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1. Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study

Author

Chasseloup, Fanny, Bourdeau, Isabelle, Tabarin, Antoine, Regazzo, Daniela, Dumontet, Charles, Ladurelle, Nataly, Tosca, Lucie, Amazit, Larbi, Proust, Alexis, Scharfmann, Raphael, Mignot, Tiphaine, Fiore, Frédéric, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Maiter, Dominique, Young, Jacques, Lecoq, Anne-Lise, Deméocq, Vianney, Salenave, Sylvie, Lefebvre, Hervé, Cloix, Lucie, Emy, Philippe, Dessailloud, Rachel, Vezzosi, Delphine, Scaroni, Carla, Barbot, Mattia, de Herder, Wouter, Pattou, François, Tétreault, Martine, Corbeil, Gilles, Dupeux, Margot, Lambert, Benoit, Tachdjian, Gérard, Guiochon-Mantel, Anne, Beau, Isabelle, Chanson, Philippe, Viengchareun, Say, Lacroix, André, Bouligand, Jérôme, and Kamenický, Peter

Published
2021
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2. OR04-4 Loss of KDM1A in Bilateral Macronodular Adrenal Hyperplasia With GIP-Dependent Cushing's Syndrome and in Acromegaly With Paradoxical GH Response to Oral Glucose

Author

Amazit, Larbi, primary, Barbot, Mattia, additional, Beau, Isabelle, additional, Bouligand, Jérôme, additional, Bourdeau, Isabelle, additional, Chanson, Philippe, additional, Cloix, Lucie, additional, Corbeil, Gilles, additional, de Herder, Wouter, additional, Deméocq, Vianney, additional, Desailloud, Rachel, additional, Dumontet, Charles, additional, Dupeux, Margot, additional, Emy, Philippe, additional, Fiore, Frederic, additional, Guiochon-Mantel, Anne, additional, Kamenicky, Peter, additional, Lacroix, André, additional, Ladurelle, Nataly, additional, Lambert, Benoit, additional, Lecoq, Anne-Lise, additional, Lefebvre, Hervé, additional, Maiter, Dominique, additional, Pattou, Francois, additional, Proust, Alexis, additional, Regazzo, Daniela, additional, Salenave, Sylvie, additional, Scaroni, Carla, additional, Scharfmann, Raphael, additional, Tabarin, Antoine, additional, Tachdjian, Gerard, additional, Tetreault, Martine, additional, Tosca, Lucie, additional, Tsagarakis, Stylianos, additional, Vassiliadi, Dimitra, additional, Vezzosi, Delphine, additional, Viengchareun, Say, additional, Young, Jacques, additional, and Chasseloup, Fanny, additional

Published
2022
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3. Loss of lysine demethylase KDM1A in GIP-dependent bilateral macronodular adrenal hyperplasia with Cushing's syndrome

Author

Chasseloup, Fanny, primary, Bourdeau, Isabelle, additional, Tabarin, Antoine, additional, Regazzo, Daniela, additional, Dumontet, Charles, additional, Ladurelle, Nataly, additional, Tosca, Lucie, additional, Amazit, Larbi, additional, Proust, Alexis, additional, Scharfmann, Raphael, additional, Fiore, Frederic, additional, Tsagarakis, Stylianos, additional, Vassiliadi, Dimitra, additional, Maiter, Dominique, additional, Young, Jacques, additional, Lecoq, Anne-Lise, additional, Demeocq, Vianney, additional, Salenave, Sylvie, additional, Lefebvre, Herve, additional, Cloix, Lucie, additional, Emy, Philippe, additional, Desailloud, Rachel, additional, Vezzosi, Delphine, additional, Scaroni, Carla, additional, Barbot, Mattia, additional, de, Herder Wouter, additional, Pattou, Francois, additional, Tetreault, Martine, additional, Corbeil, Gilles, additional, Dupeux, Margot, additional, Lambert, Benoit, additional, Tachdjian, Gerard, additional, Guiochon-Mantel, Anne, additional, Beau, Isabelle, additional, Chanson, Philippe, additional, Viengchareun, Say, additional, Lacroix, Andre, additional, Bouligand, Jerome, additional, and Kamenicky, Peter, additional

Published
2022
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4. OR04-4 Loss of KDM1A in Bilateral Macronodular Adrenal Hyperplasia With GIP-Dependent Cushing's Syndrome and in Acromegaly With Paradoxical GH Response to Oral Glucose

Author

UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Amazit, Larbi, Barbot, Mattia, Beau, Isabelle, Bouligand, Jérôme, Bourdeau, Isabelle, Chanson, Philippe, Cloix, Lucie, Corbeil, Gilles, de Herder, Wouter, Deméocq, Vianney, Desailloud, Rachel, Dumontet, Charles, Dupeux, Margot, Emy, Philippe, Fiore, Frederic, Guiochon-Mantel, Anne, Kamenicky, Peter, Lacroix, André, Ladurelle, Nataly, Lambert, Benoit, Lecoq, Anne-Lise, Lefebvre, Hervé, Maiter, Dominique, Pattou, Francois, Proust, Alexis, Regazzo, Daniela, Salenave, Sylvie, Scaroni, Carla, Scharfmann, Raphael, Tabarin, Antoine, Tachdjian, Gerard, Tetreault, Martine, Tosca, Lucie, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Vezzosi, Delphine, Viengchareun, Say, Young, Jacques, Chasseloup, Fanny, Annual Meeting of the Endocrine Society 2022, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Amazit, Larbi, Barbot, Mattia, Beau, Isabelle, Bouligand, Jérôme, Bourdeau, Isabelle, Chanson, Philippe, Cloix, Lucie, Corbeil, Gilles, de Herder, Wouter, Deméocq, Vianney, Desailloud, Rachel, Dumontet, Charles, Dupeux, Margot, Emy, Philippe, Fiore, Frederic, Guiochon-Mantel, Anne, Kamenicky, Peter, Lacroix, André, Ladurelle, Nataly, Lambert, Benoit, Lecoq, Anne-Lise, Lefebvre, Hervé, Maiter, Dominique, Pattou, Francois, Proust, Alexis, Regazzo, Daniela, Salenave, Sylvie, Scaroni, Carla, Scharfmann, Raphael, Tabarin, Antoine, Tachdjian, Gerard, Tetreault, Martine, Tosca, Lucie, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Vezzosi, Delphine, Viengchareun, Say, Young, Jacques, Chasseloup, Fanny, and Annual Meeting of the Endocrine Society 2022

Abstract

CONTEXT : Primary bilateral macronodular adrenal hyperplasia (PBMAH) with glucose-dependent insulinotropic polypeptide (GIP)-dependent Cushing's syndrome is caused by ectopic expression of GIP receptor (GIPR) in the adrenal lesions. Such ectopic expression of GIPR was also reported in other endocrine neoplasm, notably in somatotroph pituitary adenomas from acromegalic patients with paradoxical increase of GH after oral glucose load, suggesting a common molecular pathogenesis. We aimed to identify the driver event responsible for GIP-dependent PBMAH with Cushing's syndrome and ectopic GIPR expression in somatotropinomas. [...]

Published
2022

5. KDM1A inactivation causes hereditary food-dependent Cushing syndrome

Author

Vaczlavik, Anna, primary, Bouys, Lucas, additional, Violon, Florian, additional, Giannone, Gaetan, additional, Jouinot, Anne, additional, Armignacco, Roberta, additional, Cavalcante, Isadora P., additional, Berthon, Annabel, additional, Letouzé, Eric, additional, Vaduva, Patricia, additional, Barat, Maxime, additional, Bonnet, Fidéline, additional, Perlemoine, Karine, additional, Ribes, Christopher, additional, Sibony, Mathilde, additional, North, Marie-Odile, additional, Espiard, Stéphanie, additional, Emy, Philippe, additional, Haissaguerre, Magalie, additional, Tauveron, Igor, additional, Guignat, Laurence, additional, Groussin, Lionel, additional, Dousset, Bertrand, additional, Reincke, Martin, additional, Fragoso, Maria C., additional, Stratakis, Constantine A., additional, Pasmant, Eric, additional, Libé, Rossella, additional, Assié, Guillaume, additional, Ragazzon, Bruno, additional, and Bertherat, Jérôme, additional

Published
2022
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6. OR04-4 Loss of KDM1A in Bilateral Macronodular Adrenal Hyperplasia With GIP-Dependent Cushing's Syndrome and in Acromegaly With Paradoxical GH Response to Oral Glucose

Author

Amazit, Larbi, Barbot, Mattia, Beau, Isabelle, Bouligand, Jérôme, Bourdeau, Isabelle, Chanson, Philippe, Cloix, Lucie, Corbeil, Gilles, de Herder, Wouter, Deméocq, Vianney, Desailloud, Rachel, Dumontet, Charles, Dupeux, Margot, Emy, Philippe, Fiore, Frederic, Guiochon-Mantel, Anne, Kamenicky, Peter, Lacroix, André, Ladurelle, Nataly, Lambert, Benoit, Lecoq, Anne-Lise, Lefebvre, Hervé, Maiter, Dominique, Pattou, Francois, Proust, Alexis, Regazzo, Daniela, Salenave, Sylvie, Scaroni, Carla, Scharfmann, Raphael, Tabarin, Antoine, Tachdjian, Gerard, Tetreault, Martine, Tosca, Lucie, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Vezzosi, Delphine, Viengchareun, Say, Young, Jacques, Chasseloup, Fanny, Annual Meeting of the Endocrine Society 2022, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, and UCL - (SLuc) Service d'endocrinologie et de nutrition

Subjects
Diabetes and Metabolism, Endocrinology, Endocrinology, Diabetes and Metabolism
Abstract

Context Primary bilateral macronodular adrenal hyperplasia (PBMAH) with glucose-dependent insulinotropic polypeptide (GIP)-dependent Cushing's syndrome is caused by ectopic expression of GIP receptor (GIPR) in the adrenal lesions. Such ectopic expression of GIPR was also reported in other endocrine neoplasm, notably in somatotroph pituitary adenomas from acromegalic patients with paradoxical increase of GH after oral glucose load, suggesting a common molecular pathogenesis. We aimed to identify the driver event responsible for GIP-dependent PBMAH with Cushing's syndrome and ectopic GIPR expression in somatotropinomas. Methods We conducted an international, multicenter, cohort study. We collected blood and adrenal samples from patients who had undergone unilateral or bilateral adrenalectomy for GIP-dependent PBMAH with Cushing's syndrome. Adrenal samples from patients with PBMAH and Cushing's syndrome without food-dependent cortisol production were used as controls. We further collected somatotropinoma specimens from acromegaly patients followed at two expert endocrine centers in France. Results 17 patients with familial or sporadic GIP-dependent PBMAH with Cushing's syndrome were studied. We identified germline heterozygous mutations in the lysine demethylase 1A (KDM1A) gene in all 17 patients. We further identified a recurrent deletion of the short arm of chromosome 1 harboring the KDM1A locus in the adrenal lesions of affected patients. None of the 25 patients in the control group had KDM1A germline or somatic alterations. Concomitant genetic inactivation of both KDM1A alleles resulted in loss of KDM1A expression in the adrenal lesions. RNA-sequencing revealed the global impact of KDM1A loss in adrenal tissue on gene transcription and identified differentially regulated genes including those encoding for GIPR and other G-Protein-Coupled Receptors that may be involved in adrenal tumorigenesis and regulation of steroidogenesis. In vitro pharmacologic inhibition, silencing and knock-out by CRISPR-Cas9 genome editing of KDM1A led to an increase in GIPR transcripts and protein in human adrenocortical H295R cells. Somatotropinoma samples from 78 patients with acromegaly were studied. 24% of these patients presented with a paradoxical rise of GH after oral glucose load and expressed ectopically GIP-receptor in their somatotropinoma. None of the somatotropinomas harbored KDM1A pathogenic variants, but those from patients with paradoxical GH response displayed a recurrent chromosome 1p loss. Discussion We identified germline inactivating KDM1A mutations and loss of heterozygosity as a genetic predisposition to GIP-dependent PBMAH with Cushing's syndrome following a tumor suppressor gene model of tumorigenesis. We currently perform genetic screening in first-degree relatives of patients with GIP-dependent PBMAH with Cushing's syndrome and clinical examination with biochemical testing in asymptomatic KDM1A variant carriers. We did not identify somatic KDM1A mutations in somatotropinomas expressing GIPR ectopically, however their recurrent 1p chromosome loss suggests that KDM1A haploinsufficiency may contribute to GIPR expression in those tumors. Presentation: Saturday, June 11, 2022 12:15 p.m. - 12:30 p.m.

Published
2022

7. Clinical Outcome, Hormonal Status, Gonadotrope Axis, and Testicular Function in 219 Adult Men Born With Classic 21-Hydroxylase Deficiency. A French National Survey

Author

Bouvattier, Claire, Esterle, Laure, Renoult-Pierre, Peggy, de la Perrière, Aude Brac, Illouz, Frederic, Kerlan, Véronique, Pascal-Vigneron, Veronique, Drui, Delphine, Christin-Maitre, Sophie, Galland, Françoise, Brue, Thierry, Reznik, Yves, Schillo, Frank, Pinsard, Denis, Piguel, Xavier, Chabrier, Gérard, Decoudier, Bénédicte, Emy, Philippe, Tauveron, Igor, Raffin-Sanson, Marie-Laure, Bertherat, Jerôme, Kuhn, Jean-Marc, Caron, Philippe, Cartigny, Maryse, Chabre, Olivier, Dewailly, Didier, Morel, Yves, Touraine, Philippe, Tardy-Guidollet, Véronique, and Young, Jacques

Published
2015

8. Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.

Author

UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Chasseloup, Fanny, Bourdeau, Isabelle, Tabarin, Antoine, Regazzo, Daniela, Dumontet, Charles, Ladurelle, Nataly, Tosca, Lucie, Amazit, Larbi, Proust, Alexis, Scharfmann, Raphael, Mignot, Tiphaine, Fiore, Frédéric, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Maiter, Dominique, Young, Jacques, Lecoq, Anne-Lise, Deméocq, Vianney, Salenave, Sylvie, Lefebvre, Hervé, Cloix, Lucie, Emy, Philippe, Dessailloud, Rachel, Vezzosi, Delphine, Scaroni, Carla, Barbot, Mattia, de Herder, Wouter, Pattou, François, Tétreault, Martine, Corbeil, Gilles, Dupeux, Margot, Lambert, Benoit, Tachdjian, Gérard, Guiochon-Mantel, Anne, Beau, Isabelle, Chanson, Philippe, Viengchareun, Say, Lacroix, André, Bouligand, Jérôme, Kamenický, Peter, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, UCL - (SLuc) Service d'endocrinologie et de nutrition, Chasseloup, Fanny, Bourdeau, Isabelle, Tabarin, Antoine, Regazzo, Daniela, Dumontet, Charles, Ladurelle, Nataly, Tosca, Lucie, Amazit, Larbi, Proust, Alexis, Scharfmann, Raphael, Mignot, Tiphaine, Fiore, Frédéric, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Maiter, Dominique, Young, Jacques, Lecoq, Anne-Lise, Deméocq, Vianney, Salenave, Sylvie, Lefebvre, Hervé, Cloix, Lucie, Emy, Philippe, Dessailloud, Rachel, Vezzosi, Delphine, Scaroni, Carla, Barbot, Mattia, de Herder, Wouter, Pattou, François, Tétreault, Martine, Corbeil, Gilles, Dupeux, Margot, Lambert, Benoit, Tachdjian, Gérard, Guiochon-Mantel, Anne, Beau, Isabelle, Chanson, Philippe, Viengchareun, Say, Lacroix, André, Bouligand, Jérôme, and Kamenický, Peter

Abstract

BACKGROUND: GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome is caused by aberrant expression of the GIP receptor in adrenal lesions. The bilateral nature of this disease suggests germline genetic predisposition. We aimed to identify the genetic driver event responsible for GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome. METHODS: We conducted a multicentre, retrospective, cohort study at endocrine hospitals and university hospitals in France, Canada, Italy, Greece, Belgium, and the Netherlands. We collected blood and adrenal samples from patients who had undergone unilateral or bilateral adrenalectomy for GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome. Adrenal samples from patients with primary bilateral macronodular adrenal hyperplasia who had undergone an adrenalectomy for overt or mild Cushing's syndrome without evidence of food-dependent cortisol production and those with GIP-dependent unilateral adrenocortical adenomas were used as control groups. We performed whole genome, whole exome, and targeted next generation sequencing, and copy number analyses of blood and adrenal DNA from patients with familial or sporadic disease. We performed RNA sequencing on adrenal samples and functional analyses of the identified genetic defect in the human adrenocortical cell line H295R. FINDINGS: 17 patients with GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome were studied. The median age of patients was 43·3 (95% CI 38·8-47·8) years and most patients (15 [88%]) were women. We identified germline heterozygous pathogenic or most likely pathogenic variants in the KDM1A gene in all 17 patients. We also identified a recurrent deletion in the short p arm of chromosome 1 harboring the KDM1A locus in adrenal lesions of these patients. None of the 29 patients in the control groups had KDM1A germline or somatic alterations.

Published
2021

9. Thymic Neuroendocrine Tumors in Multiple Endocrine Neoplasia Type 1: A Comparative Study on 21 Cases Among a Series of 761 MEN1 from the GTE (Groupe des Tumeurs Endocrines)

Author

Goudet, Pierre, Murat, Arnaud, Cardot-Bauters, Catherine, Emy, Philippe, Baudin, Eric, du Boullay Choplin, Hélène, Chapuis, Yves, Kraimps, Jean-Louis, Sadoul, Jean-Louis, Tabarin, Antoine, Vergès, Bruno, Carnaille, Bruno, Niccoli-Sire, Patricia, Costa, Annie, Calender, Alain, and The members of the GTE network (Groupe des Tumeurs Endocrines)

Published
2009
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11. Les dispositions de la loi du 19 juillet 2019 relatives à toutes les sociétés, aux sociétés civiles et aux SARL

Author

Emy, Philippe, Saintourens, Bernard, Université de Bordeaux (UB), Institut de recherche en droit des affaires et du Patrimoine (IRDAP ), and collaboration or project value

Subjects
Société en General, [SHS.DROIT]Humanities and Social Sciences/Law, Droit des sociétés, Réforme, Loi du 19 juillet 2019, ComputingMilieux_MISCELLANEOUS, Simplification
Abstract

International audience

Published
2019

12. LSD1/KDM1A Inactivation Causes Hereditary Food-Dependent Cushing’s Syndrome

Author

Vaczlavik, Anna, primary, Bouys, Lucas, additional, Violon, Florian, additional, Giannone, Gaetan, additional, Jouinot, Anne, additional, Armignacco, Roberta, additional, Cavalcante, Isadora, additional, Berthon, Annabel, additional, Letouzé, Eric, additional, Vaduva, Patricia, additional, Barat, Maxime, additional, Bonnet, Fidéline, additional, Perlemoine, Karine, additional, Ribes, Christopher, additional, Sibony, Mathilde, additional, North, Marie-Odile, additional, Espiard, Stéphanie, additional, Emy, Philippe, additional, Haissaguerre, Magalie, additional, Tauveron, Igor, additional, Guignat, Laurence, additional, Groussin, Lionel, additional, Dousset, Bertrand, additional, Reincke, Martin, additional, Fragoso, Maria C. B. V., additional, Stratakis, Constantine, additional, Pasmant, Eric, additional, Libé, Rossella, additional, Assié, Guillaume, additional, Ragazzon, Bruno, additional, and Bertherat, Jérôme, additional

Published
2021
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13. Clinical Characteristics and Therapeutic Responses in Patients with Germ-Line AIP Mutations and Pituitary Adenomas: An International Collaborative Study

Author

Daly, Adrian F., Tichomirowa, Maria A., Petrossians, Patrick, Heliövaara, Elina, Jaffrain-Rea, Marie-Lise, Barlier, Anne, Naves, Luciana A., Ebeling, Tapani, Karhu, Auli, Raappana, Antti, Cazabat, Laure, De Menis, Ernesto, Fajardo Montañana, Carmen, Raverot, Gerald, Weil, Robert J., Sane, Timo, Maiter, Dominique, Neggers, Sebastian, Yaneva, Maria, Tabarin, Antoine, Verrua, Elisa, Eloranta, Eija, Murat, Arnaud, Vierimaa, Outi, Salmela, Pasi I., Emy, Philippe, Toledo, Rodrigo A., Sabaté, Maria Isabel, Villa, Chiara, Popelier, Marc, Salvatori, Roberto, Jennings, Juliet, Ferrandez Longás, Ángel, Labarta Aizpún, José Ignacio, Georgitsi, Marianthi, Paschke, Ralf, Ronchi, Cristina, Valimaki, Matti, Saloranta, Carola, De Herder, Wouter, Cozzi, Renato, Guitelman, Mirtha, Magri, Flavia, Lagonigro, Maria Stefania, Halaby, Georges, Corman, Vinciane, Hagelstein, Marie-Thérèse, Vanbellinghen, Jean-François, Barcelos Barra, Gustavo, Gimenez-Roqueplo, Anne-Paule, Cameron, Fergus J., Borson-Chazot, Françoise, Holdaway, Ian, Toledo, Sergio P. A., Stalla, Günter K., Spada, Anna, Zacharieva, Sabina, Bertherat, Jerome, Brue, Thierry, Bours, Vincent, Chanson, Philippe, Aaltonen, Lauri A., and Beckers, Albert

Published
2010

16. Aryl Hydrocarbon Receptor-Interacting Protein Gene Mutations in Familial Isolated Pituitary Adenomas: Analysis in 73 Families

Author

Daly, Adrian F., Vanbellinghen, Jean-François, Khoo, Sok Kean, Jaffrain-Rea, Marie-Lise, Naves, Luciana A., Guitelman, Mirtha A., Murat, Arnaud, Emy, Philippe, Gimenez-Roqueplo, Anne-Paule, Tamburrano, Guido, Raverot, Gérald, Barlier, Anne, De Herder, Wouter, Penfornis, Alfred, Ciccarelli, Enrica, Estour, Bruno, Lecomte, Pierre, Gatta, Blandine, Chabre, Olivier, Sabaté, María Isabel, Bertagna, Xavier, Basavilbaso, Natalia Garcia, Stalldecker, Graciela, Colao, Annamaria, Ferolla, Piero, Wémeau, Jean-Louis, Caron, Philippe, Sadoul, Jean-Louis, Oneto, Adriana, Archambeaud, Françoise, Calender, Alain, Sinilnikova, Olga, Montañana, Carmen Fajardo, Cavagnini, Francesco, Hana, Vaclav, Solano, Angela, Delettieres, Dreanina, Luccio-Camelo, Douglas C., Basso, Armando, Rohmer, Vincent, Brue, Thierry, Bours, Vincent, Teh, Bin Tean, and Beckers, Albert

Published
2007

17. Germ-line mutation analysis in patients with multiple endocrine neoplasia type 1 and related disorders

Author

Giraud, Sophie, Zhang, Chang X., Serova-Sinilnikova, Olga, Wautot, Virginie, Salandre, Janine, Buisson, Nathalie, Waterlot, Christine, Bauters, Catherine, Porchet, Nicole, Aubert, Jean-Pierre, Emy, Philippe, Cadiot, Guillaume, Delemer, Brigitte, Chabre, Olivier, Niccoli, Patricia, Leprat, Frederic, Duron, Francoise, Emperauger, Brigitte, Cougard, Patrick, Goudet, Pierre, Sarfati, Emile, Riou, Jean-Paul, Guichard, Sylvie, Rodier, Michel, Meyrier, Alain, Caron, Philippe, Vantyghem, Marie-Christine, Assayag, Michel, Peix, Jean-Louis, Pugeat, Michel, Rohmer, Vincent, Vollotton, Michel, Lenoir, Gilbert, Gaudray, Patrick, Proye, Charles, Conte-Devolx, Bernard, Chanson, Philippe, Shugart, Yin Y., Goldgar, David, Murat, Arnaud, and Calender, Alain

Subjects
Genetic disorders -- Research, Antibody diversity -- Genetic aspects, Endocrine gland cancer -- Genetic aspects, Biological sciences
Abstract

Germ-line mutation analysis has been carried out in patients with multiple endocrine neoplasia type 1 (MEN1) and disorders that are related. MEN1 is an autosomal dominant syndrome that involves predisposition to tumors or various parts of the endocrine system and also of diffuse neuroendocrine tissues. Families numbering 84 were screened for MEN (ital) germ-line mutations, as were isolated patients and 52 distinct mutations were found in 62 MEN1(ital) germ-line alterations. Five inframe deletions and eight missense mutations were found on the coding sequence. Other findings were also made including that there were 220 gene carriers, 53 of whom were not affected. There was no evidence of genotype-phenotype correlation. The study gives more information about diversity of MEN1(ital) germ-line mutations. It also gives new tools for genetic screening of MEN1 and cases that are clinically related.

Published
1998

18. KDM1Ainactivation causes hereditary food-dependent Cushing syndrome

Author

Vaczlavik, Anna, Bouys, Lucas, Violon, Florian, Giannone, Gaetan, Jouinot, Anne, Armignacco, Roberta, Cavalcante, Isadora P., Berthon, Annabel, Letouzé, Eric, Vaduva, Patricia, Barat, Maxime, Bonnet, Fidéline, Perlemoine, Karine, Ribes, Christopher, Sibony, Mathilde, North, Marie-Odile, Espiard, Stéphanie, Emy, Philippe, Haissaguerre, Magalie, Tauveron, Igor, Guignat, Laurence, Groussin, Lionel, Dousset, Bertrand, Reincke, Martin, Fragoso, Maria C., Stratakis, Constantine A., Pasmant, Eric, Libé, Rossella, Assié, Guillaume, Ragazzon, Bruno, and Bertherat, Jérôme

Abstract

This study aimed to investigate the genetic cause of food-dependent Cushing syndrome (FDCS) observed in patients with primary bilateral macronodular adrenal hyperplasia (PBMAH) and adrenal ectopic expression of the glucose-dependent insulinotropic polypeptide receptor. Germline ARMC5alterations have been reported in about 25% of PBMAH index cases but are absent in patients with FDCS.

Published
2022
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19. Cardiovascular complications in pituitary gigantism (results of an international study)

Author

Rostomyan Liliya, Daly Adrian, Shah Nalini, A Naves Luciana, Barlier Anne, Jaffrain-Rea Marie-Lise, Emy Philippe, Neggers Sebastian, Santamaria Beatriz Lecumberri, Holdaway Ian, Brue Thierry, Stalla Gunter, Salvatori Roberto, Bertherat Jerome Yves, Maiter Dominique, Zacharin Margaret, Lila Anurag, Filipponi Silvia, Mukhopadhyay Satinath, Ebeling Tapani, Ojaniemi Marja, McCormack Ann I, Kuismin Outi, Lecoq Anne-Lise, Sahnoun-Fathallah Mona, Jung-Sievers Caroline, Malchiodi Elena, Rozhinskaya Liudmila, Nazzari Elena, Mittal Sachin, Verrua Elisa, Sorkina Ekaterina, Dreval Alexander, Devuyst France, Bilbao Ismene, Auriemma Renata Simona, Garcia Nuria Palacios, Ilovaiskaya Irena, Pronin Vyacheslav, Colao Annamaria, Ferone Diego, Spada Anna, Petrossians Patrick, Beck-Peccoz Paolo, Stratakis Constantine A, Chanson Philippe, and Beckers Albert

Subjects
Pituitary Gigantism, business.industry, Physiology, Medicine, business, Gigantism
Published
2018

20. Loss of KDM1Ain GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study

Author

Chasseloup, Fanny, Bourdeau, Isabelle, Tabarin, Antoine, Regazzo, Daniela, Dumontet, Charles, Ladurelle, Nataly, Tosca, Lucie, Amazit, Larbi, Proust, Alexis, Scharfmann, Raphael, Mignot, Tiphaine, Fiore, Frédéric, Tsagarakis, Stylianos, Vassiliadi, Dimitra, Maiter, Dominique, Young, Jacques, Lecoq, Anne-Lise, Deméocq, Vianney, Salenave, Sylvie, Lefebvre, Hervé, Cloix, Lucie, Emy, Philippe, Dessailloud, Rachel, Vezzosi, Delphine, Scaroni, Carla, Barbot, Mattia, de Herder, Wouter, Pattou, François, Tétreault, Martine, Corbeil, Gilles, Dupeux, Margot, Lambert, Benoit, Tachdjian, Gérard, Guiochon-Mantel, Anne, Beau, Isabelle, Chanson, Philippe, Viengchareun, Say, Lacroix, André, Bouligand, Jérôme, and Kamenický, Peter

Abstract

GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome is caused by aberrant expression of the GIP receptor in adrenal lesions. The bilateral nature of this disease suggests germline genetic predisposition. We aimed to identify the genetic driver event responsible for GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome.

Published
2021
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21. La réforme du droit des sociétés par la loi du 9 décembre 2016 relative à la transparence, à la lutte contre la corruption et à la modernisation de la vie économique (« Sapin 2 »)

Author

Saintourens, Bernard, Emy, Philippe, Université de Bordeaux (UB), Institut de recherche en droit des affaires et du Patrimoine (IRDAP ), and collaboration or project value

Subjects
[SHS.DROIT]Humanities and Social Sciences/Law, Droit des sociétés, Réforme, SOCIETE EN GENERAL, ComputingMilieux_MISCELLANEOUS, Loi Sapin 2 du 9 décembre 2016
Abstract

International audience

Published
2017

23. Dispositions relatives aux relations du Haut Conseil du commissariat aux comptes avec ses homologues étrangers

Author

Emy, Philippe, Université de Bordeaux (UB), Institut de recherche en droit des affaires et du Patrimoine (IRDAP ), and collaboration or project value

Subjects
Régime, [SHS.DROIT]Humanities and Social Sciences/Law, Ordonnance du 31 juillet 2014, Décret d'application du 18 mai 2015, Réforme, SOCIETE EN GENERAL, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2015

24. Dispositions relatives aux titres obligataires au porteur

Author

Emy, Philippe, Université de Bordeaux (UB), Institut de recherche en droit des affaires et du Patrimoine (IRDAP ), and collaboration or project value

Subjects
Valeur mobilière, Régime, [SHS.DROIT]Humanities and Social Sciences/Law, Ordonnance du 31 juillet 2014, Décret d'application du 18 mai 2015, Réforme, SOCIETE EN GENERAL, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2015

25. Dispositions relatives aux contrôles conjoints du Haut Conseil du commissariat aux comptes et de ses homologues étrangers

Author

Emy, Philippe, Université de Bordeaux (UB), Institut de recherche en droit des affaires et du Patrimoine (IRDAP ), and collaboration or project value

Subjects
Régime, [SHS.DROIT]Humanities and Social Sciences/Law, Ordonnance du 31 juillet 2014, Haut Conseil du commissariat aux comptes, Réforme, SOCIETE EN GENERAL
Abstract

International audience; Précisions concernant la possibilité, pour le Haut Conseil du commissariat aux comptes, de mener des contrôles conjoints avec les agents d'une autorité de supervision d'un État tiers à l'Union européenne

Published
2014

26. Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients.

Author

UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Unité d'endocrinologie pédiatrique, Rostomyan, Liliya, Daly, Adrian F, Petrossians, Patrick, Nachev, Emil, Lila, Anurag R, Lecoq, Anne-Lise, Lecumberri, Beatriz, Trivellin, Giampaolo, Salvatori, Roberto, Moraitis, Andreas G, Holdaway, Ian, Kranenburg-van Klaveren, Dianne J, Chiara Zatelli, Maria, Palacios, Nuria, Nozieres, Cecile, Zacharin, Margaret, Ebeling, Tapani, Ojaniemi, Marja, Rozhinskaya, Liudmila, Verrua, Elisa, Jaffrain-Rea, Marie-Lise, Filipponi, Silvia, Gusakova, Daria, Pronin, Vyacheslav, Bertherat, Jerome, Belaya, Zhanna, Ilovayskaya, Irena, Sahnoun-Fathallah, Mona, Sievers, Caroline, Stalla, Gunter K, Castermans, Emilie, Caberg, Jean-Hubert, Sorkina, Ekaterina, Auriemma, Renata Simona, Mittal, Sachin, Kareva, Maria, Lysy, Philippe, Emy, Philippe, De Menis, Ernesto, Choong, Catherine S, Mantovani, Giovanna, Bours, Vincent, De Herder, Wouter, Brue, Thierry, Barlier, Anne, Neggers, Sebastian J C M M, Zacharieva, Sabina, Chanson, Philippe, Shah, Nalini Samir, Stratakis, Constantine A, Naves, Luciana A, Beckers, Albert, UCL - SSS/IREC/PEDI - Pôle de Pédiatrie, UCL - (SLuc) Unité d'endocrinologie pédiatrique, Rostomyan, Liliya, Daly, Adrian F, Petrossians, Patrick, Nachev, Emil, Lila, Anurag R, Lecoq, Anne-Lise, Lecumberri, Beatriz, Trivellin, Giampaolo, Salvatori, Roberto, Moraitis, Andreas G, Holdaway, Ian, Kranenburg-van Klaveren, Dianne J, Chiara Zatelli, Maria, Palacios, Nuria, Nozieres, Cecile, Zacharin, Margaret, Ebeling, Tapani, Ojaniemi, Marja, Rozhinskaya, Liudmila, Verrua, Elisa, Jaffrain-Rea, Marie-Lise, Filipponi, Silvia, Gusakova, Daria, Pronin, Vyacheslav, Bertherat, Jerome, Belaya, Zhanna, Ilovayskaya, Irena, Sahnoun-Fathallah, Mona, Sievers, Caroline, Stalla, Gunter K, Castermans, Emilie, Caberg, Jean-Hubert, Sorkina, Ekaterina, Auriemma, Renata Simona, Mittal, Sachin, Kareva, Maria, Lysy, Philippe, Emy, Philippe, De Menis, Ernesto, Choong, Catherine S, Mantovani, Giovanna, Bours, Vincent, De Herder, Wouter, Brue, Thierry, Barlier, Anne, Neggers, Sebastian J C M M, Zacharieva, Sabina, Chanson, Philippe, Shah, Nalini Samir, Stratakis, Constantine A, Naves, Luciana A, and Beckers, Albert

Abstract

Despite being a classical growth disorder, pituitary gigantism has not been studied previously in a standardized way. We performed a retrospective, multicenter, international study to characterize a large series of pituitary gigantism patients. We included 208 patients (163 males; 78.4%) with growth hormone excess and a current/previous abnormal growth velocity for age or final height >2 s.d. above country normal means. The median onset of rapid growth was 13 years and occurred significantly earlier in females than in males; pituitary adenomas were diagnosed earlier in females than males (15.8 vs 21.5 years respectively). Adenomas were ≥10 mm (i.e., macroadenomas) in 84%, of which extrasellar extension occurred in 77% and invasion in 54%. GH/IGF1 control was achieved in 39% during long-term follow-up. Final height was greater in younger onset patients, with larger tumors and higher GH levels. Later disease control was associated with a greater difference from mid-parental height (r=0.23, P=0.02). AIP mutations occurred in 29%; microduplication at Xq26.3 - X-linked acrogigantism (X-LAG) - occurred in two familial isolated pituitary adenoma kindreds and in ten sporadic patients. Tumor size was not different in X-LAG, AIP mutated and genetically negative patient groups. AIP-mutated and X-LAG patients were significantly younger at onset and diagnosis, but disease control was worse in genetically negative cases. Pituitary gigantism patients are characterized by male predominance and large tumors that are difficult to control. Treatment delay increases final height and symptom burden. AIP mutations and X-LAG explain many cases, but no genetic etiology is seen in >50% of cases.

Published
2015

27. Nouvelle étape de « simplification » du droit des sociétés par la loi n° 2012-387 du 22 mars 2012

Author

Saintourens, Bernard, Emy, Philippe, Université de Bordeaux (UB), Institut de recherche en droit des affaires et du Patrimoine (IRDAP ), and collaboration or project value

Subjects
[SHS.DROIT]Humanities and Social Sciences/Law, Développement durable, DROIT PENAL DES SOCIETES, Dépénalisation du droit des affaires, Information des actionnaires, SOCIETE ANONYME, Loi du 22 mars 2012, Généralités, Assemblée générale, SOCIETE EN GENERAL, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2012

28. Simplification et amélioration de la qualité du droit des sociétés après la loi n° 2011-525 du 17 mai 2011

Author

Saintourens, Bernard, Emy, Philippe, Université de Bordeaux (UB), Institut de recherche en droit des affaires et du Patrimoine (IRDAP ), and collaboration or project value

Subjects
Prévention des difficultés, [SHS.DROIT]Humanities and Social Sciences/Law, Commissaire aux comptes, Convention réglementée, Procédure d'alerte, Dirigeant social, SAUVEGARDE DES ENTREPRISES, Déclaration, SOCIETE ANONYME, Convention courante, SOCIETE EN GENERAL, Loi du 17 mai 2011, ComputingMilieux_MISCELLANEOUS
Abstract

International audience

Published
2011

29. Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients

Author

Rostomyan, Liliya, primary, Daly, Adrian F, additional, Petrossians, Patrick, additional, Nachev, Emil, additional, Lila, Anurag R, additional, Lecoq, Anne-Lise, additional, Lecumberri, Beatriz, additional, Trivellin, Giampaolo, additional, Salvatori, Roberto, additional, Moraitis, Andreas G, additional, Holdaway, Ian, additional, Kranenburg - van Klaveren, Dianne J, additional, Chiara Zatelli, Maria, additional, Palacios, Nuria, additional, Nozieres, Cecile, additional, Zacharin, Margaret, additional, Ebeling, Tapani, additional, Ojaniemi, Marja, additional, Rozhinskaya, Liudmila, additional, Verrua, Elisa, additional, Jaffrain-Rea, Marie-Lise, additional, Filipponi, Silvia, additional, Gusakova, Daria, additional, Pronin, Vyacheslav, additional, Bertherat, Jerome, additional, Belaya, Zhanna, additional, Ilovayskaya, Irena, additional, Sahnoun-Fathallah, Mona, additional, Sievers, Caroline, additional, Stalla, Gunter K, additional, Castermans, Emilie, additional, Caberg, Jean-Hubert, additional, Sorkina, Ekaterina, additional, Auriemma, Renata Simona, additional, Mittal, Sachin, additional, Kareva, Maria, additional, Lysy, Philippe A, additional, Emy, Philippe, additional, De Menis, Ernesto, additional, Choong, Catherine S, additional, Mantovani, Giovanna, additional, Bours, Vincent, additional, De Herder, Wouter, additional, Brue, Thierry, additional, Barlier, Anne, additional, Neggers, Sebastian J C M M, additional, Zacharieva, Sabina, additional, Chanson, Philippe, additional, Shah, Nalini Samir, additional, Stratakis, Constantine A, additional, Naves, Luciana A, additional, and Beckers, Albert, additional

Published
2015
Full Text
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30. A propos de l'opposabilité d'une cession de créance

Author

Emy, Philippe, Université de Bordeaux (UB), Institut de recherche en droit des affaires et du Patrimoine (IRDAP ), and collaboration or project value

Subjects
Obligation, [SHS.DROIT]Humanities and Social Sciences/Law, Opposabilité, Réforme, CONTRAT ET OBLIGATIONS, Droit des obligations, CESSION DE CREANCES, Avant-projet, Avant-projet de réforme
Abstract

International audience; Réflexions sur l'avant-projet de réforme du droit des obligations

Published
2008

31. Les deux visages de la capitalisation des intérêts

Author

Emy, Philippe, Université de Bordeaux (UB), Institut de recherche en droit des affaires et du Patrimoine (IRDAP ), and collaboration or project value

Subjects
INTERET, [SHS.DROIT]Humanities and Social Sciences/Law, Anatocisme, Capitalisation, ComputingMilieux_MISCELLANEOUS, Etude
Abstract

International audience

Published
2006

32. In Vivo and in Vitro Screening for Illegitimate Receptors in Adrenocorticotropin-Independent Macronodular Adrenal Hyperplasia Causing Cushing’s Syndrome: Identification of Two Cases of Gonadotropin/Gastric Inhibitory Polypeptide-Dependent Hypercortisolism

Author

Bertherat, Jérôme, Contesse, Vincent, Louiset, Estelle, Barrande, Gaelle, Duparc, Céline, Groussin, Lionel, Emy, Philippe, Bertagna, Xavier, Kuhn, Jean-Marc, Vaudry, Hubert, Lefebvre, Hervé, Émy, Philippe, Institut Cochin (UMR_S567 / UMR 8104), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), [Institut Cochin] Département Endocrinologie, métabolisme, diabète (EMD) (EMD), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Fédératif de Recherche Alfred Jost (IFRAJ), Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5), Université Paris Descartes - Paris 5 (UPD5), Neuroendocrinologie cellulaire et moléculaire, Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Différenciation et communication neuronale et neuroendocrine (DC2N), Centre Hospitalier Régional d'Orléans (CHRO), Asymétrie, hétérocycles, hétérochimie et bio-organique (AHHBO), Centre National de la Recherche Scientifique (CNRS)-Institut national des sciences appliquées Rouen Normandie (INSA Rouen Normandie), Institut National des Sciences Appliquées (INSA)-Normandie Université (NU)-Institut National des Sciences Appliquées (INSA)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service d'endocrinologie, diabétologie et maladies métaboliques [Rouen], CHU Rouen, Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), CHU Cochin [AP-HP], Centre Hospitalier Régional d'Orléans (CHR), and Normandie Université (NU)-Institut National des Sciences Appliquées (INSA)-Normandie Université (NU)-Institut National des Sciences Appliquées (INSA)-Université de Rouen Normandie (UNIROUEN)

Subjects
Hydrocortisone, Endocrinology, Diabetes and Metabolism, medicine.medical_treatment, Clinical Biochemistry, Biochemistry, Chorionic Gonadotropin, Gonadotropin-Releasing Hormone, Cushing syndrome, Eating, 0302 clinical medicine, Endocrinology, Adrenal Glands, Cushing Syndrome, Cells, Cultured, 0303 health sciences, Cisapride, Middle Aged, [SDV.MHEP.EM]Life Sciences [q-bio]/Human health and pathology/Endocrinology and metabolism, Immunohistochemistry, 3. Good health, Serotonin Receptor Agonists, Female, Gonadotropin, hormones, hormone substitutes, and hormone antagonists, medicine.drug, Signal Transduction, Cortisol secretion, Adult, medicine.medical_specialty, Serotonin, endocrine system, medicine.drug_class, Posture, 030209 endocrinology & metabolism, Receptors, Cell Surface, Adrenocorticotropic hormone, Gastric Inhibitory Polypeptide, Biology, In Vitro Techniques, 03 medical and health sciences, Adrenocorticotropic Hormone, Internal medicine, medicine, Humans, 030304 developmental biology, Adrenalectomy, Biochemistry (medical), medicine.disease, Angiotensin II, Arginine Vasopressin, Macronodular Adrenal Hyperplasia
Abstract

International audience; In ACTH-independent macronodular adrenal hyperplasia (AIMAH) causing Cushing's syndrome, cortisol production can be controlled by illegitimate membrane receptors. The aim of the present study was to evaluate in vivo and in vitro the sensitivity of AIMAH to various regulatory factors to detect the expression of illegitimate receptors by the tissues. Four consecutive patients with AIMAH and hypercortisolism (H1-H4) preoperatively underwent a series of pharmacological and/or physiological tests. After adrenalectomy, in vitro studies were conducted to investigate the cortisol responses of cultured cells, derived from hyperplastic tissues, to various membrane receptor ligands. The adrenal tissues of the two patients who responded in vivo to food intake (H2 and H4) were stimulated in vitro by gastric inhibitory polypeptide. GnRH and human chorionic gonadotropin, but not FSH, stimulated cortisol secretion in patients H2 and H4. In these two cases, human chorionic gonadotropin but not GnRH stimulated cortisol production from cultured adrenocortical cells. Cisapride induced a significant increase in cortisol levels in patient H1. In addition, serotonin (5-HT) was more efficient to stimulate cortisol production in H1 cells than in normal adrenocortical cells. Upright stimulation test provoked an increase in cortisol levels in patients H1, H2, and H3. H1 and H2 cells were more sensitive to the stimulatory action of angiotensin II than normal cells. Similarly, arginine vasopressin (AVP) more efficiently activated steroidogenesis in H1 cells than in normal cells. In H1 tissue, immunohistochemical studies revealed the presence of 5-HT- and AVP-like immunoreactivities within clusters of steroidogenic cells, suggesting that these two factors acted through an autocrine/paracrine mechanism to stimulate cortisol secretion. The present study provides the first demonstration of primary adrenal Cushing's syndrome dependent on both gonadotropin and gastric inhibitory polypeptide. Our data also show a hyperresponsiveness of hyperplastic adrenal tissues to 5-HT, angiotensin II, and AVP. Finally, they reveal for the first time the presence of paracrine regulatory signals in adrenal hyperplasia tissues.

Published
2005

33. Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas : an international collaborative study.

Author

UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, Daly, Adrian F, Tichomirowa, Maria A, Petrossians, Patrick, Heliövaara, Elina, Jaffrain-Rea, Marie-Lise, Barlier, Anne, Naves, Luciana A, Ebeling, Tapani, Karhu, Auli, Raappana, Antti, Cazabat, Laure, De Menis, Ernesto, Montañana, Carmen Fajardo, Raverot, Gerald, Weil, Robert J, Sane, Timo, Maiter, Dominique, Neggers, Sebastian, Yaneva, Maria, Tabarin, Antoine, Verrua, Elisa, Eloranta, Eija, Murat, Arnaud, Vierimaa, Outi, Salmela, Pasi I, Emy, Philippe, Toledo, Rodrigo A, Sabaté, Maria Isabel, Villa, Chiara, Popelier, Marc, Salvatori, Roberto, Jennings, Juliet, Longás, Angel Ferrandez, Labarta Aizpún, José Ignacio, Georgitsi, Marianthi, Paschke, Ralf, Ronchi, Cristina, Valimaki, Matti, Saloranta, Carola, De Herder, Wouter, Cozzi, Renato, Guitelman, Mirtha, Magri, Flavia, Lagonigro, Maria Stefania, Halaby, Georges, Corman, Vinciane, Hagelstein, Marie-Thérèse, Vanbellinghen, Jean-François, Barra, Gustavo Barcelos, Gimenez-Roqueplo, Anne-Paule, Cameron, Fergus J, Borson-Chazot, Françoise, Holdaway, Ian, Toledo, Sergio P A, Stalla, Günter K, Spada, Anna, Zacharieva, Sabina, Bertherat, Jerome, Brue, Thierry, Bours, Vincent, Chanson, Philippe, Aaltonen, Lauri A, Beckers, Albert, UCL - (SLuc) Service d'endocrinologie et de nutrition, UCL - SSS/IREC/EDIN - Pôle d'endocrinologie, diabète et nutrition, Daly, Adrian F, Tichomirowa, Maria A, Petrossians, Patrick, Heliövaara, Elina, Jaffrain-Rea, Marie-Lise, Barlier, Anne, Naves, Luciana A, Ebeling, Tapani, Karhu, Auli, Raappana, Antti, Cazabat, Laure, De Menis, Ernesto, Montañana, Carmen Fajardo, Raverot, Gerald, Weil, Robert J, Sane, Timo, Maiter, Dominique, Neggers, Sebastian, Yaneva, Maria, Tabarin, Antoine, Verrua, Elisa, Eloranta, Eija, Murat, Arnaud, Vierimaa, Outi, Salmela, Pasi I, Emy, Philippe, Toledo, Rodrigo A, Sabaté, Maria Isabel, Villa, Chiara, Popelier, Marc, Salvatori, Roberto, Jennings, Juliet, Longás, Angel Ferrandez, Labarta Aizpún, José Ignacio, Georgitsi, Marianthi, Paschke, Ralf, Ronchi, Cristina, Valimaki, Matti, Saloranta, Carola, De Herder, Wouter, Cozzi, Renato, Guitelman, Mirtha, Magri, Flavia, Lagonigro, Maria Stefania, Halaby, Georges, Corman, Vinciane, Hagelstein, Marie-Thérèse, Vanbellinghen, Jean-François, Barra, Gustavo Barcelos, Gimenez-Roqueplo, Anne-Paule, Cameron, Fergus J, Borson-Chazot, Françoise, Holdaway, Ian, Toledo, Sergio P A, Stalla, Günter K, Spada, Anna, Zacharieva, Sabina, Bertherat, Jerome, Brue, Thierry, Bours, Vincent, Chanson, Philippe, Aaltonen, Lauri A, and Beckers, Albert

Abstract

AIP mutations (AIPmut) give rise to a pituitary adenoma predisposition that occurs in familial isolated pituitary adenomas and less often in sporadic cases. The clinical and therapeutic features of AIPmut-associated pituitary adenomas have not been studied comprehensively.

Published
2010

34. Adrenal rest tissue in gonads of patients with classical congenital adrenal hyperplasia: Multicenter study of 45 French male patients

Author

Pierre, Peggy, primary, Despert, François, additional, Tranquart, François, additional, Coutant, Régis, additional, Tardy, Véronique, additional, Kerlan, Véronique, additional, Sonnet, Emmanuel, additional, Baron, Sabine, additional, Lorcy, Yannick, additional, Emy, Philippe, additional, Delavierre, Dominique, additional, Monceaux, Françoise, additional, Morel, Yves, additional, and Lecomte, Pierre, additional

Published
2012
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35. Clinical Characteristics and Therapeutic Responses in Patients with Germ-LineAIPMutations and Pituitary Adenomas: An International Collaborative Study

Author

Daly, Adrian F., primary, Tichomirowa, Maria A., additional, Petrossians, Patrick, additional, Heliövaara, Elina, additional, Jaffrain-Rea, Marie-Lise, additional, Barlier, Anne, additional, Naves, Luciana A., additional, Ebeling, Tapani, additional, Karhu, Auli, additional, Raappana, Antti, additional, Cazabat, Laure, additional, De Menis, Ernesto, additional, Montañana, Carmen Fajardo, additional, Raverot, Gerald, additional, Weil, Robert J., additional, Sane, Timo, additional, Maiter, Dominique, additional, Neggers, Sebastian, additional, Yaneva, Maria, additional, Tabarin, Antoine, additional, Verrua, Elisa, additional, Eloranta, Eija, additional, Murat, Arnaud, additional, Vierimaa, Outi, additional, Salmela, Pasi I., additional, Emy, Philippe, additional, Toledo, Rodrigo A., additional, Sabaté, Maria Isabel, additional, Villa, Chiara, additional, Popelier, Marc, additional, Salvatori, Roberto, additional, Jennings, Juliet, additional, Longás, Ángel Ferrandez, additional, Labarta Aizpún, José Ignacio, additional, Georgitsi, Marianthi, additional, Paschke, Ralf, additional, Ronchi, Cristina, additional, Valimaki, Matti, additional, Saloranta, Carola, additional, De Herder, Wouter, additional, Cozzi, Renato, additional, Guitelman, Mirtha, additional, Magri, Flavia, additional, Lagonigro, Maria Stefania, additional, Halaby, Georges, additional, Corman, Vinciane, additional, Hagelstein, Marie-Thérèse, additional, Vanbellinghen, Jean-François, additional, Barra, Gustavo Barcelos, additional, Gimenez-Roqueplo, Anne-Paule, additional, Cameron, Fergus J., additional, Borson-Chazot, Françoise, additional, Holdaway, Ian, additional, Toledo, Sergio P. A., additional, Stalla, Günter K., additional, Spada, Anna, additional, Zacharieva, Sabina, additional, Bertherat, Jerome, additional, Brue, Thierry, additional, Bours, Vincent, additional, Chanson, Philippe, additional, Aaltonen, Lauri A., additional, and Beckers, Albert, additional

Published
2010
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38. In vivo and in vitro screening for illegitimate receptors in adrenocorticotropin-independent macronodular adrenal hyperplasia causing Cushing's syndrome: identification of two cases of gonadotropin/gastric inhibitory polypeptide-dependent hypercortisolism.

Author

Bertherat J, Contesse V, Louiset E, Barrande G, Duparc C, Groussin L, Emy P, Bertagna X, Kuhn JM, Vaudry H, and Lefebvre H

Subjects
Adrenal Glands metabolism, Adrenal Glands pathology, Adrenocorticotropic Hormone blood, Adult, Arginine Vasopressin metabolism, Cells, Cultured, Chorionic Gonadotropin pharmacology, Cisapride administration & dosage, Cushing Syndrome diagnosis, Cushing Syndrome etiology, Eating, Female, Gonadotropin-Releasing Hormone administration & dosage, Humans, Hydrocortisone blood, Hydrocortisone metabolism, Immunohistochemistry, In Vitro Techniques, Middle Aged, Posture, Receptors, Cell Surface metabolism, Serotonin metabolism, Serotonin pharmacology, Serotonin Receptor Agonists administration & dosage, Signal Transduction, Adrenal Glands drug effects, Chorionic Gonadotropin metabolism, Cushing Syndrome metabolism, Gastric Inhibitory Polypeptide metabolism, Gonadotropin-Releasing Hormone metabolism
Abstract

In ACTH-independent macronodular adrenal hyperplasia (AIMAH) causing Cushing's syndrome, cortisol production can be controlled by illegitimate membrane receptors. The aim of the present study was to evaluate in vivo and in vitro the sensitivity of AIMAH to various regulatory factors to detect the expression of illegitimate receptors by the tissues. Four consecutive patients with AIMAH and hypercortisolism (H1-H4) preoperatively underwent a series of pharmacological and/or physiological tests. After adrenalectomy, in vitro studies were conducted to investigate the cortisol responses of cultured cells, derived from hyperplastic tissues, to various membrane receptor ligands. The adrenal tissues of the two patients who responded in vivo to food intake (H2 and H4) were stimulated in vitro by gastric inhibitory polypeptide. GnRH and human chorionic gonadotropin, but not FSH, stimulated cortisol secretion in patients H2 and H4. In these two cases, human chorionic gonadotropin but not GnRH stimulated cortisol production from cultured adrenocortical cells. Cisapride induced a significant increase in cortisol levels in patient H1. In addition, serotonin (5-HT) was more efficient to stimulate cortisol production in H1 cells than in normal adrenocortical cells. Upright stimulation test provoked an increase in cortisol levels in patients H1, H2, and H3. H1 and H2 cells were more sensitive to the stimulatory action of angiotensin II than normal cells. Similarly, arginine vasopressin (AVP) more efficiently activated steroidogenesis in H1 cells than in normal cells. In H1 tissue, immunohistochemical studies revealed the presence of 5-HT- and AVP-like immunoreactivities within clusters of steroidogenic cells, suggesting that these two factors acted through an autocrine/paracrine mechanism to stimulate cortisol secretion. The present study provides the first demonstration of primary adrenal Cushing's syndrome dependent on both gonadotropin and gastric inhibitory polypeptide. Our data also show a hyperresponsiveness of hyperplastic adrenal tissues to 5-HT, angiotensin II, and AVP. Finally, they reveal for the first time the presence of paracrine regulatory signals in adrenal hyperplasia tissues.

Published
2005
Full Text
View/download PDF

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