French national reference center for rare adrenal diseases
The reference center for rare adrenal diseases (CRMRS) was accredited in october 2005 and then renewed in 2017 and is coordinated by Pr Jérôme Bertherat. It includes :
- A coordinating site : endocrinology and metabolic diseases department of Pr Jérôme Bertherat, Hôpital Cochin, 75014 Paris.
- A constituent site : hypertension unit of Professor Laurence Amar, hypertension department of Professor Michel Azizi, Georges-Pompidou European Hospital, 75015 Paris.
We are involved in diagnosis and treatment. We also have a clinical research activity on these diseases. The center allows the collaboration of the different specialists necessary for the management of the disease.
This reference center is affiliated with the FIRENDO rare diseases healthcare network and the ENDO-ERN network(European reference network on rare endocrine conditions).
> Consult the website of the French society of endocrinology (SFE)
Keywords : Adrenal, cortisol, ACTH, aldosterone, adrenaline, incidentaloma, Cushing, Conn, pheochromocytoma, Addison, corticotropic insufficiency, adenoma, adrenocortical carcinoma, adrenal insufficiency, congenital adrenal hyperplasia, adrenal adenoma, corticotropic adenoma, Carney complex.
The national diagnostic and care protocol (PNDS) on Cushing syndrome elaborated by the reference center fo rare adrenal diseases (CRMRS) was published on the website of the French National Authority for Health (HAS) on March 23, 2023. It is accessible by clicking on the image above.
Medical team
Reference center coordinator
Pr Jérôme Bertherat
MD, PhD
Contact us
Consultation appointment
Phone. +33 (0)1 58 41 19 19
Important information : A letter from your doctor will be required.
In case of emergency
I am being followed medically for adrenal insufficiency :
I am being followed for a pheochromocytoma and/or a paraganglioma :
The reference center for rare adrenal diseases gathers a hospital team within which different specialties collaborate, with expertise in rare adrenal diseases, integrating medical, paramedical, psychological, social and educational skills. It develops its activities in the fields of care, teaching and training, and research.
The missions are :
- coordination of the care network,
- expertise in rare adrenal diseases,
- recourse,
- teaching and training,
- research.
The diseases concerned are many and varied :
- Primary adrenal insufficiency or Addison disease : autoimmune, isolated or in the context of autoimmune polyendocrinopathies type I or II, combining diabetes, hypothyroidism, ovarian insufficiency, hypoparathyroidism, vitiligo, etc. ; infectious (tuberculosis or other); infiltrative (neoplastic); iatrogenic (bilateral adrenalectomy, mitotane, etc.) ; genetic (glucocorticoid resistance syndromes, adrenoleukodystrophy, Allgrove syndrome, SF-1, DAX…).
- Secondary adrenal insufficiency or corticotropic insufficiency (corticosteroid therapy, hypothalamic-pituitary pathologies of various causes).
- Adrenal enzyme deficiencies, also called congenital adrenal hyperplasia (21 hydroxylase deficiency, 11-beta hydroxylase deficiency, 3 beta hydroxysteroid dehydrogenase deficiency,…)
- Cushing’s syndrome (Cushing’s disease, Nelson’s syndrome, endocrine tumors with ectopic ACTH secretion, adrenocortical carcinoma, adrenal adenoma, bilateral macronodular adrenal hyperplasia, Cushing’s syndrome in Carney complex, to Mc Cune-Albright syndrome,…)
- Primary hyperaldosteronism (Conn’s adenoma, bilateral hyperplasia of the zona glomerulosa)
- Sporadic Pheochromocytoma and paraganglioma or in the context of MEN2, VHL, NF1, mutations in the SDH, …
- Pr Jérôme Bertherat – Coordinator of the reference center, endocrinologist, MD, PhD
- Dr Laurence Guignat – Endocrinologist, MD
- Pr Guillaume Assié – Endocrinologist, MD, PhD
- Pr Lionel Groussin – Endocrinologist, MD, PhD
- Dr Rossela Libe – Endocrinologist, MD
- Julie Garnon – Health executive
- Charlotte de Bucy – Psychologist
- Laure Chartain – Social worker
Living with adrenal insufficiency requires you to constantly adapt. Identifying your symptoms, adapting your treatments, dealing with risky situations, managing your stress, knowing how to give your hydrocortisone injection : all this is your daily life.
CAP Surrénales is an application that will allow you to practice, after the therapeutic education workshops, on all these topics.
This application was developed by Dr Laurence Guignat (Reference center for rare adrenal diseases – Endocrinology, Cochin hospital, Paris) and Edusanté, based on the therapeutic education kit CAP Surrénales.
The drafters of the PNDS are subject to the obligation to produce a public declaration of interests.
Cushing syndrome PNDS
Pr Jérôme Bertherat – Public declaration of interest
Dr Mona Negrea – Public declaration of interest
Pr Guillaume Assié – Public declaration of interest
Pr David Taieb – Public declaration of interest
Dr Delphine Gaye – Public declaration of interest
Dr Bertrand Baussart – Public declaration of interest
Dr Christophe Bardin – Public declaration of interest
Dr Delphine Drui – Public declaration of interest
Dr Frédéric Illouz – Public declaration of interest
Dr Fideline Bonnet-Serrano – Public declaration of interest
Dr Florence Tenenbaum – Public declaration of interest
Dr Laurence Guignat – Public declaration of interest
Dr Marie Laure Raffin Sanson – Public declaration of interest
Dr Olivier Chabre – Public declaration of interest
Dr Pascal Barat – Public declaration of interest
Dr Stephan Gaillard – Public declaration of interest
Dr Véronique Lapras – Public declaration of interest
Dr Véronique Raverot – Public declaration of interest
Dr Jean-Benoît Corcuff – Public declaration of interest
Charlotte de Bucy – Public declaration of interest
Laure Chartrain – Public declaration of interest
Nathalie Colin – Public declaration of interest
Dr Agop Kahvedjian – Public declaration of interest
Pr Françoise Borson-Chazot – Public declaration of interest
Pr Agnès Linglart – Public declaration of interest
Pr Bertrand Dousset – Public declaration of interest
Pr Frédéric Castinetti – Public declaration of interest
Pr Gerald Raverot – Public declaration of interest
Pr Henry Dufour – Public declaration of interest
Pr Elif Hindie – Public declaration of interest
Pr Jacques Young – Public declaration of interest
Pr Laeticia Martinerie – Public declaration of interest
Pr Antoine Tabarin – Public declaration of interest
Pr Thierry Brue – Public declaration of interest
Pr Yves Reznik – Public declaration of interest
Pr Anthony Dohan – Public declaration of interest
Non-industrial projects
- Primary Pigmented Nodular Adrenocortical Disease (PPNAD) and the CARNEY Complex (CNC) (EVACARNEY) – NCT00668291 – Finalized
- Cushing’s Disease Complications (COMPLICUSHING) – NCT02568982 – Finalized
- Towards an Easy-to-use Adrenal Cancer/Tumor Identity Card (COMETETACTIC) – NCT02672020 – Finalized
- Surgery of Subclinical Cortisol Secreting Adrenal Incidentalomas (CHIRACIC) – NCT02364089 – In progress
- Pattern of Gene Expression in Adipose Tissue From Patients With Cushing Syndrome (LIPOCUSH) – NCT01688349 – Finalized
- Omics markers of adrenal causes of hypertension – ENSAT-HT (H2020) – In progress
- Pathophysiology of the Carney complex – ANR Blanc DevMiCar contract – Finalized
- cAMP and adrenal Cushing – E-Rare GOSAMPAC European contract – Finalized
- Pathophysiology of macronodular adrenal hyperplasia – French-Brazilian contract FASPEP-ANR GAPMAH – In progress
- Studies of steroidal and molecular profiles of adrenal Cushing – ANR Steroidomics contract – In progress
- Study of the function of genes responsible for macronodular adrenal hyperplasia – Foundation for medical research team contract – In progress
Industrial projects
- Safety and Efficacy of LCI699 for the Treatment of Patients With Cushing’s Disease Sponsor: Novartis Pharmaceuticals – NCT02180217 – Finalized
- Safety and Efficacy of LCI699 in Cushing’s Disease Patients. Sponsor: Novartis Pharmaceuticals – NCT01331239 – Finalized
- Ketoconazole in Cushing’s syndrome – Ketopass, HRA RD – In progress
- Safety and Efficacy of long term LCI699 in Cushing’s Disease Patients. Sponsor: Recordati rare diseases – In progress
- Autoimmune diseases UD
University of Paris - Endocrinology and metabolism of the transition IUD
University of Paris, Sorbonne university - Infection management and supportive care in onco-hematology (GISCOH): Adrenal insufficiency in oncology
Universities of Paris Saclay, Paris-Est Créteil Val de Marne (UPEC) - Endocrine tumors IUD
University of Paris, Paris Saclay university - Oncogenetics IUD
University of Paris, Sorbonne university - Nephro-urological imaging IUD
Universities of Paris, Lille, Strasbourg, Nancy, Tours, Lyon, Marseille, Montpellier, Bordeaux, Toulouse
2021
– Update on primary bilateral macronodular adrenal hyperplasia (PBMAH).
Bouys L, Chiodini I, Arlt W, Reincke M, Bertherat J.
Endocrine, 2021 Mar, PMID: 33587256 DOI: 10.1007/s12020-021-02645-w
– Management of endocrine disease : Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene.
Bouys L, Bertherat J.
Eur J Endocrinol, 2021 Mar, PMID: 33444222 DOI: 10.1530/EJE-20-1120
– Genomic classification of benign adrenocortical lesions.
Faillot S, Foulonneau T, Néou M, Espiard S, Garinet S, Vaczlavik A, Jouinot A, Rondof W, Septier A, Drougat L, Hécale-Perlemoine K, Ragazzon B, Rizk-Rabin M, Sibony M, Bonnet-Serrano F, Guibourdenche J, Libé R, Groussin L, Dousset B, de Reyniès A, Bertherat J, Assié G.
Endocr Relat Cancer, 2021 Jan, PMID: 33151900 DOI: 10.1530/ERC-20-0128
– A pheochromocytoma wrapped in an IgG4-related disease.
Anne-Cécile Paepegaey, Anne-Segolene Cottereau, Anthony Dohan, Sébastien Gaujoux, Marie-Francoise Triller, Mathilde Sibony, Lionel Groussin, Rossella Libé
Eur J Nucl Med Mol Imaging, 2021 Mar, PMID: 32671453 DOI: 10.1007/s00259-020-04959-9
– CRH-Receptor Molecular Imaging Reveals the Intimacy of Corticotroph Adenomas.
Jérôme Bertherat
J Clin Endocrinol Metab, 2021 Mar 25, PMID: 33382418 DOI: 10.1210/clinem/dgaa883
– MANAGEMENT OF ENDOCRINE DISEASE: Carney complex: clinical and genetic update 20 years after the identification of the CNC1 (PRKAR1A) gene.
Lucas Bouys, Jérôme Bertherat
Eur J Endocrinol, 2021 Mar, PMID: 33444222 DOI: 10.1530/EJE-20-1120
– Rapid control of severe ectopic Cushing »s syndrome by oral osilodrostat monotherapy.
Laura Bessiène, Fidéline Bonnet, Florence Tenenbaum, Mathieu Jozwiak, Anthony Corchia, Jérôme Bertherat, Lionel Groussin
Eur J Endocrinol, 2021 May, PMID: 33667191 DOI: 10.1530/EJE-21-0147
– Corticotroph tumor progression after bilateral adrenalectomy (Nelson »s syndrome): systematic review and expert consensus recommendations.
Martin Reincke, Adriana Albani, Guillaume Assie, Irina Bancos, Thierry Brue, Michael Buchfelder, Olivier Chabre, Filippo Ceccato, Andrea Daniele, Mario Detomas, Guido Di Dalmazi, Atanaska Elenkova, James Findling
Eur J Endocrinol, 2021 Mar, PMID: 33444221 PMCID: PMC8060870 DOI: 10.1530/EJE-20-1088
– What Did We Learn from the Molecular Biology of Adrenal Cortical Neoplasia? From Histopathology to Translational Genomics.
C Christofer Juhlin, Jérôme Bertherat, Thomas J Giordano, Gary D Hammer, Hironobu Sasano, Ozgur Mete
Endocr Pathol, 2021 Mar, PMID: 33534120 DOI: 10.1007/s12022-021-09667-0
– Adrenal ganglioneuromas: a retrospective multicentric study of 104 cases from the COMETE network.
Elisa Deflorenne, Michel Peuchmaur, Delphine Vezzosi, Christiane Ajzenberg, Laurent Brunaud, Nicolas Chevalier, Sophie Christin-Maitre, Bénédicte Decoudier, Natacha Driessens, Delphine D Drui, Olivier Gilly et aL.
Eur J Endocrinol, 2021 Aug 27, PMID: 34291731 DOI: 10.1530/EJE-20-1049
– Consensus on diagnosis and management of Cushing »s disease: a guideline update.
Maria Fleseriu, Richard Auchus, Irina Bancos, Anat Ben-Shlomo, Jerome Bertherat, Nienke R Biermasz, Cesar L Boguszewski, Marcello D Bronstein, Michael Buchfelder, John D Carmichael, Felipe F Casanueva, Frederic Castinetti, Philippe Chanson et al.
Lancet Diabetes Endocrinol, 2021 Dec, PMID: 34687601 PMCID: PMC8743006 (available on 2022-12-01) DOI: 10.1016/S2213-8587(21)00235-7
2020
– Frequency and Incidence of Carney Complex Manifestations: A Prospective Multicenter Study With a Three-Year Follow-Up.
Espiard S, Vantyghem MC, Assié G, Cardot-Bauters C, Raverot G, Brucker-Davis F, Archambeaud-Mouveroux F, Lefebvre H, Nunes ML, Tabarin A, Lienhardt A, Chabre O, Houang M, Bottineau M, Stroër S, Groussin L, Guignat L, Cabanes L, Feydy A, Bonnet F, North MO, Dupin N, Grabar S, Duboc D, Bertherat J.
J Clin Endocrinol Metab, 2020 Mar 1, PMID: 31912137 DOI: 10.1210/clinem/dgaa002
– Pangenomic Classification of Pituitary Neuroendocrine Tumors.
Neou M, Villa C, Armignacco R, Jouinot A, Raffin-Sanson ML, Septier A, Letourneur F, Diry S, Diedisheim M, Izac B, Gaspar C, Perlemoine K, Verjus V, Bernier M, Boulin A, Emile JF, Bertagna X, Jaffrezic F, Laloe D, Baussart B, Bertherat J, Gaillard S, Assié G.
Cancer Cell, 2020 Jan 13, PMID: 31883967 DOI: 10.1016/j.ccell.2019.11.002
– An Ectopic Parathyroid Adenoma Mimicking a Carotid Body Paraganglioma.
Rossella Libé, Julien Calvani, Anne-Ségolène Cottereau, Tatiana Lecot Connan, Sebastien Gaujoux, Lionel Groussin, Myriam Wartski
J Endocr Soc, 2020 Nov 20, PMID: 33244507 PMCID: PMC7677933 DOI: 10.1210/jendso/bvaa143
– Intratumor heterogeneity of prognostic DNA-based molecular markers in adrenocortical carcinoma.
Anne Jouinot, Juliane Lippert, Martin Fassnacht, Bruno de La Villeon, Amandine Septier, Mario Neou, Karine Perlemoine, Silke Appenzeller, Mathilde Sibony, Sébastien Gaujoux, Bertrand Dousset, Rossella Libe, Lionel Groussin, Cristina L Ronchi, Guillaume Assié, and Jérôme Bertherat
Endocr Connect, 2020 Jul, PMID: 32698135 PMCID: PMC7424337 DOI: 10.1530/EC-20-0228
– Link between steroidogenesis, the cell cycle, and PKA in adrenocortical tumor cells.
Marthe Rizk-Rabin, Sabrina Chaoui-Ibadioune, Anna Vaczlavik, Christopher Ribes, Michel Polak, Bruno Ragazzon, Jerôme Bertherat
Mol Cell Endocrinol, 2020 Jan 15, PMID: 31678420 DOI: 10.1016/j.mce.2019.110636
– Molecular Basis of Primary Aldosteronism and Adrenal Cushing Syndrome.
Patricia Vaduva, Fideline Bonnet, Jérôme Bertherat
J Endocr Soc, 2020 Jun 29, PMID: 32783015 PMCID: PMC7412855 DOI: 10.1210/jendso/bvaa075
– Update of Genetic and Molecular Causes of Adrenocortical Hyperplasias Causing Cushing Syndrome.
Annabel Berthon, Jérôme Bertherat
Horm Metab Res, 2020 Aug, PMID: 32097969 DOI: 10.1055/a-1061-7349
2019
– Diseases Predisposing to Adrenocortical Malignancy (Li-Fraumeni Syndrome, Beckwith-Wiedemann Syndrome, and Carney Complex).
Jouinot, A ; Bertherat, J
Exp Suppl, 2019, PMID: 31588532 DOI: 10.1007/978-3-030-25905-1_9
– Value of Molecular Classification for Prognostic Assessment of Adrenocortical Carcinoma.
Assié, G ; Jouinot, A ; Fassnacht, M ; Libé, R ; Garinet, S ; Jacob, L & al
JAMA Oncol, 2019 Jul 11, PMID: 31294750 PMCID: PMC6624825 DOI: 10.1001/jamaoncol.2019.1558
– Genomics of benign adrenocortical tumors.
Jouinot, A ; Armignacco, R ; Assié, G
J Steroid Biochem Mol Biol, 2019 Oct, PMID: 31207362 DOI: 10.1016/j.jsbmb.2019.105414
– 18F-FDG PET reveals an adrenocortical carcinoma in a bilateral adrenal multinodular disease.
Libé, R ; Jazeron, JF ; Louiset, E ; Groussin, L
Endocrine, 2019 Jan, PMID: 30251165 DOI: 10.1007/s12020-018-1757-3
– Clinical and molecular prognostic factors in adrenocortical carcinoma.
Libé, R
Minerva Endocrinol, 2019 Mar, PMID: 30221891 DOI: 10.23736/S0391-1977.18.02900-0
– Heat Shock Protein 90 as a Prognostic Marker and Therapeutic Target for Adrenocortical Carcinoma.
Siebert, C ; Ciato, D ; Murakami, M ; Frei-Stuber, L ; Perez-Rivas, LG ; Monteserin-Garcia, JL & al
Front Endocrinol (Lausanne), 2019 Jul 19, PMID: 31379752 PMCID: PMC6658895 DOI: 10.3389/fendo.2019.00487
– EZH2 cooperates with E2F1 to stimulate expression of genes involved in adrenocortical carcinoma aggressiveness.
Tabbal, H ; Septier, A ; Mathieu, M ; Drelon, C ; Rodriguez, S ; Djari, C & al
Br J Cancer, 2019 Aug, PMID: 31363169 PMCID: PMC6738105 DOI: 10.1038/s41416-019-0538-y
– Driver mutations in USP8 wild-type Cushing »s disease.
Sbiera, S ; Perez-Rivas, LG ; Taranets, L ; Weigand, I ; Flitsch, J ; Graf, E & al
Neuro Oncol, 2019 Oct 9, PMID: 31222332 PMCID: PMC6784271 DOI: 10.1093/neuonc/noz109
– Hormonal and spatial control of SUMOylation in the human and mouse adrenal cortex.
Dumontet, T ; Sahut-Barnola, I ; Dufour, D ; Lefrançois-Martinez, AM ; Berthon, A ; Montanier, N & al
FASEB J, 2019 Sep, PMID: 31208233 DOI: 10.1096/fj.201900557R
– Illicit Upregulation of Serotonin Signaling Pathway in Adrenals of Patients With High Plasma or Intra-Adrenal ACTH Levels.
Le Mestre, J ; Duparc, C ; Reznik, Y ; Bonnet-Serrano, F ; Touraine, P ; Chabre, O & al
J Clin Endocrinol Metab, 2019 Nov 1, PMID: 31074783 PMCID: PMC6937520 DOI: 10.1210/jc.2019-00425
– Morbidity and mortality of bone metastases in advanced adrenocortical carcinoma: a multicenter retrospective study.
Berruti, A ; Libè, R ; Laganà, M ; Ettaieb, H ; Sukkari, MA ; Bertherat, J & al
Eur J Endocrinol, 2019 May 1, PMID: 30970324 DOI: 10.1530/EJE-19-0026
– Targeted next-generation sequencing detects rare genetic events in pheochromocytoma and paraganglioma.
Ben Aim, L ; Pigny, P ; Castro-Vega, LJ ; Buffet, A ; Amar, L ; Bertherat, J & al
J Med Genet, 2019 Aug, PMID: 30877234 DOI: 10.1136/jmedgenet-2018-105714
– Long-Term Outcome of Primary Bilateral Macronodular Adrenocortical Hyperplasia After Unilateral Adrenalectomy.
Osswald, A ; Quinkler, M ; Di Dalmazi, G ; Deutschbein, T ; Rubinstein, G ; Ritzel, K & al
J Clin Endocrinol Metab, 2019 Jul 1, PMID: 30844071 DOI: 10.1210/jc.2018-02204
– Prognosis of Malignant Pheochromocytoma and Paraganglioma (MAPP-Prono Study): A European Network for the Study of Adrenal Tumors Retrospective Study.
Hescot, S ; Curras-Freixes, M ; Deutschbein, T ; van Berkel, A ; Vezzosi, D ; Amar, L & al
J Clin Endocrinol Metab, 2019 Jun 1, PMID: 30715419 DOI: 10.1210/jc.2018-01968
– Positive Impact of Genetic Test on the Management and Outcome of Patients With Paraganglioma and/or Pheochromocytoma.
Buffet, A ; Ben Aim, L ; Leboulleux, S ; Drui, D ; Vezzosi, D ; Libé, R & al
J Clin Endocrinol Metab, 2019 Apr 1, PMID: 30698717 DOI: 10.1210/jc.2018-02411
– Fascin-1 Is a Novel Prognostic Biomarker Associated With Tumor Invasiveness in Adrenocortical Carcinoma.
Poli, G ; Ruggiero, C ; Cantini, G ; Canu, L ; Baroni, G ; Armignacco, R & al
J Clin Endocrinol Metab, 2019 May 1, PMID: 30476173 DOI: 10.1210/jc.2018-01717
– French Endocrine Society Guidance on endocrine side effects of immunotherapy.
Castinetti, F ; Albarel, F ; Archambeaud, F ; Bertherat, J ; Bouillet, B ; Buffier, P & al
Endocr Relat Cancer, 2019 Feb, PMID: 30400055 PMCID: PMC6347286 DOI: 10.1530/ERC-18-0320
– Telomerase Activation and ATRX Mutations Are Independent Risk Factors for Metastatic Pheochromocytoma and Paraganglioma.
Job, S ; Draskovic, I ; Burnichon, N ; Buffet, A ; Cros, J ; Lépine, C & al
Clin Cancer Res, 2019 Jan 15, PMID: 30301828 DOI: 10.1158/1078-0432.CCR-18-0139
2018
– Activating PRKACB somatic mutation in cortisol-producing adenomas.
Espiard S, Knape MJ, Bathon K, Assié G, Rizk-Rabin M, Faillot S, Luscap-Rondof W, Abid D, Guignat L, Calebiro D, Herberg FW, Stratakis CA, Bertherat J.
JCI Insight, 2018 Apr 19, PMID: 31883967 DOI: 10.1016/j.ccell.2019.11.002
– SFE/SFEDP adrenal insufficiency French consensus: Introduction and handbook.
Reznik Y, Barat P, Bertherat J, Bouvattier C, Castinetti F, Chabre O, Chanson P, Cortet C, Delemer B, Goichot B, Gruson D, Guignat L, Proust-Lemoine E, Sanson MR, Reynaud R, Boustani DS, Simon D, Tabarin A, Zenaty D.
Ann Endocrinol (Paris), 2018 Feb, PMID: 29338844 DOI: 10.1016/j.ando.2017.12.001
– Therapeutic patient education in adrenal insufficiency.
Guignat L.
Ann Endocrinol (Paris), 2018 Jun, PMID: 29338844 DOI: 10.1016/j.ando.2017.12.001
2015
– ARMC5 Mutations in a Large Cohort of Primary Macronodular Adrenal Hyperplasia: Clinical and Functional Consequences.
Espiard S, Drougat L, Libé R, Assié G, Perlemoine K, Guignat L, Barrande G, Brucker-Davis F, Doullay F, Lopez S, Sonnet E, Torremocha F, Pinsard D, Chabbert-Buffet N, Raffin-Sanson ML, Groussin L, Borson-Chazot F, Coste J, Bertagna X, Stratakis CA, Beuschlein F, Ragazzon B, Bertherat J.
J Clin Endocrinol Metab, 2015 Jun, PMID: 25853793 PMCID: PMC5393514 DOI: 10.1210/jc.2014-4204
2014
– Constitutive activation of PKA catalytic subunit in adrenal Cushing’s syndrome.
Beuschlein F, Fassnacht M, Assié G, Calebiro D, Stratakis CA, Osswald A, Ronchi CL, Wieland T, Sbiera S, Faucz FR, Schaak K, Schmittfull A, Schwarzmayr T, Barreau O, Vezzosi D, Rizk-Rabin M, Zabel U, Szarek E, Salpea P, Forlino A, Vetro A, Zuffardi O, Kisker C, Diener S, Meitinger T, Lohse MJ, Reincke M, Bertherat J, Strom TM, Allolio B.
N Engl J Med, 2014 Mar 13, PMID: 24571724 PMCID: PMC4727447 DOI: 10.1056/NEJMoa1310359
2013
– ARMC5 mutations in macronodular adrenal hyperplasia with Cushing’s syndrome.
Assié G, Libé R, Espiard S, Rizk-Rabin M, Guimier A, Luscap W, Barreau O, Lefèvre L, Sibony M, Guignat L, Rodriguez S, Perlemoine K, René-Corail F, Letourneur F, Trabulsi B, Poussier A, Chabbert-Buffet N, Borson-Chazot F, Groussin L, Bertagna X, Stratakis CA, Ragazzon B, Bertherat J.
N Engl J Med, 2013 Nov 28, PMID: 24283224 PMCID: PMC4727443 DOI: 10.1056/NEJMoa1304603
– Intraadrenal corticotropin in bilateral macronodular adrenal hyperplasia.
Louiset E, Duparc C, Young J, Renouf S, Tetsi Nomigni M, Boutelet I, Libé R, Bram Z, Groussin L, Caron P, Tabarin A, Grunenberger F, Christin-Maitre S, Bertagna X, Kuhn JM, Anouar Y, Bertherat J, Lefebvre H.
N Engl J Med, 2013 Nov 28, PMID: 24283224 PMCID: PMC4727443 DOI: 10.1056/NEJMoa1304603
- The genetics of Primary Bilateral Macronodular Adrenal Hyperplasia (PBMAH), Oxford University, Oxford, UK, 7 Nov 2019, J Bertherat, publics endocrinologues et généticiens
- Cushing’s syndrome as a model of endocrine tumorigenesis, Society for Endocrinology, Brighton, UK, 13 nov 2019, J Bertherat, public endocrinologues
- Approaching adrenal incidentaloma, 20th ASEAN FEDERATION OF ENDOCRINE SOCIETIES CONGRESS (AFES) Manila, 23rd of November, 2019, J Bertherat, public endocrinologues et internistes
- Syndrome de Cushing chez l’enfant : causes génétiques, Sixième journée scientifique de l’association surrénale. Les hypersécrétions surrénaliennes, Paris, 29 11 2019, J Bertherat, public endocrinologues, pédiatres, généticiens
- Education thérapeutique des patients insuffisants surrénaliens, Assemblée générale de l’Association Surrénales Hôpital Robert Debré Paris, 30/3/2019, L Guignat, public patients et familles, association de patients
- Journées Nationales du DES d’Endocrinologie, Diabétologie, Maladies Métaboliques, Nutrition, Espace Saint Martin – Paris les 10 et 11/1/2019, Dr Guignat, public : internes DES
- L’éducation thérapeutique dans les maladies rares endocriniennes, journée paramédicale de la filière Firendo, CHU Angers, 8/10/2019 40 min, Dr Guignat. public: paramédicaux
> FIRENDO Guide to rare endocrine diseases
Adrenal insufficiency
- Adrenal insufficiency 2015 SFE/SFED consensus
- Video tutorial on emergency injection of hydorcortisone
- CAP Surrénales web/mobile application
- Good practices in case of emergency for acute adrenal insufficiency – Orphanet
Pheochromocytoma and/or paraganglioma
- List of contraindicated foods and drugs
- Good practices in case of emergency for a pheochromocytoma and/or a paraganglioma – Orphanet
Cushing’s syndrome and corticosurrenaloma
- Cushing’s syndrome PNDS(2008)
- Information site on Cushing’s syndrome hosted by the French society of endocrinology (SFE)
- Practical guide « On the proper use of Lysodren in adrenal cortex diseases »
Adrenal enzyme deficiencies
- Congenital adrenal hyperplasia PNDS(2011)
- Resumption of diagnostic announcement in adulthood « classic form of congenital adrenal hyperplasia » (2012) (Caregivers)
Impact of the disease on daily life
The FIRENDO healthcare network has developed self-administered questionnaires to help patients explain their daily difficulties, specific to their rare disease, and often invisible. They can be attached to applications for recognition (disability files, MDPH, PAI, etc.). Two versions are available: adults and children/parents. The aim of these documents is :
Podcast « Managing Cushing’s Syndrome »
RARE à l’écoute | 04.21.2021
What are the main principles of management of Cushing’s syndrome? How can this management be personalized for patients? What are the most frequently encountered comorbidities and how should they be managed? How can the coordination and follow-up of patient care be organized?
Professor Jérôme Bertherat, endocrinologist, university professor at the Paris faculty of medicine, hospital practitioner and head of the endocrinology department at the Cochin hospital in Paris, coordinator of the reference center for rare adrenal diseases and coordinator of the FIRENDO – rare endocrine diseases network, answers your questions.
> Listen to the podcast
Contact information
Cochin hospital
> Department of endocrinology and metabolic diseases
27 rue du faubourg Saint-Jacques
75014 Paris
At Cochin hospital, the reference center for in brief …
1 856 patients followed at least once a year*
1 592 medical consultations*
792 day hospitalizations*
712 fully hospitalized patients*
2 authorized therapeutic education programs*
132 patients trained in therapeutic education*
7 ongoing research projects*
5 university courses*
27 publications*
91 teleconsultation procedures*
* data valid for 2022