Delphine Vezzosi1, Florence Tenenbaum1, Laure Cazabat1, Frédérique Tissier1, Marie Bienvenu1, Carmen A Carrasco1, Marie Laloi-Michelin1, Gaëlle Barrande1, Hervé Lefebvre1, Sylvie Hiéronimus1, Antoine Tabarin1, Xavier Bertagna1, Paul Legmann1, Marie-Christine Vantyghem1, Jérôme Bertherat1. 1. Institut National de la Santé et de la Recherche Médicale U1016 (D.V., L.C., F.T., C.A.C., X.B., J.B.), Centre Nationale de Recherche Scientifique 8104, Université Paris Descartes, Institut Cochin, Paris, 75014 France; Service d'Endocrinologie et Maladies Métaboliques, Pôle Cardio-Vasculaire et Métabolique, Centre Hospitalier Universitaire Larrey, 31059 Toulouse; Université Toulouse III Paul Sabatier, 31062 Toulouse; Unité Mixte de Recherche, INSERM, 1037 (D.V.), Centre de Recherche en Cancérologie de Toulouse, 31432 Toulouse, France; Service de Médecine Nucléaire (F.T.), Hôpital Cochin, 75014, Paris, France; Service d'Endocrinologie, Centre Hospitalier Universitaire Ambroise Paré, Assistance Publique Hôpitaux de Paris, Boulogne, France; EA2493, UFR de la Santé Simone Veil (L.C.), Université Versailles St Quentin, Montigny le Bretonneux, France; Service d'Anatomopathologie (F.T.), Assistance Publique Hôpitaux de Paris, Hôpital de la Pitié Salpétrière, Université Pierre et Marie Curie, 75010, Paris, France; Service de Radiologie (M.B., P.L.), Hopital Cochin, 75014, Paris, France; Departamento de Endocrinología (C.A.C.), Facultad de Medicina, Pontificia Universidad Católica de Chile, 8331150, Santiago, Chile; Service de Médecine Interne B (M.L.M.), Assistance Publique Hôpitaux de Paris, Hôpital Lariboisière, Paris, France; Service d'Endocrinologie, Centre Hospitalier Victor Dupouy, 95107 Argenteuil, France (G.B.); Service d'Endocrinologie (H.L.), Institute for Research and Innovation in Biomedicine, Centre Hospitalier Universitaire de Rouen, 76031 Rouen, France; Service d'Endocrinologie (S.H.), de Diabetologie et de Médecine de la Reproduction, Hôpital L'Archet, 06200 Nice, France; Service d'Endocrinologie et Maladies Metaboliques (A.T.), Centre Hospitalier Universitaire de Bordeaux, Hopital du Haut Leveque, 33600 Pessac, France; Service d'Endocrinologie (X.B., J.B.), Hopital Cochin, 75014 Paris, France; Service d'Endocrinologie et Métab
Abstract
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-(131)I]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.
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-(131)I]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.
Authors: G Vitellius; B Donadille; B Decoudier; A Leroux; S Deguelte; S Barraud; J Bertherat; B Delemer Journal: Endocrine Date: 2022-08-04 Impact factor: 3.925
Authors: Iosif A Mendichovszky; Andrew S Powlson; Roido Manavaki; Franklin I Aigbirhio; Heok Cheow; John R Buscombe; Mark Gurnell; Fiona J Gilbert Journal: Diagnostics (Basel) Date: 2016-11-18
Authors: Ozgur Mete; Lori A Erickson; C Christofer Juhlin; Ronald R de Krijger; Hironobu Sasano; Marco Volante; Mauro G Papotti Journal: Endocr Pathol Date: 2022-03-14 Impact factor: 4.056