Jerome Bertherat

Summary

Country: France

Publications

  1. doi request reprint Identification of gene expression profiles associated with cortisol secretion in adrenocortical adenomas
    Hortense Wilmot Roussel
    Institut National de la Santé et de la Recherche Médicale Unité 1016, 75014 Paris, France
    J Clin Endocrinol Metab 98:E1109-21. 2013
  2. pmc Pancreatic ductal and acinar cell neoplasms in Carney complex: a possible new association
    Sebastien Gaujoux
    Institut National de la Santé et de la Recherche Médicale Unité 1016, France
    J Clin Endocrinol Metab 96:E1888-95. 2011
  3. doi request reprint Pathogenesis of adrenocortical cancer
    Jerome Bertherat
    Endocrinology, Metabolism and Cancer Department, INSERM U567, CNRS UMR8104, Institut Cochin, Hopital Cochin, Assistance Publique Hopitaux de Paris, INCa COMETE Centre for Adrenal Cancer, Universite Paris Descartes, Paris, France
    Best Pract Res Clin Endocrinol Metab 23:261-71. 2009
  4. ncbi request reprint [Adrenal gland disorders. Multiple but rarely specific clinical symptoms]
    Jerome Bertherat
    Centre de Référence des Maladies Rares de la Surrénale, Service des Maladies Endocriniennes et Metaboliques, Hopital Cochin, AP HP, 75679 Paris
    Rev Prat 58:946-8. 2008
  5. pmc SDHA is a tumor suppressor gene causing paraganglioma
    Nelly Burnichon
    Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Service de Genetique, 20 40 rue Leblanc, F 75015 Paris, France
    Hum Mol Genet 19:3011-20. 2010
  6. ncbi request reprint Clinical and biological features in the prognosis of adrenocortical cancer: poor outcome of cortisol-secreting tumors in a series of 202 consecutive patients
    Gwenaelle Abiven
    Service d endocrinologie, Hopital Cochin, 27, rue du Faubourg Saint Jacques, 75014, Paris, France
    J Clin Endocrinol Metab 91:2650-5. 2006
  7. doi request reprint Transcriptome analysis reveals that p53 and {beta}-catenin alterations occur in a group of aggressive adrenocortical cancers
    Bruno Ragazzon
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, INSERM, U1016, Paris, France
    Cancer Res 70:8276-81. 2010
  8. doi request reprint Identification of a CpG island methylator phenotype in adrenocortical carcinomas
    Olivia Barreau
    Institut National de la Santé et de la Recherche Médicale Unité 1016, Centre National de la Recherche Scientifique Unite Mixte de Recherche 8104, Assistance Publique Hopitaux de Paris, Hopital Cochin, 75014 Paris, France
    J Clin Endocrinol Metab 98:E174-84. 2013
  9. doi request reprint Wnt/β-catenin pathway activation in adrenocortical adenomas is frequently due to somatic CTNNB1-activating mutations, which are associated with larger and nonsecreting tumors: a study in cortisol-secreting and -nonsecreting tumors
    Stephane Bonnet
    Department of Endocrinology, Metabolism, and Cancer, Institut National de la Santé et de la Recherche Médicale Unité 1016, Paris, France
    J Clin Endocrinol Metab 96:E419-26. 2011
  10. pmc Silencing mutated β-catenin inhibits cell proliferation and stimulates apoptosis in the adrenocortical cancer cell line H295R
    Sebastien Gaujoux
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, Paris, France
    PLoS ONE 8:e55743. 2013

Detail Information

Publications84

  1. doi request reprint Identification of gene expression profiles associated with cortisol secretion in adrenocortical adenomas
    Hortense Wilmot Roussel
    Institut National de la Santé et de la Recherche Médicale Unité 1016, 75014 Paris, France
    J Clin Endocrinol Metab 98:E1109-21. 2013
    ..The cortisol secretion of adrenocortical adenomas can be either subtle or overt. The mechanisms leading to the autonomous hypersecretion of cortisol are unknown...
  2. pmc Pancreatic ductal and acinar cell neoplasms in Carney complex: a possible new association
    Sebastien Gaujoux
    Institut National de la Santé et de la Recherche Médicale Unité 1016, France
    J Clin Endocrinol Metab 96:E1888-95. 2011
    ..Carney complex (CNC) is a rare disease inherited as an autosomal dominant trait, associated with various tumors, and caused most frequently by inactivation of the PRKAR1A gene...
  3. doi request reprint Pathogenesis of adrenocortical cancer
    Jerome Bertherat
    Endocrinology, Metabolism and Cancer Department, INSERM U567, CNRS UMR8104, Institut Cochin, Hopital Cochin, Assistance Publique Hopitaux de Paris, INCa COMETE Centre for Adrenal Cancer, Universite Paris Descartes, Paris, France
    Best Pract Res Clin Endocrinol Metab 23:261-71. 2009
    ....
  4. ncbi request reprint [Adrenal gland disorders. Multiple but rarely specific clinical symptoms]
    Jerome Bertherat
    Centre de Référence des Maladies Rares de la Surrénale, Service des Maladies Endocriniennes et Metaboliques, Hopital Cochin, AP HP, 75679 Paris
    Rev Prat 58:946-8. 2008
  5. pmc SDHA is a tumor suppressor gene causing paraganglioma
    Nelly Burnichon
    Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Service de Genetique, 20 40 rue Leblanc, F 75015 Paris, France
    Hum Mol Genet 19:3011-20. 2010
    ..The SDHA gene should be added to the list of genes encoding tricarboxylic acid cycle proteins that act as tumor suppressor genes and can now be considered as a new paraganglioma/pheochromocytoma susceptibility gene...
  6. ncbi request reprint Clinical and biological features in the prognosis of adrenocortical cancer: poor outcome of cortisol-secreting tumors in a series of 202 consecutive patients
    Gwenaelle Abiven
    Service d endocrinologie, Hopital Cochin, 27, rue du Faubourg Saint Jacques, 75014, Paris, France
    J Clin Endocrinol Metab 91:2650-5. 2006
    ..Adrenocortical carcinomas (ACC) are rare tumors with a poor prognosis. Few reports concerning large and homogeneous series are available...
  7. doi request reprint Transcriptome analysis reveals that p53 and {beta}-catenin alterations occur in a group of aggressive adrenocortical cancers
    Bruno Ragazzon
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, INSERM, U1016, Paris, France
    Cancer Res 70:8276-81. 2010
    ..This study shows the important respective roles of p53 and β-catenin in ACC development, delineating subgroups of ACC with different tumorigenesis and outcomes...
  8. doi request reprint Identification of a CpG island methylator phenotype in adrenocortical carcinomas
    Olivia Barreau
    Institut National de la Santé et de la Recherche Médicale Unité 1016, Centre National de la Recherche Scientifique Unite Mixte de Recherche 8104, Assistance Publique Hopitaux de Paris, Hopital Cochin, 75014 Paris, France
    J Clin Endocrinol Metab 98:E174-84. 2013
    ..Our aim was to characterize the methylation in adrenocortical carcinomas at a whole-genome scale and to assess its clinical significance and its impact on gene expression...
  9. doi request reprint Wnt/β-catenin pathway activation in adrenocortical adenomas is frequently due to somatic CTNNB1-activating mutations, which are associated with larger and nonsecreting tumors: a study in cortisol-secreting and -nonsecreting tumors
    Stephane Bonnet
    Department of Endocrinology, Metabolism, and Cancer, Institut National de la Santé et de la Recherche Médicale Unité 1016, Paris, France
    J Clin Endocrinol Metab 96:E419-26. 2011
    ....
  10. pmc Silencing mutated β-catenin inhibits cell proliferation and stimulates apoptosis in the adrenocortical cancer cell line H295R
    Sebastien Gaujoux
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, Paris, France
    PLoS ONE 8:e55743. 2013
    ..In fact, activation of the Wnt/β-catenin signaling pathway seems to play a major role in ACC aggressiveness, and might, thus, represent a promising therapeutic target...
  11. pmc Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors
    Delphine Vezzosi
    Service d endocrinologie, Hopital Cochin 27, rue du Faubourg Saint Jacques, 75014 Paris, France
    J Clin Endocrinol Metab 97:E2063-9. 2012
    ..Phosphodiesterases (PDEs) are key regulatory enzymes of intracellular cAMP levels. PDE11A function has been linked to predisposition to adrenocortical tumors...
  12. doi request reprint Somatic NF1 inactivation is a frequent event in sporadic pheochromocytoma
    Nelly Burnichon
    INSERM, UMR970, Paris Cardiovascular Research Center, Paris, France
    Hum Mol Genet 21:5397-405. 2012
    ..These new findings suggest that NF1 loss of function is a frequent event in the tumorigenesis of sporadic pheochromocytoma and strengthen the new concept of molecular-based targeted therapy for pheochromocytoma or paraganglioma...
  13. doi request reprint Pregnancy does not accelerate corticotroph tumor progression in Nelson's syndrome
    Francois R Jornayvaz
    Department of Endocrinology, Hopital Cochin, Assistance Publique Hopitaux de Paris, 75014 Paris, France
    J Clin Endocrinol Metab 96:E658-62. 2011
    ..Little is known about the impact of pregnancy on corticotroph tumor progression after bilateral adrenalectomy...
  14. doi request reprint Rationale for anti-angiogenic therapy in pheochromocytoma and paraganglioma
    Judith Favier
    INSERM, UMR970, Paris Cardiovascular Research Center, Paris, France
    Endocr Pathol 23:34-42. 2012
    ..Our results suggest that there is a strong rationale for anti-VEGF-based therapeutic strategies in malignant pheochromocytomas and paragangliomas, in particular in those associated with mutations in the SDHB gene...
  15. doi request reprint Aberrant cortisol regulations in bilateral macronodular adrenal hyperplasia: a frequent finding in a prospective study of 32 patients with overt or subclinical Cushing's syndrome
    Rossella Libe
    Department of Endocrinology, Metabolism and Cancer, Institut National de la Santé et de la Recherche Médicale Unité 567, Centre National de la Recherche Scientifique Unite Mixte de Recherche 8104, Institut Cochin, 75014 Paris, France
    Eur J Endocrinol 163:129-38. 2010
    ..ACTH-independent macronodular adrenal hyperplasia (AIMAH) is a rare and heterogeneous condition characterized by abnormal steroid production. Cortisol secretion can be regulated by aberrant hormone receptors...
  16. doi request reprint Inactivation of the APC gene is constant in adrenocortical tumors from patients with familial adenomatous polyposis but not frequent in sporadic adrenocortical cancers
    Sebastien Gaujoux
    Institut Cochin, Université Paris Descartes Faculté de Médecine, CNRS UMR 8104, Paris, France
    Clin Cancer Res 16:5133-41. 2010
    ..Both APC and WTX are involved in Wnt/β-catenin pathway regulation and may play a role in ACT tumorigenesis. The aim of this study was to report if APC and WTX may be associated with FAP-associated and sporadic ACT...
  17. ncbi request reprint PRKAR1A mutations in primary pigmented nodular adrenocortical disease
    Laure Cazabat
    INSERM U567, Paris, France
    Pituitary 9:211-9. 2006
    ..Interestingly, both PRKAR1A and PDE11A gene products control the cAMP signaling pathway, which can be altered at various levels in endocrine tumors...
  18. doi request reprint Mass-array screening of frequent mutations in cancers reveals RB1 alterations in aggressive adrenocortical carcinomas
    Bruno Ragazzon
    INSERM, U1016, Institut Cochin, Paris, France
    Eur J Endocrinol 170:385-91. 2014
    ..For the remaining aggressive ACCs and for the group with a better prognosis, molecular alterations are unknown...
  19. ncbi request reprint The ectopic expression of the gastric inhibitory polypeptide receptor is frequent in adrenocorticotropin-independent bilateral macronodular adrenal hyperplasia, but rare in unilateral tumors
    Lionel Groussin
    Service des Maladies Endocriniennes et Metaboliques, Centre National de la Recherche Scientifique, UPR1524, CHU Cochin, 75014 Paris, France
    J Clin Endocrinol Metab 87:1980-5. 2002
    ..This study highlighted the major role of cAMP alterations secondary to GIP-R ectopic expression in the pathophysiology of AIMAH and in some rare cases of well differentiated benign adrenocortical tumors...
  20. ncbi request reprint Transcription factor 3',5'-cyclic adenosine 5'-monophosphate-responsive element-binding protein (CREB) is decreased during human adrenal cortex tumorigenesis and fetal development
    Dan Rosenberg
    Department of Endocrinology, Institut Cochin, Institut National de la Santé et de la Recherche Médicale U576, René Descartes Paris V University, 75014 Paris, France
    J Clin Endocrinol Metab 88:3958-65. 2003
    ..These findings highlight the similarities between the normal human fetal adrenal gland and adrenal cancers previously observed in terms of parallelism in IGF-II production...
  21. ncbi request reprint Gene expression profiling reveals a new classification of adrenocortical tumors and identifies molecular predictors of malignancy and survival
    Aurelien de Reynies
    Service des Maladies Endocriniennes et Metaboliques, Hopital Cochin, 27, rue du Faubourg Saint Jacques, 75014, Paris, France
    J Clin Oncol 27:1108-15. 2009
    ..Adrenocortical tumors, especially cancers, remain challenging both for their diagnosis and prognosis assessment. The aim of this article is to identify molecular predictors of malignancy and of survival...
  22. doi request reprint Wnt/beta-catenin and 3',5'-cyclic adenosine 5'-monophosphate/protein kinase A signaling pathways alterations and somatic beta-catenin gene mutations in the progression of adrenocortical tumors
    Sebastien Gaujoux
    Service des Maladies Endocriniennes et Metaboliques, Hopital Cochin, 75014 Paris, France
    J Clin Endocrinol Metab 93:4135-40. 2008
    ..PRKAR1A mutations leading to cAMP pathway dysregulation are observed in primary pigmented nodular adrenocortical diseases (PPNADs) and some sporadic ACAs...
  23. doi request reprint Systematic analysis of G protein-coupled receptor gene expression in adrenocorticotropin-independent macronodular adrenocortical hyperplasia identifies novel targets for pharmacological control of adrenal Cushing's syndrome
    Guillaume Assie
    Universite Paris Descartes, Institut National de la Santé et de la Recherche Médicale Unité 567, Assistance Publique Hopitaux de Paris, Hopital Cochin, Paris, France
    J Clin Endocrinol Metab 95:E253-62. 2010
    ..This has opened a pharmacological strategy that targets GPCRs for the treatment of Cushing's syndrome in AIMAH. However, only few drugs are available for the presently described GPCRs...
  24. pmc Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype
    Rossella Libe
    Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, Centre National de la Recherche Scientifique Unite Mixte de Recherche 8104, Paris, France
    J Clin Endocrinol Metab 96:E208-14. 2011
    ..Germline, protein-truncating mutations of phosphodiesterase type 11A (PDE11A) have been described to predispose to a variety of endocrine tumors, including adrenal and testicular tumors...
  25. doi request reprint The pathophysiology, diagnosis and prognosis of adrenocortical tumors revisited by transcriptome analyses
    Guillaume Assie
    Department of Endocrinology, Metabolism and Cancer, Institut Cochin, INSERM U567, University Paris Descartes, CNRS UMR8104, Paris, France
    Trends Endocrinol Metab 21:325-34. 2010
    ....
  26. ncbi request reprint Adrenal pathophysiology: lessons from the Carney complex
    Lionel Groussin
    INSERM U 567, CNRS UMR 8104, Universite Rene Descartes Paris V, Institut Cochin, Paris, France
    Horm Res 64:132-9. 2005
    ..This review will summarize the recent findings on CNC from the perspective of the pathophysiology of adrenal Cushing's syndrome and PPNAD...
  27. doi request reprint Efficiency and tolerance of mitotane in Cushing's disease in 76 patients from a single center
    Camille Baudry
    Department of Endocrinology, Reference Center for Rare Adrenal Diseases, Assistance Publique Hopitaux de Paris, Cochin Hospital, 27 rue du Faubourg Saint Jacques, 75014 Paris, France
    Eur J Endocrinol 167:473-81. 2012
    ..Alternatives to transsphenoidal pituitary surgery may be required in Cushing's disease (CD) as a first- or second-line treatment. Mitotane is a potent anti-cortisolic drug but has been rarely investigated in the treatment of CD...
  28. doi request reprint Clinical and pathophysiological implications of chromosomal alterations in adrenocortical tumors: an integrated genomic approach
    Olivia Barreau
    Institut National de la Santé et de la Recherche Médicale Unité 1016, Institut Cochin, 75014 Paris, France
    J Clin Endocrinol Metab 97:E301-11. 2012
    ..The aim was to evaluate the diagnostic and prognostic value of chromosomal alterations in ACT and to identify genes associated with benign and malignant tumorigenesis...
  29. pmc Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes
    Jerome Bertherat
    Institut National de la Santé et de la Recherche Médicale Unit 567, Centre National de la Recherche Scientifique Unite Mixte de Recherche 8104, Institut Cochin, Endocrinology, Metabolism and Cancer Department, Paris 75014, France
    J Clin Endocrinol Metab 94:2085-91. 2009
    ..Delineation of a genotype-phenotype correlation for CNC patients is essential for understanding PRKAR1A function and providing counseling and preventive care...
  30. doi request reprint Adrenocortical carcinoma and pregnancy: clinical and biological features and prognosis
    Gwenaëlle Abiven-Lepage
    Department of Endocrinology, Hopital Cochin, Assistance Publique Hopitaux de Paris, Paris, France
    Eur J Endocrinol 163:793-800. 2010
    ..We wished to evaluate the characteristics and prognosis of ACC diagnosed in patients during pregnancy or in the postpartum period, comparing them with those for ACC diagnosed in nonpregnant women...
  31. doi request reprint Inactivation of the Carney complex gene 1 (protein kinase A regulatory subunit 1A) inhibits SMAD3 expression and TGF beta-stimulated apoptosis in adrenocortical cells
    Bruno Ragazzon
    Institut Cochin, Universite Paris Descartes, Centre National de la Recherche Scientifique UMR 8104, Paris, France
    Cancer Res 69:7278-84. 2009
    ..This cross-talk between the PKA and the TGFbeta signaling pathways reveals a new mechanism of endocrine tumorigenesis...
  32. doi request reprint TMEM127 screening in a large cohort of patients with pheochromocytoma and/or paraganglioma
    Nassera Abermil
    Département de génétique, Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, 75015 Paris, France
    J Clin Endocrinol Metab 97:E805-9. 2012
    ..TMEM127 is a novel pheochromocytoma (PCC) susceptibility gene...
  33. doi request reprint [Corticotroph adenoma]
    Laurence Guignat
    Centre de Référence des Maladies Rares de la Surrénale, Service des Maladies Endocriniennes et Metaboliques, Hopital Cochin, F 75014 Paris, France
    Presse Med 38:125-32. 2009
    ....
  34. doi request reprint A rare cause of hypertestosteronemia in a 68-year-old patient: a Leydig cell tumor due to a somatic GNAS (guanine nucleotide-binding protein, alpha-stimulating activity polypeptide 1)-activating mutation
    Rossella Libe
    Institut National de la Santé et de la Recherche Médicale INSERM Unité 1016, Centre National de la Recherche Scientifique Unite Mixte de Recherche 8104, Department of Endocrinology, Metabolism and Cancer, Institut Cochin, Paris, France
    J Androl 33:578-84. 2012
    ..This case provides evidence that somatic activating gsp mutation in Leydig cells may result in tumor development, leading to overexpression of the inhibin alpha subunit and hyperactivity of the testosterone biosynthetic pathway...
  35. ncbi request reprint Molecular and functional analysis of PRKAR1A and its locus (17q22-24) in sporadic adrenocortical tumors: 17q losses, somatic mutations, and protein kinase A expression and activity
    Jerome Bertherat
    Department of Endocrinology, Institut Cochin, Institut National de la Sante et de la Recherche Medicale U567, CNRS UMR8104, Universite Paris V, Hopital Cochin, Paris 75014, France
    Cancer Res 63:5308-19. 2003
    ....
  36. doi request reprint Management of Cushing's syndrome due to ectopic adrenocorticotropin secretion with 1,ortho-1, para'-dichloro-diphenyl-dichloro-ethane: findings in 23 patients from a single center
    Bruno Donadille
    Department of Endocrinology, Cochin Hospital, 27 rue du Faubourg Saint Jacques, 75014 Paris, France
    J Clin Endocrinol Metab 95:537-44. 2010
    ..Conclusion: With close monitoring, O,p'DDD could be a potent medical treatment for long-term control and management of EAS...
  37. doi request reprint 8Cl-cAMP modifies the balance between PKAR1 and PKAR2 and modulates the cell cycle, growth and apoptosis in human adrenocortical H295R cells
    Zhor Bouizar
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104 INSERM, U567 Service d Endocrinologie, Groupe Hospitalier Cochin St Vincent de Paul, 27 rue du Fg Saint Jacques, 75014 Paris, France
    J Mol Endocrinol 44:331-47. 2010
    ..Activation of PKA R2B and dysregulation of the R1A/R2B balance regulate cell cycle progression and apoptosis in adrenocortical cells by modulating cyclin production and cyclin-dependent kinase activities...
  38. doi request reprint Carney complex
    Stéphanie Espiard
    Inserm U1016, CNRS UMR 8104, Institut Cochin, Paris, France
    Front Horm Res 41:50-62. 2013
    ..In vitro and in vivo studies help to understand how R1A inactivation leads to tumorigenesis. PRKAR1A appears to be a relatively weak tumorigenic signal which can cooperate with other signaling pathways and tumor suppressors...
  39. ncbi request reprint Cyclin E correlates with malignancy and adverse prognosis in adrenocortical tumors
    Frederique Tissier
    Service d Anatomie Pathologique, Hopital Cochin, AP HP, 75014 Paris, France
    Eur J Endocrinol 150:809-17. 2004
    ..In many cases, the prognosis of an adrenocortical tumor cannot be determined from pathologic findings alone. We investigated cyclin E levels as a potential marker...
  40. ncbi request reprint cAMP pathway alterations from the cell surface to the nucleus in adrenocortical tumors
    Dan Rosenberg
    Departement d Endocrinologie, INSERM U 567, CNRS UMR 8104, IFR 116, Institut Cochin, 24 rue du Fg St Jacques, 75014, Paris, France
    Endocr Res 28:765-75. 2002
    ..In conclusion, various alterations leading to activation or inactivation of key components of the cAMP signaling pathway can be observed in adrenocortical tumorigenesis...
  41. ncbi request reprint Clinical, hormonal and magnetic resonance imaging (MRI) predictors of transsphenoidal surgery outcome in acromegaly
    Aline Bourdelot
    Endocrinology Department, Hopital Cochin, 75014, Paris, France
    Eur J Endocrinol 150:763-71. 2004
    ..Progress in the treatment of acromegaly with drugs is making it necessary to improve the prediction of the outcome of transsphenoidal surgery...
  42. doi request reprint Differential expression of parathyroid hormone-related protein in adrenocortical tumors: autocrine/paracrine effects on the growth and signaling pathways in H295R cells
    Marthe Rizk-Rabin
    Institut Cochin, Universite Paris Descartes, CNRS UMR 8104, INSERM, U567, Paris, France
    Cancer Epidemiol Biomarkers Prev 17:2275-85. 2008
    ..The active synthesis of PTHrP is linked to poor prognosis in ACC, in which it may act as an autocrine/paracrine factor in tumor growth and malignancy...
  43. doi request reprint Cushing's disease
    Xavier Bertagna
    Service des Maladies Endocriniennes et Metaboliques, Centre de Référence des Maladies Rares de la Surrénale, Hopital Cochin, 27, rue du Fg St Jacques, 75014 Paris, France
    Best Pract Res Clin Endocrinol Metab 23:607-23. 2009
    ..There is at present no recognised efficient medical treatment towards the corticotroph adenoma -still an orphan disease...
  44. ncbi request reprint Corticotroph tumor progression after adrenalectomy in Cushing's Disease: A reappraisal of Nelson's Syndrome
    Guillaume Assie
    Department of Endocrinology, Cochin Hospital, Faculté René Descartes, 27, rue du Fg St Jacques, 75014 Paris, France
    J Clin Endocrinol Metab 92:172-9. 2007
    ..However, it may lead to Nelson's syndrome, originally defined by the association of a pituitary macroadenoma and high plasma ACTH concentrations, a much feared complication...
  45. ncbi request reprint Midnight salivary cortisol determination for assessing the outcome of transsphenoidal surgery in Cushing's disease
    Carmen A Carrasco
    Service des Maladies Endocriniennes et Metaboliques, Hopital Cochin, 27 rue du Faubourg Saint Jacques, 75014 Paris, France
    J Clin Endocrinol Metab 93:4728-34. 2008
    ..Midnight salivary cortisol (MSC) is now recognized as a reliable index for Cushing's syndrome diagnosis but has to be validated for the follow-up of treated patients...
  46. ncbi request reprint Integrated genomic characterization of adrenocortical carcinoma
    Guillaume Assie
    1 INSERM U1016, Institut Cochin, Paris, France 2 CNRS UMR 8104, Paris, France 3 Université Paris Descartes, Sorbonne Paris Cité, Paris, France 4 Center for Rare Adrenal Diseases, Department of Endocrinology, Assistance Publique Hopitaux de Paris, Hopital Cochin, Paris, France 5
    Nat Genet 46:607-12. 2014
    ..Thus, aggressive and indolent ACCs correspond to two distinct molecular entities driven by different oncogenic alterations...
  47. pmc Molecular analysis of the cyclic AMP-dependent protein kinase A (PKA) regulatory subunit 1A (PRKAR1A) gene in patients with Carney complex and primary pigmented nodular adrenocortical disease (PPNAD) reveals novel mutations and clues for pathophysiology:
    Lionel Groussin
    Departments of Endocrinology, Institut Cochin, INSERM U576, CNRS UMR 8104 IFR116, René Descartes Paris V University, France
    Am J Hum Genet 71:1433-42. 2002
    ....
  48. doi request reprint Sequential hormonal changes in 21 patients with recurrent Cushing's disease after successful pituitary surgery
    Roula Bou Khalil
    Centre de Référence des Maladies Rares de la Surrénale, Service des Maladies Endocriniennes et Metaboliques, Hopital Cochin, 27, rue du Faubourg St Jacques, 75014 Paris, France
    Eur J Endocrinol 165:729-37. 2011
    ..To describe the sequence of hormonal changes during recurrence of Cushing's disease (CD) after successful transsphenoidal surgery (TSS)...
  49. doi request reprint MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma
    Nelly Burnichon
    Assistance Publique Hopitaux de Paris, Hopital Europeen Georges Pompidou, Paris, France
    Clin Cancer Res 18:2828-37. 2012
    ..Somatic mutations were searched for in tumors from an additional 245 patients. The frequency and type of MAX mutation was assessed overall and by clinical characteristics...
  50. doi request reprint Clinical features and treatment of pediatric somatotropinoma: case study of an aggressive tumor due to a new AIP mutation and extensive literature review
    Claire Personnier
    Paediatric Endocrinology and Gynaecology Unit, Hopital Necker Enfants Malades, Paris, France
    Horm Res Paediatr 75:392-402. 2011
    ..Pediatric somatotropinoma is uncommon but usually more aggressive than in adults, creating therapeutic challenges. No treatment guidelines are available...
  51. doi request reprint β-catenin activation is associated with specific clinical and pathologic characteristics and a poor outcome in adrenocortical carcinoma
    Sebastien Gaujoux
    Cochin Institute, Paris Descartes University, CNRS UMR 8104, Paris, France
    Clin Cancer Res 17:328-36. 2011
    ..Results were confirmed on a tissue microarray from an independent multicentric cohort of 92 ACC from Germany (German-ENSAT cohort)...
  52. ncbi request reprint Continuation of amiodarone therapy despite type II amiodarone-induced thyrotoxicosis
    Laurent Uzan
    Department of Cardiology, Cochin Hospital, Rene Descartes University, Paris, France
    Drug Saf 29:231-6. 2006
    ..We studied the consequences of continuation or cessation of amiodarone in patients with type II amiodarone-induced thyrotoxicosis...
  53. doi request reprint 18F-Fluorodeoxyglucose positron emission tomography for the diagnosis of adrenocortical tumors: a prospective study in 77 operated patients
    Lionel Groussin
    Institut National de la Santé et de la Recherche Médicale Unité 567, Centre National de la Recherche Scientifique Unite Mixte de Recherche 8104, Paris, France
    J Clin Endocrinol Metab 94:1713-22. 2009
    ..Most adrenal incidentalomas are nonfunctioning adrenocortical adenomas (ACAs). Adrenocortical carcinomas (ACCs) are rare but should be recognized at an early stage...
  54. doi request reprint Laparoscopic adrenalectomy for adrenocortical carcinoma: a medico-surgical perspective
    Sebastien Gaujoux
    Department of Digestive and Endocrine Surgery, Cochin Hospital, Assistance Publique Hopitaux de Paris, 75014 Paris, France
    Ann Endocrinol (Paris) 73:441-7. 2012
    ..The aim of this article was to review the result of LA for ACC in the view of the recent and highly controversial literature...
  55. doi request reprint Acromegaly and pregnancy: a retrospective multicenter study of 59 pregnancies in 46 women
    Philippe Caron
    Service d endocrinologie, Maladies Metaboliques, et Nutrition, Centre Hospitalier Universitaire Larrey, Toulouse, France
    J Clin Endocrinol Metab 95:4680-7. 2010
    ..Few data are available on pregnancy outcomes in women with acromegaly...
  56. ncbi request reprint Aberrant receptor-mediated Cushing's syndrome
    Xavier Bertagna
    Service des Maladies Endocriniennes et Metaboliques, Hospital Cochin, Paris, France
    Horm Res 59:99-103. 2003
    ..The level of expression of the vasopressin V1a receptor correlates with the direct (ACTH-independent) cortisol response to vasopressin...
  57. ncbi request reprint [Adrenal cortical carcinoma: advances in the pathophysiology and management of this malignancy]
    Xavier Bertagna
    Service des Maladies Endocriniennes et Metaboliques, Hopital Cochin, Paris, Faculté de Médecine Paris Descartes, Universite Paris 5
    Bull Acad Natl Med 192:87-102; discussion 102-3. 2008
    ..These markers are more valuable than classical staging and histology (Weiss score). A better understanding of the pathophysiology of these tumors is required in order to develop targeted therapies...
  58. pmc The Warburg effect is genetically determined in inherited pheochromocytomas
    Judith Favier
    INSERM, Unit 970, Paris, France
    PLoS ONE 4:e7094. 2009
    ..Our data suggest an unexpected association between pseudohypoxia and loss of p53, which leads to a distinct Warburg effect in VHL-related pheochromocytomas...
  59. doi request reprint Heterogeneity of skin manifestations in patients with Carney complex
    Christine Mateus
    Department of Dermatology, Pavillon Tarnier, Hopital Cochin, APHP and Faculté de Médecine Paris V, Universite Rene Descartes, Paris, France
    J Am Acad Dermatol 59:801-10. 2008
    ..Carney complex is an autosomal dominant endocrine disorder associated with skin involvement...
  60. ncbi request reprint [Cushing syndrome: When to suspect and how to confirm?]
    Laurence Guignat
    Hopital Cochin, Centre de Référence des Maladies Rares de la Surrénale, Service des Maladies Endocriniennes et Metaboliques, 27, rue du Faubourg Saint Jacques, 75014 Paris, France
    Presse Med 43:366-75. 2014
    ..The positive diagnosis of Cushing's syndrome is based on two stages approach with the first tests simple and sensitive, and the second tests more specific, with investigations to determine the cause following a positive diagnosis. ..
  61. doi request reprint Sex steroids in androgen-secreting adrenocortical tumors: clinical and hormonal features in comparison with non-tumoral causes of androgen excess
    Catarina B d'Alva
    Assistance Publique Hopitaux de Paris, Hopital Cochin, Service d endocrinologie, Paris, France
    Eur J Endocrinol 159:641-7. 2008
    ..Adrenocortical tumors (ACT) account for no more than 0.2% of the causes of androgen excess (AE). Conversely, these rare tumors have a very poor prognosis. It is difficult and important to exclude this diagnosis whenever there is AE...
  62. ncbi request reprint [Adrenal insufficiency]
    Jerome Bertherat
    Service des maladies endocrinienes et métaboliques, Hopital Cochin, 75014 Paris
    Rev Prat 52:683-91. 2002
  63. ncbi request reprint 18F-fluorodeoxyglucose positron emission tomography as a diagnostic tool for malignancy of adrenocortical tumours? Preliminary results in 13 consecutive patients
    Florence Tenenbaum
    Service de Medecine Nucleaire, Hopital Cochin, Paris, France
    Eur J Endocrinol 150:789-92. 2004
    ....
  64. doi request reprint Transcriptome analysis of adrenocortical cancers: from molecular classification to the identification of new treatments
    Bruno Ragazzon
    Institut Cochin, Universite Paris Descartes, CNRS, UMR 8104, INSERM, U1016, Department of Endocrinology, Reference Center for Rare Adrenal Diseases, Assistance Publique Hopitaux de Paris, Hopital Cochin, 75014 Paris, France
    Endocr Relat Cancer 18:R15-27. 2011
    ..The potential for both ACC diagnosis and the identification of new therapeutic targets will be discussed...
  65. ncbi request reprint Mechanisms of disease: adrenocortical tumors--molecular advances and clinical perspectives
    Jerome Bertherat
    University of Paris 5, Cochin Hospital, Endocrinology Service, Paris, France
    Nat Clin Pract Endocrinol Metab 2:632-41. 2006
    ..The new findings should also help in the development of new therapeutic options...
  66. ncbi request reprint Reduced myocardial contractility assessed by tissue Doppler echocardiography is associated with increased risk during adrenal surgery of patients with pheochromocytoma: report of a preliminary study
    Christophe Meune
    Department of Cardiology, Cochin Hospital, Paris V René Descartes University, AP HP, Paris, France
    J Am Soc Echocardiogr 19:1466-70. 2006
    ..Depressed myocardial contractility, although rarely reported in pheochromocytoma, might be underestimated. It may be a determinant of perioperative risk during adrenal surgery...
  67. ncbi request reprint The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas
    Nelly Burnichon
    Département de génétique, Hopital Europeen Georges Pompidou, 20 40 rue Leblanc, Paris, France
    J Clin Endocrinol Metab 94:2817-27. 2009
    ..Germline mutations in SDHx genes cause hereditary paraganglioma...
  68. ncbi request reprint Succinate dehydrogenase B gene mutations predict survival in patients with malignant pheochromocytomas or paragangliomas
    Laurence Amar
    Hypertension Unit, Hopital Europeen Georges Pompidou, 20 rue Leblanc, 75908 Paris Cedex 15, France
    J Clin Endocrinol Metab 92:3822-8. 2007
    ..Pheochromocytomas and paragangliomas may be malignant either at presentation or during recurrence, but the clinical course of malignant tumors is unpredictable...
  69. ncbi request reprint Genetic testing in pheochromocytoma or functional paraganglioma
    Laurence Amar
    Universite Paris Descartes, Faculte de Medecine, France
    J Clin Oncol 23:8812-8. 2005
    ..To assess the yield and the clinical value of systematic screening of susceptibility genes for patients with pheochromocytoma (pheo) or functional paraganglioma (pgl)...
  70. ncbi request reprint Development of novel tools for the diagnosis and prognosis of pheochromocytoma using peptide marker immunoassay and gene expression profiling approaches
    Youssef Anouar
    INSERM U413, Laboratory of Cellular and Molecular Neuroendocrinology, European Institute for Peptide Research IFRMP23, University of Rouen, and Department of Genetics, Hopital Europeen Georges Pompidou, Paris, France
    Ann N Y Acad Sci 1073:533-40. 2006
    ..Altogether, these studies provide novel tools for the management of PHEO, and new insights for the understanding of tumorigenesis in chromaffin cells, which may offer potential therapeutic strategies...
  71. ncbi request reprint The Nelson's syndrome... revisited
    Guillaume Assie
    Universite Rene Descartes, Endocrinology, Cochin Hospital, Paris 5, France
    Pituitary 7:209-15. 2004
    ..We will discuss the consequences for the management of Cushing's disease patients after adrenalectomy, and will also draw some perspectives...
  72. ncbi request reprint Molecular genetics of adrenocortical tumours, from familial to sporadic diseases
    Rossella Libe
    INSERM U567 and CNRS UMR 8104, Institut Cochin, Paris, France
    Eur J Endocrinol 153:477-87. 2005
    ..This review summarizes recent advances in the genetics of ACTs, highlighting both improvements in our understanding of the pathophysiology and the diagnosis of these tumours...
  73. ncbi request reprint Novel FGFR1 sequence variants in Kallmann syndrome, and genetic evidence that the FGFR1c isoform is required in olfactory bulb and palate morphogenesis
    Catherine Dode
    Institut Cochin, INSERM U567, Universite Rene Descartes, Paris, France
    Hum Mutat 28:97-8. 2007
    ..Moreover, the presence of cleft palate in a patient carrying the p.E324X change shows that FGFR1c is important for palate morphogenesis too...
  74. doi request reprint Rapidly reversible myocardial edema in patients with acromegaly: assessment with ultrafast T2 mapping in a single-breath-hold MRI sequence
    Hervé Gouya
    Department of Radiology, Hopital Cochin, 27 rue du Faubourg Saint Jacques, 75679 Paris Cedex 14, France
    AJR Am J Roentgenol 190:1576-82. 2008
    ..The purpose of this study was to use a single-breath-hold T2-mapping MRI sequence to evaluate the reversibility of myocardial edema in patients treated for acromegaly...
  75. doi request reprint Mutations of the gene for the aryl hydrocarbon receptor-interacting protein in pituitary adenomas
    Laure Cazabat
    INSERM, U567, Departement d Endocrinologie, Métabolisme et Cancer, CNRSURM8104, Institut Cochin, Universite Paris V, Faculté de Médecine René Descartes, Paris, France
    Horm Res 71:132-41. 2009
    ..Genetic testing could be discussed for FIPAs and in young acromegalic patients with a sporadic presentation. Functional studies are needed to understand AIP-induced tumorigenesis...
  76. doi request reprint Pathogenesis of benign adrenocortical tumors
    Delphine Vezzosi
    Endocrinology, Metabolism and Cancer Department, Universite Paris Descartes, Paris, France
    Best Pract Res Clin Endocrinol Metab 24:893-905. 2010
    ..They also have therapeutic consequences, and should help to develop new therapeutic options...
  77. ncbi request reprint Adrenocortical cancer: pathophysiology and clinical management
    Rossella Libe
    INSERM U567, Endocrinology, Metabolism and Cancer Department, Institut Cochin, Paris, France
    Endocr Relat Cancer 14:13-28. 2007
    ..This review will summarize these advances as well as the current clinical management of ACC...
  78. ncbi request reprint [Cushing's syndrome]
    Laurence Guignat
    Centre de Référence Maladies Rares de la Surrénale, Service des Maladies Endocriniennes et Metaboliques, Hopital Cochin, AP HP 75679 Paris
    Rev Prat 58:957-65. 2008
    ..The syndrome remains a challenge to diagnose and manage. Here, we propose algorithms for the diagnosis of Cushing's syndrome and its cause, and review pathogenesis, clinical features, and treatment...
  79. doi request reprint Phosphodiesterases in endocrine physiology and disease
    Delphine Vezzosi
    Inserm U1016, CNRS UMR 8104, Institut Cochin, 75014 Paris, France
    Eur J Endocrinol 165:177-88. 2011
    ..The potential significance of this knowledge can be easily envisaged by the development of drugs targeting specific PDEs...
  80. doi request reprint The diagnosis of Cushing's syndrome: an Endocrine Society Clinical Practice Guideline: commentary from a European perspective
    Laurence Guignat
    Endocrinology Department, Reference Centre for Rare Adrenal Diseases, Cochin Hospital, Assistance Publique Hopitaux de Paris, 75014 Paris, France
    Eur J Endocrinol 163:9-13. 2010
    ....
  81. ncbi request reprint [Glucocorticoid treatments and adrenal function]
    Laurence Guignat
    Centre de Référence Maladies Rares de la Surrénale, Service des Maladies Endocriniennes et Metaboliques, Hopital Cochin, AP HP, 75679 Paris
    Rev Prat 58:966-70. 2008
    ..Before discontinuation of the treatment the full recovery of the corticotrop axis could be assayed by corticotropin stimulation test...
  82. ncbi request reprint Mutations of the PRKAR1A gene in Cushing's syndrome due to sporadic primary pigmented nodular adrenocortical disease
    Lionel Groussin
    Service des Maladies Endocriniennes et Metaboliques, Centre Hospitalier Universitaire CHU Cochin, Paris 75014, France
    J Clin Endocrinol Metab 87:4324-9. 2002
    ..Thus, genetic analysis can be of help to the clinician in the diagnosis of this difficult form of adrenal Cushing's syndrome...
  83. ncbi request reprint Adrenal incidentalomas
    Jerome Bertherat
    Endocrinology Department, Cochin Hospital and Groupe d Etudes en Physiopathologie Endocrinienne, Institut Cochin de Genetique Moleculaire, université Paris V René Descartes, Faculte Cochin, Paris, France
    Curr Opin Oncol 14:58-63. 2002
    ..However, alterations of the cyclic AMP signalling pathway have recently been observed in benign adrenocortical lesions and molecular defects associated with insulin-like growth factor-II overexpression in malignant adrenocortical tumors...
  84. ncbi request reprint A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds
    Lionel Groussin
    Institut National de la Santé et de la Recherche Médicale U 567, Centre National de la Recherche Scientifique Unite Mixte de Recherche 8104, Universite Rene Descartes, Paris 5, 75014 Paris, France
    J Clin Endocrinol Metab 91:1943-9. 2006
    ..Germline PRKAR1A-inactivating mutations have been observed in both CNC and iPPNAD, but with no apparent genotype-phenotype correlation...