédérique, Bienvenu, Marie, Carrasco, Carmen A, Laloi-Michelin, Marie, Barrande, Gaëlle, Lefebvre, Hervé, Hiéronimus, Sylvie, Tabarin, Antoine, Bertagna, Xavier, Legmann, Paul, Vantyghem, Marie-Christine, Bertherat, Jérôme
• Format: Journal Article
• Language: English
• Published: United States Endocrine Society 01.11.2015; Copyright by The Endocrine Society
• Subjects: Adolescent; Adosterol; Adrenal Glands - diagnostic imaging; Adrenal Glands - metabolism; Adrenalectomy; Adult; Carney Complex - genetics; Cellular Biology; Child; Cushing Syndrome - diagnostic imaging; Cushing Syndrome - metabolism; Cushing Syndrome - surgery; Cyclic AMP-Dependent Protein Kinase RIalpha Subunit - genetics; Endocrinology and metabolism; Female; Hormones - blood; Human health and pathology; Humans; Iodine - metabolism; Life Sciences; Male; Middle Aged; Mutation - genetics; Preoperative Care; Radionuclide Imaging; Radiopharmaceuticals; Thyroid Gland - diagnostic imaging; Thyroid Gland - metabolism; Tissues and Organs; Tomography, X-Ray Computed; Young Adult
• ISSN: 0021-972X; 1945-7197
• DOI: 10.1210/jc.2015-2174

Context: Primary pigmented nodular adrenocortical disease (PPNAD) is a rare cause of ACTH-independent Cushing's syndrome that may occur in an isolated form or as part of Carney complex. The diagnosis of this disease can be difficult preoperatively because computed tomography (CT) scan can be normal or suggest unilateral adrenal lesion, which can impede the correct diagnosis of bilateral adrenal disease. Objective: The aim of our study was to describe the results of preoperative imaging (adrenal [6β-131I]iodomethyl-19-norcholesterol] [NP-59] scintigraphy and standard adrenal CT scan) and their correlations with clinical, pathological, and genetics investigations in patients with PPNAD. Patients and Methods: Seventeen patients with ACTH-independent syndrome due to PPNAD were investigated with a standard adrenal CT scan and NP-59 scintigraphy. Hormonal, pathological, and genetics data were analyzed. Results: Four males and 13 females (median age, 27 y) were included. PPNAD was isolated in 11 patients (with PRKAR1A mutation, n = 7; and without PRKAR1A mutation, n = 4) and was associated with extra-adrenal manifestations of Carney complex in six patients (with PRKAR1A mutation, n = 4; and without PRKAR1A mutation, n = 2). Standard adrenal CT scan revealed micronodules in 11 patients, macronodules in three patients, and was normal in three patients. All patients demonstrated bilateral adrenal radiocholesterol uptake. Adrenal uptake was asymmetrical in 10 of 17 patients (59%). Asymmetrical uptake correlated with the presence of macronodules at pathological analysis (P = .03). Conclusion: Standard adrenal CT scan most often reveals micronodules but there is no specific CT imaging. NP-59 scintigraphy always shows a bilateral adrenal uptake confirming the bilateral nature of the disease, but asymmetrical scintigraphic uptake can be observed in patients with macronodules.